Urethral cavernous hemangioma in a female patient: a rare entity

PubMed Central

Bolat, Mustafa Suat; Yüzüncü, Kubilay; Akdeniz, Ekrem; Demirdoven, Ayse Nurten

2015-01-01

Genitourinary hemangiomas are rare entities of the urinary system. We reported a female patient who suffered dyspareunia and intermitant hematuria that was proved as urethral cavernous hemangioma. Despite its benign nature, hemangiomas may recur due to incomplet excision. PMID:26985270

[Carcinosarcoma of the breast a rare entity with fatal prognosis. One case report].

PubMed

Villalón-López, José Sebastián; Souto-del Bosque, Rosalía; Alonso-Briones, Marco Vinicio; Trujillo-de Anda, Ana Patricia

2013-01-01

breast metaplastic carcinomas are a heterogeneous group of neoplasms that exhibit a poor prognosis compared with invasive ductal carcinoma. Correspond less than 1% of all malignant neoplasms of the mammary gland. They usually present as high-grade tumors with a lower rate of lymph node metastases and decreased expression of estrogen and progesterone receptors and Her2 and increased expression of Her1 and Ki-67. we report a 52 year old woman with a breast carcinosarcoma presented with a left breast tumor fungated, ulcerated, polypoid and 18 cm in major diameter with lymph node metastases at diagnosis. She received multimodal management with neoadjuvant chemotherapy, followed by mastectomy and adjuvant chemotherapy; she presented progression of the disease with lung metastases and local massive recurrence, eventually died from complications associated to the disease. metaplastic carcinomas of the breast are extremely rare entities. Due the nature of disease and presentation, the prognosis is poor in these patients. There are several histologic subtypes based on studies of hematoxylin and eosin and immunohistochemical stains. It requires multimodal therapy (surgery, radiotherapy and chemotherapy) for best results.

Pancreatic pseudopapillary tumour: A rare misdiagnosed entity.

PubMed

Affirul, C A; Qisti, F N; Zamri, Z; Azlanuddin, A; Hairol, A O; Razman, J

2014-01-01

Solid pseudo papillary pancreatic tumour is a rare entity. The atypical presentation causes a delayed or misdiagnosis of these pathology. It commonly affects the female population in the 2nd and 3rd decade of life. The presentation varies from non-specific abdominal pain to incidental findings in asymptomatic patients. It is a low-grade premalignant condition that is curable by excision of the tumour. This paper presents a 17-year-old girl with intra-abdominal mass diagnosed with solid pseudo papillary tumour that underwent Whipple's procedure. We discuss the presentations, diagnosis and pathology findings of this rare pathology. The diagnosis remains an enigma in view of the nature and location of the tumour. Resection is still the best choice remains for this condition. Copyright © 2014 The Authors. Published by Elsevier Ltd.. All rights reserved.

Lichen planus hypertrophicus of the vulva - a rare entity.

PubMed

Job, Anupa Mary; Kaimal, Sowmya

2017-09-01

Vulvovaginal lichen planus is a type of chronic inflammatory dermatosis of the vulva, usually seen as a part of widespread lichen planus. The common clinical types of vulval lichen planus include papulosquamous, erosive and pigmented types. Hypertrophic lichen planus of the vulva is a rare entity. We report a case of hypertrophic lichen planus of the vulva which clinically simulated genital warts.

Giant oral lipoma: a rare entity*

PubMed Central

Ponce, José Burgos; Ferreira, Gustavo Zanna; Santos, Paulo Sérgio da Silva; Lara, Vanessa Soares

2016-01-01

Lipomas are very common benign slow-growing soft tissue neoplasms composed of mature adipose tissue mostly diagnosed in the fifth decade of life. These tumors rarely present in the oral cavity, representing less than approximately 5% of all benign mouth tumors. They are usually less than 2cm in size and etiology remains unclear. We report a young male patient presenting with a giant lipoma in the buccal mucosa. Histopathology revealed a large area of mature fat cells consistent with conventional lipoma and an area of the mucosal lining of the lesion suggestive of morsicatio buccarum. In the present article, we emphasize the clinicopathological features and differential diagnosis of the disease. PMID:28300904

A Rare Entity: Bilateral First Rib Fractures Accompanying Bilateral Scapular Fractures.

PubMed

Gulbahar, Gultekin; Kaplan, Tevfik; Turker, Hasan Bozkurt; Gundogdu, Ahmet Gokhan; Han, Serdar

2015-01-01

First rib fractures are scarce due to their well-protected anatomic locations. Bilateral first rib fractures accompanying bilateral scapular fractures are very rare, although they may be together with scapular and clavicular fractures. According to our knowledge, no case of bilateral first rib fractures accompanying bilateral scapular fractures has been reported, so we herein discussed the diagnosis, treatment, and complications of bone fractures due to thoracic trauma in bias of this rare entity.

A Rare Entity: Bilateral First Rib Fractures Accompanying Bilateral Scapular Fractures

PubMed Central

Gulbahar, Gultekin; Kaplan, Tevfik; Turker, Hasan Bozkurt; Gundogdu, Ahmet Gokhan; Han, Serdar

2015-01-01

First rib fractures are scarce due to their well-protected anatomic locations. Bilateral first rib fractures accompanying bilateral scapular fractures are very rare, although they may be together with scapular and clavicular fractures. According to our knowledge, no case of bilateral first rib fractures accompanying bilateral scapular fractures has been reported, so we herein discussed the diagnosis, treatment, and complications of bone fractures due to thoracic trauma in bias of this rare entity. PMID:26175916

[Composite pheochromocytoma: A rare adrenal tumor].

PubMed

Robinet, Gwladys; Rioux-Leclercq, Nathalie; Manunta, Andréa; Mathieu, Romain; Tissier, Frédérique; Peyronnet, Benoit; Kammerer-Jacquet, Solène-Florence

2017-04-01

Composite pheochromocytoma is a rare tumor of the adrenal medulla composed of pheochromocytoma and neuroblastic tumor. We report the case of a composite pheochromocytoma detected in a patient with neurofibromatosis type 1. A 61-year-old male patient presented occasional sweats with palpitation and moderate high blood pressure. Urinary catecholamine level was increased. CT scan showed a heterogeneous tumor limited to the adrenal gland. Histologically, the tumor showed two components: pheochromocytoma and ganglioneuroma and was diagnosed as a composite pheochromocytoma. This tumor is particularly associated with neurofibromatosis type 1, the NF1 germline gene mutation may be involved in its physiopathology. Composite pheochromocytoma is a rare tumor whose pheochromocytoma component is suspected clinically but the final diagnosis is assessed by pathological examination. Prognosis is still difficult to establish due to the rarity of these tumors. Copyright © 2016 Elsevier Masson SAS. All rights reserved.

[A rare parotid tumor].

PubMed

Doh, Kwame; Thiam, Ibou; Takin, Romulus Carmen Adechina; Sonhaye, Khaled; Woto-Gaye, Gisèle

2018-06-04

Sebaceous lymphadenoma of the parotid (SLP) is a rare, benign tumor with similar epidemiological and macroscopic characteristics with other sebaceous differentiated tumors of the parotid (SDTP). The authors report a case of SLP in an 80-year-old woman. They then recall the distinctive histological and immunohistochemical criteria of SDTP. Mrs P. D. was received during a surgical consultation for the management of a painless right parotid swelling that has evolved for 10years, increasing slightly in volume. At admission, the mass was movable, firm with a healthy skin without facial paralysis or satellite lymphadenopathy. The surgical intervention performed removed a nodular mass measuring 7cm, encapsulated, yellowish. It was made of regular epithelial cells without atypia or mitoses organized in nests, trabeculae and massifs. This tumor also included small canalicular cystic dilatations associated with several islands of sebaceous glands. The stroma was dense lymphoid with follicles and germinal centers. The tumor cells were CK7+, P63+, MSA+ and had a Ki67<5%. The diagnosis of an SLP was retained. No additional therapy was performed. One year after surgery, the patient had no local recurrence or metastatic foci. SLP is a rare tumor with a particular histological and immunohistochemical profile. It is an epithelial tumor with sebaceous islands, a dense reactional lymphoid stroma, expression of luminal and basal epithelial markers and a low proliferation index. Copyright © 2018 Elsevier Masson SAS. All rights reserved.

Solitary plasmacytoma of the mandible - a rare entity.

PubMed

Baad, Rajendra; Kapse, Sonam C; Rathod, Nanita; Sonawane, Kishor; Thete, Sanjay Gangadhar; Kumar, M Naveen

2013-06-01

Plasma cell dyscrasias (multiple myeloma, solitary plasmocytoma of bone and extra medullary plasmocytoma) are cha¬racterized by a monoclonal neoplastic proliferation of plasma cells of which Solitary plasmocytoma of bone (SPB) is a localized form. SPB is most frequently seen in vertebrae and secondarily in long bones. Its presence in jaws is extremely rare. The malignant plasma cells express monotypic cytoplasmic immunoglobulins and plasma cell-associated antigens, with an absence of immature B-cell antigens. Here we report a unique case of plasmacytoma in the right side of mandible, a chronology for diagnosis of the lesion is also reviewed along with clinical, radiographic, histopathological and immunohistochemical evidence. How to cite this article: Baad R, Kapse S C, Rathod N, Sonawane K, Thete S G, Naveen M K. Solitary Plasmacytoma of the Mandible - A Rare Entity. J Int Oral Health 2013; 5(3):97-101.

Small bowel perforation secondary to metastatic non-small cell lung cancer. A rare entity with a dismal prognosis.

PubMed

Salemis, Nikolaos S; Nikou, Efstathios; Liatsos, Christos; Gakis, Christos; Karagkiouzis, Grigorios; Gourgiotis, Stavros

2012-09-01

The incidence of gastrointestinal metastases from lung cancer is higher than previously thought as they have been reported in 2-14% of the cases in autopsy studies. However, clinically significant metastases are rare. Small bowel perforation secondary to metastatic non-small cell lung cancer is a very rare clinical entity. The aim of this study is to describe a case of ileal perforation in a patient with intestinal metastases of a non-small cell lung cancer, along with a review of the literature. A 57-year-old male with a history of non-small cell lung cancer was referred to our emergency department with signs and symptoms of acute surgical abdomen. A computed tomography scan demonstrated dilated small bowel loops, liver deposits, and signs of perforation of an intra-abdominal hollow viscus. Emergency exploratory laparotomy revealed diffuse purulent peritonitis and a perforated ileal tumor. A segmental small bowel resection and primary anastomosis were performed. Histological and immunohistochemical findings were consistent with a metastatic non-small cell lung carcinoma. Additional evaluation revealed widespread metastatic disease. Unfortunately, despite adjuvant treatment, the patient died of progressive disease 2 months after surgery. Small bowel perforation due to metastatic non-small cell lung cancer is a very rare clinical entity. The possibility of small bowel metastases should be kept in mind in patients with lung cancer presenting with an acute abdomen. Intestinal perforation occurs in advanced stages and is usually a sign of widespread disease. Aggressive surgery can provide effective palliation and may improve short-term survival. The prognosis is however dismal.

Rare Primary Central Nervous System Tumors

PubMed Central

Kubicky, Charlotte Dai; Sahgal, Arjun; Chang, Eric L.; Lo, Simon S.

2014-01-01

There are close to 70,000 new cases of primary central nervous system tumors diagnosed annually in the United States. Meningiomas, gliomas, nerve sheath tumors and pituitary tumors account for 85% of them. There is abundant literature on these commonly occurring tumors but data from the literature on infrequently encountered tumors such as atypical teratoid/rhabdoid tumor, choroid plexus carcinoma, ganglioglioma, hemangiopericytoma, and pleomorphic xanthoastrocytoma are limited. This review provides an overview of the clinicopathologic and therapeutic aspects of these rare primary central nervous system tumors. PMID:25276324

Tumoral, quasitumoral and pseudotumoral lesions of the superficial and somatic soft tissue: new entities and new variants of old entities recorded during the last 25 years. Part XII: appendix.

PubMed

Bisceglia, M; Spagnolo, D; Galliani, C; Fisher, C; Suster, S; Kazakov, D V; Cooper, K; Michal, M

2006-08-01

In an eleven part series published in Pathologica, we have presented various tumoral, quasitumoral and pseudotumoral lesions of the superficial and somatic soft tissue (ST), which emerged as new entities or as variants of established entities during the last quarter of a century. Detailed clinicomorphological and differential diagnostic features of approximately sixty entities were chosen on the basis of their clinical significance and morphologic distinctiveness. The series included fibrous and myofibroblastic tumors (e.g. solitary fibrous tumor, high grade classic and pigmented dermatofibrosarcoma protuberans, inflammatory myofibroblastic tumor and myofibrosarcomas), fibromyxoid and fibrohistiocytic neoplasms (e.g., Evans' tumor, phosphaturic mesenchymal tumor, inflammatory myxohyaline tumor), special adipocytic/vascular/and smooth muscle lesions (e.g., chondroid lipoma, Dabska's tumor, ST hemangioblastoma, lipoleiomyosarcoma), epithelioid mesenchymal malignancies of diverse lineages (e.g., epithelioid liposarcoma, proximal-type epithelioid sarcoma, neuroendocrine extraskeletal chondromyxoid sarcoma), ST Ewing's tumor and peripheral nerve sheath tumors (perineuriomas and pigmented and rosetting tumors of the schwannoma/neurofibroma group), extranodal dendritic or histiocytic proliferative processes (follicular dendritic cell sarcoma, Rosai-Dorfman disease, Castleman's disease, and plexiform xanthomatous tumor), and tumors with myoepithelial differentiation. The section devoted to selected pseudotumoral entities considered representatives of the hamartoma group (neural fibrolipomatous hamartoma, ectopic hamartomatous thymoma, rudimentary meningocele), metabolic diseases (amyloid tumor, nephrogenic fibrosing dermopathy, tophaceous pseudogout, pseudoinfiltrative parathyromatosis), stromal tissue reactions to trauma (fibroosseous pseudotumors of digits) and infections (bacillary angiomatosis), and normal organs (glomus coccygeum). To conclude the descriptive phase

Headache associated with airplane travel: a rare entity.

PubMed

Cherian, Ajith; Mathew, Mini; Iype, Thomas; Sandeep, P; Jabeen, Afshan; Ayyappan, K

2013-01-01

Airplane travel headache is rare and has recently been described as a new form of headache associated with a specific situation. Of the 1,208 patients with primary headaches attending a tertiary care neurology hospital, two (0.16%) patients satisfied the criteria for headache related to airplane travel. Both the patients fulfilled the proposed diagnostic criteria for airplane travel headache. This unique headache had a mean duration of 24 minutes, localized to the medial supraorbital region described as having an intense jabbing or stabbing character that occurred exclusively and maximally during aircraft landing or take-off, following which pain intensity subsided . This rare headache felt on aircraft descent is probably due to the squeeze effect on the frontal sinus wall, when air trapped inside it contracts producing a negative pressure leading to mucosal edema, transudation and intense pain. Use of nasal decongestants either alone or in combination with naproxen sodium prior to ascent and descent abated the headache episodes. Awareness about this unique entity is essential to provide proper treatment and avoid patient suffering.

Epithelioid Hemangioendothelioma: A Rare Vascular Tumor

PubMed Central

Lakshmi, S Vidya; Prabhavathy, D; Jayakumar, S; Janaki, C; Tharini, G K

2012-01-01

Epithelioid hemangioendothelioma is an intermediate-grade vascular tumor arising from the vascular endothelium, which usually arises in soft tissue, and skin involvement is extremely rare. We report a case that presented with primary cutaneous tumor involving the whole limb and was present since birth. PMID:22470212

Large gangliocytic paraganglioma of the duodenum: A rare entity.

PubMed

Hernández, Alejandra Gordillo; Lanuza, Eduardo Dominguez-Adame; Matias, Auxiliadora Cano; Huertas, Rosario Perez; Rodriguez, Katherine Maria Gallardo; Perez, Purificacion Gallinato; Mompean, Fernando Oliva

2015-08-27

Gangliocytic paragangliomas are rare tumors that almost exclusively occur within the second portion of the duodenum. Although these tumors generally have a benign clinical course, they have the potential to recur or metastasize to regional lymph nodes. The case report presented here describes a 57-year-old female patient with melena, progressive asthenia, anemia, and a mass in the second-third portion of the duodenum that was treated by local excision. The patient was diagnosed with a friable bleeding tumor. The histologic analysis showed that the tumor was a 4 cm gangliocytic paraganglioma without a malignant cell pattern. In the absence of local invasion or distant metastasis, endoscopic resection represents a feasible, curative therapy. Although endoscopic polypectomy is currently considered the treatment of choice, it is not recommended if the size of the tumor is > 3 cm and/or there is active or recent bleeding. Patients diagnosed with a gangliocytic paraganglioma should be closely followed-up for possible local recurrence.

Large gangliocytic paraganglioma of the duodenum: A rare entity

PubMed Central

Hernández, Alejandra Gordillo; Lanuza, Eduardo Dominguez-Adame; Matias, Auxiliadora Cano; Huertas, Rosario Perez; Rodriguez, Katherine Maria Gallardo; Perez, Purificacion Gallinato; Mompean, Fernando Oliva

2015-01-01

Gangliocytic paragangliomas are rare tumors that almost exclusively occur within the second portion of the duodenum. Although these tumors generally have a benign clinical course, they have the potential to recur or metastasize to regional lymph nodes. The case report presented here describes a 57-year-old female patient with melena, progressive asthenia, anemia, and a mass in the second-third portion of the duodenum that was treated by local excision. The patient was diagnosed with a friable bleeding tumor. The histologic analysis showed that the tumor was a 4 cm gangliocytic paraganglioma without a malignant cell pattern. In the absence of local invasion or distant metastasis, endoscopic resection represents a feasible, curative therapy. Although endoscopic polypectomy is currently considered the treatment of choice, it is not recommended if the size of the tumor is > 3 cm and/or there is active or recent bleeding. Patients diagnosed with a gangliocytic paraganglioma should be closely followed-up for possible local recurrence. PMID:26328037

Persistent Mullerian Duct Syndrome: a rare entity with a rare presentation in need of multidisciplinary management.

PubMed

Da Aw, Lin; Zain, Murizah M; Esteves, Sandro C; Humaidan, Peter

2016-01-01

A typical male looking adolescent with a legal female gender assignment presented with haematuria. Investigations led to the diagnosis of Persistent Mullerian Duct Syndrome. The condition is indeed a rare entity that needs a multidisciplinar team management. Case hypothesis: A case of Persistent Mullerian Duct Syndrome undiagnosed at birth because karyotyping was defaulted, thus resulting in a significant impact on the legal gender assignment and psychosocial aspects. Promising future implications: The reporting of this case is important to create awareness due to its rarity coupled with the rare presentation with hematuria as a possible masquerade to menstruation. There were not only medical implications, but also psychosocial and legal connotations requiring a holistic multidisciplinary management. Copyright® by the International Brazilian Journal of Urology.

Mucinous cystadenocarcinoma of the breast: the challenge of diagnosing a rare entity.

PubMed

Koufopoulos, Nektarios; Goudeli, Christina; Syrios, John; Filopoulos, Evangelos; Khaldi, Lubna

2017-10-03

Mucinous cystadenocarcinoma is an extremely rare variant of primary breast tumor which is histologically similar to mucinous cystadenocarcinoma of the ovary and pancreas. Herein we report a case of a 63 years old woman diagnosed with diverse histological types of non-synchronous rare primary breast tumors, a medullary carcinoma of the right breast and a mucinous cystadenocarcinoma of the left breast. Macroscopically the neoplasm appeared multilocular filled with mucoid material. Under light microscopy the cystic areas were lined by columnar cells with abundant intracellular and extracellular mucin. Solid areas were composed of tall columnar cells with intracellular mucin. Moderate to marked atypia was noticed and tumor cells stained positive for cytokeratin 7 and negative for cytokeratin 20. Moreover tumor cells displayed a basal like immunophenotype expressed as followed: ER negative, PR negative, HER-2 negative, cytokeratin (CK5/6) positive and EGFR positive.

Hemangiopericytoma of thoracic spine: a rare bony tumor.

PubMed

Kumar, Raj; Vaid, Vivek Kumar; Kumar, Vimal; Kalra, Samir Kumar

2007-10-01

We report the case of a 16-year-old girl who developed hemangiopericytoma of the thoracic spine; the main clinical symptoms were of spastic paraparesis with sensory involvement and uro-fecal incontinence. She was initially put on antitubercular treatment keeping in mind the endemicity of tuberculosis in the region. When she deteriorated on conservative management, she was operated upon, and the histopathological report was suggestive of hemangiopericytoma. Additional immunocytochemistry was performed in the paraffin-embedded tumor sections. An extremely rare case of primary epidural malignant hemangiopericytoma of the thoracic spinal column is described. It is a rare tumor, which is locally aggressive, and a potentially malignant tumor. The tumor is more commonly found in the cranium, and spinal involvement is rare, and only few case reports could be retrieved from the literature. We discuss the clinical profile, management, and outcome of spinal hemangiopericytomas along with pertinent review of the literature.

Mucinous cystadenocarcinoma of the breast: the challenge of diagnosing a rare entity

PubMed Central

Koufopoulos, Nektarios; Goudeli, Christina; Syrios, John; Filopoulos, Evangelos; Khaldi, Lubna

2017-01-01

Mucinous cystadenocarcinoma is an extremely rare variant of primary breast tumor which is histologically similar to mucinous cystadenocarcinoma of the ovary and pancreas. Herein we report a case of a 63 years old woman diagnosed with diverse histological types of non-synchronous rare primary breast tumors, a medullary carcinoma of the right breast and a mucinous cystadenocarcinoma of the left breast. Macroscopically the neoplasm appeared multilocular filled with mucoid material. Under light microscopy the cystic areas were lined by columnar cells with abundant intracellular and extracellular mucin. Solid areas were composed of tall columnar cells with intracellular mucin. Moderate to marked atypia was noticed and tumor cells stained positive for cytokeratin 7 and negative for cytokeratin 20. Moreover tumor cells displayed a basal like immunophenotype expressed as followed: ER negative, PR negative, HER-2 negative, cytokeratin (CK5/6) positive and EGFR positive. PMID:29081926

Congenital Eccrine Angiomatous Hamartoma: A Rare Entity Revisited

PubMed Central

Mendiratta, Vibhu; Malik, Meenu; Agrawal, Mahima; Jain, Manjula; Gupta, Brijnandan

2018-01-01

Eccrine angiomatous hamartoma (EAH) is a rare benign malformation characterized by eccrine and vascular components. It usually presents at birth or during early infancy or childhood on lower extremities as a nodule or plaque. We report a case of asymptomatic tumoral swelling over the left leg in a 5-month-old Indian infant since birth. This was diagnosed as EAH on histopathology and confirmed on immunohistochemistry. PMID:29854641

Gastric Volvulus: A Rare Entity Case Report and Literature Review

PubMed Central

Akhtar, Aisha; Sheikh, Abdul Ahad E; Sheikh, Abu Baker; Perisetti, Abhilash

2018-01-01

Gastric volvulus is a rare entity defined as an abnormal rotation of the stomach around itself. It is a diagnosis of exclusion; the clinical index of suspicion is always low and is mostly diagnosed on imaging or on the surgery table. When it occurs, it is an emergency due to the risk of strangulation and consequent gangrene of the stomach. Mesentero-axial (MA) gastric volvuli constitute one-third of all cases. Here, we are present an interesting case of acute MA gastric volvulus diagnosed with imaging and treated subsequently. PMID:29755908

Rare tumors of the rectum. Narrative review.

PubMed

Errasti Alustiza, José; Espín Basany, Eloy; Reina Duarte, Angel

2014-11-01

Most rectal neoplasms are adenocarcinomas, but there is a small percentage of tumors which are of other histological cell lines such as neuroendocrine tumors, sarcomas, lymphomas and squamous cell carcinomas, which have special characteristics and different treatments. We have reviewed these rare tumors of the rectum from a clinical and surgical point of view. Copyright © 2013 AEC. Published by Elsevier Espana. All rights reserved.

Pleuroperitoneal Mesothelioma: A Rare Entity on 18F-FDG PET/CT

PubMed Central

Sahoo, Manas Kumar; Mukherjee, Anirban; Girish; Parida, Kumar; Agarwal, Krishan Kant; Bal, Chandrasekhar; Tripathi, Madhavi; Das, Chandan Jyoti; Shamim, Shamim Ahmed

2017-01-01

Pleuroperitoneal mesothelioma is an extremely rare entity. Only few cases are reported worldwide. We hereby represent a case of pleural mesothelioma referred for F-18-Fluorodeoxyglucose positron emission tomography/computed tomography for response evaluation. Diffuse F-18-Fluorodeoxyglucose avid peritoneal and omental thickening noted which subsequently turned out to be mesothelial involvement on peritoneal biopsy. This case demonstrates the role of F-18-Fluorodeoxyglucose positron emission tomography/computed tomography in detecting other sites of involvement in case of malignant mesothelioma. PMID:28242997

Primary cutaneous adenosquamous carcinoma of the penis: the first characterization of HPV status in this rare and diagnostically challenging entity with review of glandular carcinomas of the penis.

PubMed

Rush, P S; Shiau, J M; Hibler, B P; Longley, B J; Downs, T M; Bennett, D D

2016-12-01

Glandular and pseudoglandular tumors of the penile skin are extremely uncommon and can present diagnostic challenges. Primary adenosquamous carcinoma of the penis is an extremely rare tumor, composed of distinct areas of malignant squamous and glandular cells, making it a diagnostically challenging entity. The World Health Organization (WHO) recognizes several subtypes of squamous cell carcinoma (SCC), each with its own distinctive pathologic appearance, clinical associations and prognosis. Among these variants is the exceedingly uncommon adenosquamous carcinoma (ASC), representing 1%-2% of all SCC of the penis. Recent large studies have interrogated the presence of human papillomavirus (HPV) in malignant penile tumors and have shown specific morphologic patterns and clinical presentations to associate with HPV status. However, given the rarity of the adenosquamous variant of SCC, it has largely been excluded from these studies. The glandular components of these lesions can present a confusing appearance, particularly when a large tumor is represented on a small biopsy. Here we describe a difficult histologic presentation of this rare tumor, with the first published characterization of the HPV status of this subtype. This case represents a distinctly unusual case of metastatic HPV-positive primary cutaneous adenosquamous carcinoma of the penis. © 2016 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

Melanotic MiT family translocation neoplasms: Expanding the clinical and molecular spectrum of this unique entity of tumors.

PubMed

Saleeb, Rola M; Srigley, John R; Sweet, Joan; Doucet, Cedric; Royal, Virginie; Chen, Ying-Bei; Brimo, Fadi; Evans, Andrew

2017-11-01

MiT family translocation tumors are a group of neoplasms characterized by translocations involving MiT family transcription factors. The translocation renal cell carcinomas, TFE3 (Xp11.2) and TFEB (t6;11) are known members of this family. Melanotic Xp11 translocation renal cancer is a more recently described entity. To date only 14 cases have been described. It is characterized by a distinct set of features including a nested epithelioid morphology, melanin pigmentation, labeling for markers of melanocytic differentiation, lack of labeling for markers of renal tubular differentiation, predominance in a younger age population and association with aggressive clinical behavior. There are noted similarities between that entity and TFE3 associated PEComas. There are no cases reported of equivalent melanotic TFEB translocation renal cancer. We report 2 rare cases of melanotic translocation renal neoplasms. The first is a melanotic TFE3 translocation renal cancer with an indolent clinical course, occurring in a patient more than 3-decades older than the usual average age in which such tumors have been described. The other case is, to our knowledge, the first reported melanotic TFEB translocation cancer of the kidney. Both cases exhibit the same H&E morphology as previously reported in melanotic translocation renal cancers and label accordingly with HMB45 and Melan-A. While the TFE3 melanotic tumor lacked any evidence of renal tubular differentiation, the TFEB melanotic cancer exhibited some staining for renal tubular markers. Based on the unique features noted above, these two cases expand the clinical and molecular spectrum of the melanotic translocation renal cancers. Copyright © 2017 Elsevier GmbH. All rights reserved.

Warthin tumor: a curious entity--case reports and review of literature.

PubMed

Faur, Alexandra; Lazăr, Elena; Cornianu, Mărioara; Dema, Alis; Vidita, Camelia Gurban; Găluşcan, Atena

2009-01-01

Warthin tumor was first described in the American literature, by Aldred Warthin, in 1929, the pathologist who named this tumor papillary cystadenoma lymphomatosum, but since than it was also knew as adenolymphoma, cystadenolymphoma, and Warthin tumor. Because of its microscopically appearance and unknown origin, this tumor entity is still fascinating head and neck surgeons and pathologist. We evaluate the histopathological aspect of Warthin tumors using Hematoxylin-Eosin stain, and immunohistochemical and histological techniques. We reviewed the medical record of patients with salivary gland tumors diagnosed at County Hospital of Timisoara from 2002-2008. In six years, 22 cases with Warthin tumor were diagnosed and among them 17 men and five women, with average age 58.47. The analysis showed that 77.27% of Warthin tumors occurred in men, and the main histopathological aspect was with 50% epithelial component. The stromal component showed a prominent B-cell population by staining with CD20, and histological techniques for mucin were positive, and reticulin fibers were revealed while using Gordon-Sweets stain. The standard and the histological and immunohistochemical techniques highlighted the complex and variable microscopical appearance of Warthin tumor that the pathologist should consider when a diagnosis for this tumor is to be considered.

Rare malignant pediatric tumors registered in the German Childhood Cancer Registry 2001-2010.

PubMed

Brecht, Ines B; Bremensdorfer, Claudia; Schneider, Dominik T; Frühwald, Michael C; Offenmüller, Sonja; Mertens, Rolf; Vorwerk, Peter; Koscielniak, Ewa; Bielack, Stefan S; Benesch, Martin; Hero, Barbara; Graf, Norbert; von Schweinitz, Dietrich; Kaatsch, Peter

2014-07-01

The German Childhood Cancer Registry (GCCR) annually registers approximately 2,000 children diagnosed with a malignant disease (completeness of registration >95%). While most pediatric cancer patients are diagnosed and treated according to standardized cooperative protocols of the German Society for Pediatric Oncology and Hematology (GPOH), patients with rare tumors are at risk of not being integrated in the network including trials and reference centers. A retrospective analysis of all rare extracranial solid tumors reported to the GCCR 2001-2010 (age <18 years) was undertaken using a combination of the International Classification of Childhood Cancer (ICCC-3) and the International Classification of Diseases-Oncology (ICD-O-3). Tumors accounting for <0.3% of all malignancies were defined as rare (approx. 6 cases/year and registered malignancy). According to this definition 1,189 rare extracranial solid tumors (18.2% of all malignant extracranial solid tumors) were registered, among these 232 patients (19.5% of rare tumor cases), were not included in preexisting GPOH studies/registries. Within 10 years, the number of registered non-GPOH-trial patients with a rare tumor increased. Though most of the GCCR-registered patients with rare malignant tumors are treated within GPOH trials, there is a considerable number of patients that have been diagnosed and treated outside the structures of the GPOH. These patients should be reported to the recently founded German Pediatric Rare Tumor Registry (STEP). Active data accrual and the development of appropriate structures will allow for better registration and improvement of medical care in these patients. © 2014 Wiley Periodicals, Inc.

Giant retroperitoneal liposarcoma with mixed histological pattern: a rare presentation and literature review.

PubMed

Salemis, Nikolaos S; Tsiambas, Evangelos; Karameris, Andreas; Tsohataridis, Efstathios

2009-01-01

Retroperitoneal liposarcoma is a rare tumor that may grow to a considerable size before causing clinical symptoms. Mixed-type retroperitoneal liposarcoma is a very rare clinical entity. We herein describe a rare case of a 54-year-old female who was diagnosed with a giant retroperitoneal liposarcoma arising from the right perinephric space. Radical nephrectomy and right salpingo-oophorectomy were necessary to achieve complete tumor excision. Histological examination revealed a mixed-type liposarcoma consisting of well-differentiated and pleomorphic elements and deep invasion into the renal parenchyma, which is quite infrequent. The patient was well and disease-free 12 months after surgery. Mixed-type retroperitoneal liposarcoma is a rare tumor. Aggressive surgical resection of the tumor together with adjacent structures, if necessary, is the mainstay of treatment.

Intracranial Epidural Metastases of Adrenal Pheochromocytoma: A Rare Entity.

PubMed

Boettcher, Lillian B; Abou-Al-Shaar, Hussam; Ravindra, Vijay M; Horn, Jeffrey; Palmer, Cheryl Ann; Menacho, Sarah T

2018-06-01

Pheochromocytomas are uncommon neuroendocrine tumors of the adrenal medulla. Malignant behavior is seen in approximately 10% of these lesions, evidenced by distant metastasis to sites without chromaffin tissue. Here we report a rare case of intracranial epidural metastases of an adrenal pheochromocytoma in a 24-year-old man. The patient originally presented at age 10 years with adrenal pheochromocytoma and subsequently developed extensive metastatic bone and lung disease. He was monitored in the intervening years until recent imaging demonstrated an enlarging right parietal mass. On surgical resection of the parietal lesion, the tumor was highly vascularized and confined to the epidural space. To the best of our knowledge, this is the first reported case of metastatic epidural spread of pheochromocytoma without concomitant subdural or intraparenchymal extension. Copyright © 2018 Elsevier Inc. All rights reserved.

Role of Imaging and Cytogenetics in Evaluation of DiGeorge Syndrome - A Rare Entity in Clinical Practice.

PubMed

Ramachandran, Rajoo; Babu, Sellappan Rajamanickam; Ilanchezhian, Subramanian; Radhakrishnan, Prabhu Radhan

2015-01-01

DiGeorge syndrome is a congenital genetic disorder that affects the endocrine system, mainly the thymus and parathyroid glands. The syndrome produces different symptoms, which vary in severity and character between patients. It manifests with craniofacial dysmorphism and defects in the heart, parathyroid, and thymus. Patients can present with a palatal deformity and nasal speech. This rare entity is caused mainly due to deletion of chromosome 22q11.2. Radiographic evaluation of DiGeorge syndrome is necessary to define aberrant anatomy, evaluate central nervous system, craniofacial abnormalities, musculoskeletal system, and cardiothoracic contents. It also helps in planning surgical procedures and surgical reconstructions. We report a case of DiGeorge syndrome in a 4-month-old neonate and discuss the clinical, imaging, and cytogenetic findings that helped in the diagnosis of this rare entity.

Networking for ovarian rare tumors: a significant breakthrough improving disease management.

PubMed

Chiannilkulchai, N; Pautier, P; Genestie, C; Bats, A S; Vacher-Lavenu, M C; Devouassoux-Shisheboran, M; Treilleux, I; Floquet, A; Croce, S; Ferron, G; Mery, E; Pomel, C; Penault-Llorca, F; Lefeuvre-Plesse, C; Henno, S; Leblanc, E; Lemaire, A S; Averous, G; Kurtz, J E; Ray-Coquard, I

2017-06-01

Rare ovarian tumors represent >20% of all ovarian cancers. Given the rarity of these tumors, natural history, prognostic factors are not clearly identified. The extreme variability of patients (age, histological subtypes, stage) induces multiple and complex therapeutic strategies. Since 2011, a national network with a dedicated system for referral, up to 22 regional and three national reference centers (RC) has been supported by the French National Cancer Institute (INCa). The network aims to prospectively monitor the management of rare ovarian tumors and provide an equal access to medical expertise and innovative treatments to all French patients through a dedicated website, www.ovaire-rare.org. Over a 5-year activity, 4612 patients have been included. Patients' inclusions increased from 553 in 2011 to 1202 in 2015. Expert pathology review and patients' files discussion in dedicated multidisciplinary tumor boards increased from 166 cases in 2011 (25%) to 538 (45%) in 2015. Pathology review consistently modified the medical strategy in 5-9% every year. The rate of patients' files discussed in RC similarly increased from 294 (53%) to 789 (66%). An increasing number (357 in 5 years) of gynecologic (non-ovarian) rare tumors were also registered by physicians seeking for pathological or medical advice from expert tumor boards. Such a nation-wide organization for rare gynecological tumors has invaluable benefits, not only for patients, but also for epidemiological, clinical and biological research. © The Author 2017. Published by Oxford University Press on behalf of the European Society for Medical Oncology. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

A rare giant scalp dermatofibrosarcoma protuberans

PubMed Central

Arifin, Muhammad Z.; Yudoyono, Farid; Dahlan, Rully H.; Hernowo, Bethy S.; Sutiono, Agung B.; Faried, Ahmad

2014-01-01

Background: Giant dermatofibrosarcoma protuberans (DFSP) of the scalp is a rare case, which is an intermediate grade soft tissue neoplasm originating from the dermal layer of the skin, which usually occurs in adults. Case Description: We describe such a case in a 26-year-old male. A wide local excision of the tumor with a generous tissue margin was performed; microscopic and immunohistochemical findings established the diagnosis of recurrent DFSP. Conclusion: Our case is unique in that it is presented as a dermatofibrosarcoma protuberans of the scalp, which is an extremely rare clinical entity, and the patient remains well after 14 months with no further treatment, without any tumor recurrence. PMID:24818052

Extranasopharyngeal angiofibroma of the posterior nasal septum: a rare clinical entity.

PubMed

Atmaca, Sinan; Bayraktar, Cem; Yıldız, Levent

2013-01-01

Angiofibroma of extranasopharyngeal origin is very rare. Although it is usually originated from any mucosal structure in the head and neck region, maxilla is the most common involvement site. The nasal septum is an exceptional anatomic site of an angiofibroma. Surgery is the best treatment modality and recurrence is very rare. Nasal septal angiofibromas must be considered in the differential diagnosis of nasal vascular masses arising from the nasal septum. In this article, we report a 37-year-old male case with nasal septal angiofibroma who underwent surgical resection of the tumor. This is the 16th case in the literature.

A Rare Case of Intra-Endometrial Leiomyoma of Uterus Simulating Degenerated Submucosal Leiomyoma Accompanied by a Large Sertoli-Leydig Cell Tumor.

PubMed

Jeong, Kyungah; Lee, Sa Ra; Park, Sanghui

2016-03-01

A 50-year-old peri-menopausal woman presented with hard palpable mass on her lower abdomen and anemia from heavy menstrual bleeding. Ultrasonography showed a 13×12 cm sized hypoechoic solid mass in pelvis and a 2.5×2 cm hypoechoic cystic mass in uterine endometrium. Abdomino-pelvic computed tomography revealed a hypodense pelvic mass without enhancement, suggesting a leiomyoma of intraligamentary type or sex cord tumor of right ovary with submucosal myoma of uterus. Laparoscopy revealed a large Sertoli-Leydig cell tumor of right ovary with a very rare entity of intra-endometrial uterine leiomyoma accompanied by adenomyosis. The final diagnosis of ovarian sex-cord tumor (Sertoli-Leydig cell), stage Ia with intra-endometrial leiomyoma with adenomyosis, was made. Considering the large size of the tumor and poorly differentiated nature, 6 cycles of chemotherapy with Taxol and Carboplatin regimen were administered. There is neither evidence of major complications nor recurrence during 20 months' follow-up.

Sunitinib-induced thyrotoxicosis - a not so rare entity.

PubMed

Jazvić, Marijana; Prpić, Marin; Jukić, Tomislav; Murgić, Jure; Jakšić, Blanka; Kust, Davor; Prgomet, Angela; Bolanča, Ante; Kusić, Zvonko

2015-01-01

The tyrosine kinase inhibitor (TKI) sunitinib malate is nowadays a standard first-line treatment option for patients with metastatic clear-cell renal cell carcinoma (mRCC). The aim of this study was to evaluate the incidence and clinical course of thyrotoxicosis in our cohort of patients treated with sunitinib. Medical records of all patients treated with first-line sunitinib for mRCC at our Institution between November 2008 and March 2014 were retrospectively reviewed. Thyroid function was assessed after every 2 cycles of therapy, during the 2 weeks off period. Out of the 62 included patients, hypothyroidism has developed during therapy in 12 patients (19%) and it was preceded by thyrotoxicosis in 2 (3.2%). Sunitinib-induced thyrotoxicosis (SIT), a not so rare entity, was followed by hypothyroidism. The patterns of occurrence and possible significance of SIT, as predictive marker of better treatment response to sunitinib, need to be validated in further studies. Copyright© 2015 International Institute of Anticancer Research (Dr. John G. Delinassios), All rights reserved.

Paraneoplastic Cushing Syndrome Due To Wilm's Tumor.

PubMed

Faizan, Mahwish; Manzoor, Jaida; Saleem, Muhammad; Anwar, Saadia; Mehmood, Qaiser; Hameed, Ambreen; Ali, Agha Shabbir

2017-05-01

Paraneoplastic syndromes are rare disorders that are triggered by an altered immune system response to neoplasm. Paraneoplastic syndromes may be the first or the most prominent manifestations of cancer. Wilm's tumor is the most frequent pediatric renal malignancy and usually presents with abdominal mass. Unusual presentations like acquired von Willebrand disease, sudden death due to pulmonary embolism and Cushing syndrome have been described in the literature. Cushing syndrome, as the presenting symptom of a malignant renal tumor in children, is a very rare entity. Few case reports are available in the literature exploring the option of preoperative chemotherapy as well as upfront nephrectomy. We report a rare case of paraneoplastic Cushing syndrome due to a Wilm's tumor. Based on gradual decrease of postoperative weight, blood pressure, serum adrenocorticotropic hormone, and plasma cortisol levels, along with histological confirmation of Wilm's tumor, paraneoplastic Cushing syndrome due to Wilm's tumor was confirmed.

[Epithelioid hemangioendothelioma: an uncommon liver tumor].

PubMed

Pareja, Eugenia; Cortés, Miriam; Rayon, Miguel; Moya, Angel; Mir, Jose

2010-01-01

We report the case of a female patient who was referred to our unit because of a solid liver tumor, suggestive of metastasis. After biopsy, the patient was diagnosed with epithelioid hemangioendothelioma of the liver. Epithelioid hemangioendothelioma is a rare entity with an unpredictable, potentially fatal, clinical course and outcome. Due to its rarity, this entity should be considered when a solitary hepatic lesion is detected and should be included in the differential diagnosis with liver metastases. We highlight the infrequency of this tumor, its presentation as a solitary hepatic lesion and the indication of surgical treatment. We describe the clinical and pathological characteristics of epithelioid hemangioendothelioma of the liver and report a new case of this entity. The distinct therapeutic options are discussed. Copyright 2010 Elsevier España, S.L. All rights reserved.

Children’s Oncology Group’s 2013 Blueprint for Research: Rare Tumors

PubMed Central

Rodriguez-Galindo, Carlos; Krailo, Mark; Frazier, Lindsay; Chintagumpala, Murali; Amatruda, James; Katzenstein, Howard; Malogolowkin, Marcio; Spector, Logan; Pashankar, Farzana; Meyers, Rebecka; Tomlinson, Gail

2015-01-01

In the US, approximately 2,000 children are diagnosed with rare cancers each year, with 5-year survival ranging from <20% for children with advanced carcinomas to >95% for children with intraocular retinoblastoma or localized germ cell tumors. During the last years, 12 clinical studies have been successfully completed in children with retinoblastoma, liver tumors, germ cell tumors, and infrequent malignancies, including therapeutic, epidemiologic, and biologic studies. Current efforts are centered in the development of large international collaborations to consolidate evidence-based definitions and risk stratifications that will support international Phase 3 clinical trials in germ cell tumors, hepatoblastoma, and other rare cancers. PMID:23255219

Spinal cord herniation following cervical meningioma excision: a rare clinical entity and review of literature.

PubMed

Aiyer, Siddharth N; Shetty, Ajoy Prasad; Kanna, Rishi; Maheswaran, Anupama; Rajasekaran, S

2016-05-01

Spinal cord herniation following surgery is an extremely uncommon clinical condition with very few reports in published literature. This condition usually occurs as a spontaneous idiopathic phenomenon often in the thoracic spine or following a scenario of post traumatic spinal cord/nerve root injury. Rarely has it been reported following spinal cord tumor surgery. To document a case of cervical spinal cord herniation as a late onset complication following spinal cord tumor surgery with an atypical presentation of monoparesis. Case report. We describe the clinical presentation, operative procedure, post operative outcome and review of literature of this rare clinical condition. A 57-year-old man presented with right upper limb monoparesis due to a spinal cord herniation 6 years after a cervical intradural meningioma excision. The patients underwent surgery to reduce the herniation and duroplasty with subsequent complete resolution of symptoms. Spinal cord herniation must be considered as differential diagnosis in scenarios of spinal cord tumor excision presenting with late onset neurological deficit. These cases may present as paraparesis, Brown-sequard syndrome and rarely as in our case as monoparesis.

A Rare Cause of Prepubertal Gynecomastia: Sertoli Cell Tumor

PubMed Central

Dursun, Fatma; Su Dur, Şeyma Meliha; Şahin, Ceyhan; Kırmızıbekmez, Heves; Karabulut, Murat Hakan; Yörük, Asım

2015-01-01

Prepubertal gynecomastia due to testis tumors is a very rare condition. Nearly 5% of the patients with testicular mass present with gynecomastia. Sertoli cell tumors are sporadic in 60% of the reported cases, while the remaining is a component of multiple neoplasia syndromes such as Peutz-Jeghers syndrome and Carney complex. We present a 4-year-old boy with gynecomastia due to Sertoli cell tumor with no evidence of Peutz-Jeghers syndrome or Carney complex. PMID:26366315

Case Report: A giant but silent adrenal pheochromocytoma – a rare entity

PubMed Central

Munakomi, Sunil; Rajbanshi, Saroj; Adhikary, Prof Shailesh

2016-01-01

Herein we report a rare entity of a giant adrenal pheochromocytoma in a fifty-year-old male presenting with a vague abdominal pain. A computerised tomogram of the abdomen revealed a well-defined  left supraadrenal giant lesion with no evidence of invasion to surrounding structures.The patient underwent surgical excision without any untoward postoperative events. Histopathological study revealed a benign pheochromocytoma. This report highlights the importance of acknowledging the fact that sometimes a giant adrenal pheochromocytoma can present with paucity of clinical  signs and symptoms.Thorough investigations and a multidisciplinary team approach may lead  to a better outcome in these patients. PMID:27785358

Leiomyoadenomatoid tumor of the uterus: report of a rare entity and review of the literature.

PubMed

Sarma, Nandyala Hariharanadha; Srinivasulu, Madapuram; Suchitra, Mekala Jyothi

2014-01-01

Adenomatoid tumor occurs in the testicular spermatic cord and ejaculatory duct in males and in the fallopian tube and uterus in the females. These are usually small, benign lesions and are mostly incidental findings. Leiomyo-adenomatoid tumor (LMAT) is a variant of adenomatoid tumor, where in the smooth muscle component is predominant. Only nine cases of LMAT are reported so far in the English literature. We report one case and review the nine cases reported so far.

Dermatofibrosarcoma protuberans, a rare but locally aggressive tumor on finger: clinical and aeromedical considerations

PubMed Central

Chiang, Kwo-Tsao; Lee, Shih-Yu; Chu, Hsin

2015-01-01

Abstract Dermatofibrosarcoma protuberans (DFSP) is a rare, slow growing, locally infiltrative tumor of intermediate malignancy. It is mostly found on the trunk and head, rarely on hands. The course of evaluation and treatment of a young pilot with DFSP on left middle finger is reported. The clinical issues and aeromedical considerations of this rare tumor is discussed. PMID:27252960

The value of fine needle aspiration cytology in the clinical management of rare salivary gland tumors

PubMed Central

Mezei, Tibor; Mocan, Simona; Ormenisan, Alina; Baróti, Beáta; Iacob, Alina

2018-01-01

Abstract Salivary gland tumors are relatively rare neoplasms, mostly located in the parotid gland, and few are malignant. Preoperative evaluation of salivary gland tumors includes fine needle aspiration cytology (FNAC). Objective The purpose of this study was to determine the importance of FNAC in the evaluation of rare salivary gland neoplasms. Material and Methods Four cases of rare salivary gland tumors were included, which were preoperatively assessed by clinical investigation, computed tomography, and FNAC. Results The presented cases include myoepithelial carcinoma, oncocytic carcinoma, undifferentiated lymphoepithelial carcinoma, and marginal zone lymphoma. Conclusion FNAC is a reliable diagnostic tool for common salivary gland neoplasms; however, rare tumors often represent diagnostic challenges. Clinical relevance In such rare tumors, the role of aspiration cytology may be limited to establishing the dignity of the lesion (benign/malignant). This knowledge enables the surgeon to choose the most appropriate therapeutic procedure. A definitive diagnosis of rare tumors (either epithelial or nonepithelial) is obtained by histological examination; cytology is limited in this regard due to overlapping features. PMID:29489937

Myxedema Coma with Reversible Cardiopulmonary Failure: a Rare Entity in 21St Century.

PubMed

Dhakal, Prajwal; Pant, Manisha; Acharya, Pranab Sharma; Dahal, Sumit; Bhatt, Vijaya Raj

2015-09-01

Myxedema coma, a rare entity in 21st century in developed nations, is a decompensated phase of hypothyroidism with high mortality rates. We describe a young woman with myxedema, who developed respiratory failure, congestive heart failure and significant pericardial effusion, some of the uncommon manifestations. Decreased cardiac contractility can result in cardiomyopathy and heart failure. As illustrated by this case, myxedema can also result in significant pericardial effusion due to increased vascular permeability. Myxedema can further be complicated by alveolar hypoventilation and respiratory failure secondary to the lack of central drive as well as respiratory muscle weakness. Prompt therapy with thyroid hormone replacement, glucocorticoid therapy, aggressive supportive care and management of the precipitating event can save lives and reverse the cardiopulmonary symptoms, as in our patient. Hence, physicians should have a high index of suspicion for myxedema coma in patients with unexplained cardiopulmonary failure. Our report is, therefore, aimed at bringing awareness about the rare but fatal manifestations of myxedema coma.

Primary Adult Renal Ewing's Sarcoma: A Rare Entity

PubMed Central

Mukkunda, Ravindra; Venkitaraman, Ramachandran; Thway, Khin; Min, Toon; Fisher, Cyril; Horwich, Alan; Judson, Ian

2009-01-01

Background. Ewing's sarcoma of extraskeletal origin is uncommon and that is of primary renal origin in adults are rare. There is no consensus on the optimal management of Ewing's tumors of renal origin. Methods. A retrospective review of the clinical features, treatment, and outcome of adult patients with primary renal extra-skeletal Ewing's sarcoma who were treated at the Royal Marsden hospital from January 1993–December 2007 is reported. Results. Seven adult patients with primary renal Ewing's sarcoma were identified. All four patients with nonmetastatic disease had radical nephrectomy and received adjuvant chemotherapy +/− radiotherapy. Two developed metastatic disease while on adjuvant chemotherapy, and one patient relapsed after 55 months. The three patients with metastatic disease at presentation did not have nephrectomy and were treated with chemotherapy. All three patients had disease progression with a dismal outcome. Only one patient in the whole group is alive and disease free. The median overall survival was 62.8 months, and the median disease-free survival in patients with nonmetastatic disease after combined modality treatment was 30.3 months. Conclusion. Primary adult renal Ewing's sarcoma is an aggressive tumor with a propensity for early metastasis. Radical nephrectomy with adjuvant combination chemotherapy produced the best results but the outlook remained poor with only one patient experiencing long disease-free survival. PMID:19478963

[A rare tumor of the infratemporal fossa].

PubMed

Bourhaleb, Z; Chekrine, T; Bouamama, I; Bouchbika, Z; Benchakroun, N; Jouhadi, H; Tawfiq, N; Sahraoui, S; Benider, A

2010-06-01

Giant cell tumors of bone (GCT) are usually benign and relatively rare. They have an aggressive behavior and an unpredictable prognosis. They occur mainly in the young adult, with a preferential localization in long bones. We report a giant cell infratemporal fossa tumor. A 55-year-old female patient consulted for swelling in the right cheek. Surgical excision was incomplete because of the subtemporal tumor localization. Histological assessment proved a GCT. Forty-five grays postoperative external radiotherapy was applied to the surgical site. The patient had local control at the 12-month follow-up. GCTs are seldom observed in the facial skeleton (2%). The recommended treatment is surgery. Radiotherapy can be indicated in case of incomplete or impossible surgical excision, or when surgery would be responsible for a major functional deficit. Copyright 2010 Elsevier Masson SAS. All rights reserved.

Carotid body tumor imitator: An interesting case of Castleman's disease.

PubMed

Shakir, Hakeem J; Diletti, Sara M; Hart, Alexandra M; Meyers, Joshua E; Dumont, Travis M; Siddiqui, Adnan H

2015-01-01

There are very few reports in the literature of Castleman's disease affecting the carotid artery and a single previous report of a case of Castleman's disease of the neck originally mistaken as a carotid body tumor. We describe a rare case of Castleman's disease, manifesting with classic radiographic hallmarks of a carotid body tumor. The postoperative pathologic examination identified the resected mass as Castleman's lymphadenopathy. The management of this particular case is discussed, and the findings are highlighted. We present a unique case of a tumor initially and incorrectly diagnosed as a carotid body tumor. However, after comprehensive treatment with endovascular and surgical modalities and subsequent pathologic examination, the diagnosis of this rare entity was made.

Isolation of Rare Tumor Cells from Blood Cells with Buoyant Immuno-Microbubbles

PubMed Central

Shi, Guixin; Cui, Wenjin; Benchimol, Michael; Liu, Yu-Tsueng; Mattrey, Robert F.; Mukthavaram, Rajesh; Kesari, Santosh; Esener, Sadik C.; Simberg, Dmitri

2013-01-01

Circulating tumor cells (CTCs) are exfoliated at various stages of cancer, and could provide invaluable information for the diagnosis and prognosis of cancers. There is an urgent need for the development of cost-efficient and scalable technologies for rare CTC enrichment from blood. Here we report a novel method for isolation of rare tumor cells from excess of blood cells using gas-filled buoyant immuno-microbubbles (MBs). MBs were prepared by emulsification of perfluorocarbon gas in phospholipids and decorated with anti-epithelial cell adhesion molecule (EpCAM) antibody. EpCAM-targeted MBs efficiently (85%) and rapidly (within 15 minutes) bound to various epithelial tumor cells suspended in cell medium. EpCAM-targeted MBs efficiently (88%) isolated frequent tumor cells that were spiked at 100,000 cells/ml into plasma-depleted blood. Anti-EpCAM MBs efficiently (>77%) isolated rare mouse breast 4T1, human prostate PC-3 and pancreatic cancer BxPC-3 cells spiked into 1, 3 and 7 ml (respectively) of plasma-depleted blood. Using EpCAM targeted MBs CTCs from metastatic cancer patients were isolated, suggesting that this technique could be developed into a valuable clinical tool for isolation, enumeration and analysis of rare cells. PMID:23516425

Intracerebellar malignant nerve sheath tumor in a child: case report and review of literature.

PubMed

Joshi, Krishna Chaitanya; Chakravarthy, Hariprakash; Subramanian, Nirmala

2015-05-01

Intracerebellar malignant nerve sheath tumor (ICMNST) is an extremely rare entity, only two cases have been reported previously, and this is the first case to be reported in a child. The histogenesis, diagnosis, and management of this entity are very ambiguous, and natural history in a child is unknown. The authors report a 7-year-old girl who presented with ataxia and signs of raised intracranial pressure and discuss the challenges in diagnosis, surgical strategy, and treatment. Following gross total resection and radiation to tumor bed, the patient had unremarkable recovery and is recurrence free at 1-year follow-up. ICMNSTs are extremely rare tumors of the cerebellum. Preoperative radiological diagnosis is not possible due to its close radiological resemblance to other common posterior fossa tumors. Immunohistochemistry plays a pivotal role in clinching the diagnosis. Though the reported adult counterparts have shown dismal prognosis, the pediatric counterparts may fare better with good surgical resection followed by radiotherapy.

Primary Vaginal Melanoma, A Rare and Aggressive Entity. A Case Report and Review of the Literature

PubMed Central

KALAMPOKAS, EMMANOUIL; KALAMPOKAS, THEODOROS; DAMASKOS, CHRISTOS

2017-01-01

Malignant melanoma of the vagina is a rare, aggressive malignancy of poor prognosis. It principally affects post-menopausal women, with a mean age of 57 years, and the factors that contribute to its appearance are not well known. The first case of primary malignant vaginal melanoma was reported in 1887 and modern literature has noted about 500 cases, globally. Vaginal melanomas constitute 0.3% of all malignant melanomas and fewer than 3% of all vaginal carcinomas. To date there is no clear consensus regarding treatment. An early, accurate diagnosis and prompt investigation is essential in reaching appropriate treatment decisions. We present a clinical case of primary vaginal melanoma and review the literature briefly, presenting the current treatment plans and updates of this rare gynecological malignancy. Considerations, epidemiology, associated risk factors, response to therapy and expected outcome are also discussed. Conclusion: Primary malignant vaginal melanoma is a rare but aggressive melanoma that affects women in their 6th and 7th decade of life. The tumor appears as a dark node or spindle but can also be amelanotic. The size of the tumor is indicative of the prognostic factors. Surgery seems to be the only efficient treatment. Postoperative adjuvant therapy might help in preventing recurrence of the tumor. The survival rate is largely dependent on nodal and distant metastasis of the disease after initial tumor resection. There is a dire need to form a proper therapeutic regime to control this disease. PMID:28064232

Telangiectatic osteosarcoma of the rib: a rare entity and a potential diagnostic pitfall.

PubMed

Saguem, I; Ayadi, L; Kallel, R; Charfi, S; Bahri, I; Gouiaa, N; Sellami-Boudawara, T

2016-12-01

Osteosarcoma (OS) is a common primary malignant tumor of bones that produces osteoid matrix. Telangiectatic osteosarcoma (TOS) is a rare variant of OS. It affects the long bones especially the lower end of femur and the upper ends of tibia and humerus, a distribution similar to the conventional osteosarcoma. The rib involvement is very infrequent. We present a case of TOS of the rib that posed a diagnostic difficulty owing to its unusual location and to its resemblance to giant cell tumor and aneurysmal bone cyst. Correspondence. © Copyright Società Italiana di Anatomia Patologica e Citopatologia Diagnostica, Divisione Italiana della International Academy of Pathology.

Recurrent phyllodes tumor in the male breast in a background of gynaecomastia.

PubMed

Chougule, Abhijit; Bal, Amanjit; Rastogi, Pulkit; Das, Ashim

2015-01-01

Phyllodes tumor of the male breast is an extremely rare entity with only a few reports available in the literature. Though exact etiology for development of phyllodes tumor in the male breast is unknown, hormonal imbalance with excess of estrogen action relative to androgen appears to have significant association. This report describes recurrence of phyllodes tumor with malignant features developing in the background of gynaecomastia in a male breast.

Perivascular epithelioid cell tumor (PEComa) of the cheek.

PubMed

Ghazali, Naseem; Cascarini, Luke; Norris, Paul; Barrett, A W; Lavery, Kenneth M

2010-07-01

We present the unusual case of a perivascular epithelioid cell tumor (PEComa) occurring within the cheek of a 32-year-old woman. PEComa is a rare, recently described, family of tumors with diverse clinicopathologic expression and which express melanocytic and muscle markers. It mainly affects the abdominopelvic region and rarely occurs in somatic soft tissue or skin. To our knowledge, this is the first reported case of PEComa occurring in the facial cutaneous tissues. Other possible diagnoses considered included benign mesenchymal tumors of smooth muscle or neural origin. However, the cytomorphologic and immunohistochemical profile were most suggestive of PEComa. The tumor was completely excised, but in view of uncertainty as to how this entity would behave in an unusual location, lifelong follow up is recommended. After complete excision, there was no recurrence in 4 years. Copyright (c) 2010 Mosby, Inc. All rights reserved.

Primary Vaginal Melanoma, A Rare and Aggressive Entity. A Case Report and Review of the Literature.

PubMed

Kalampokas, Emmanouil; Kalampokas, Theodoros; Damaskos, Christos

2017-01-02

Malignant melanoma of the vagina is a rare, aggressive malignancy of poor prognosis. It principally affects post-menopausal women, with a mean age of 57 years, and the factors that contribute to its appearance are not well known. The first case of primary malignant vaginal melanoma was reported in 1887 and modern literature has noted about 500 cases, globally. Vaginal melanomas constitute 0.3% of all malignant melanomas and fewer than 3% of all vaginal carcinomas. To date there is no clear consensus regarding treatment. An early, accurate diagnosis and prompt investigation is essential in reaching appropriate treatment decisions. We present a clinical case of primary vaginal melanoma and review the literature briefly, presenting the current treatment plans and updates of this rare gynecological malignancy. Considerations, epidemiology, associated risk factors, response to therapy and expected outcome are also discussed. Primary malignant vaginal melanoma is a rare but aggressive melanoma that affects women in their 6th and 7th decade of life. The tumor appears as a dark node or spindle but can also be amelanotic. The size of the tumor is indicative of the prognostic factors. Surgery seems to be the only efficient treatment. Postoperative adjuvant therapy might help in preventing recurrence of the tumor. The survival rate is largely dependent on nodal and distant metastasis of the disease after initial tumor resection. There is a dire need to form a proper therapeutic regime to control this disease. Copyright© 2017, International Institute of Anticancer Research (Dr. George J. Delinasios), All rights reserved.

[Fertility preservation, contraception and menopause hormone therapy in women treated for rare ovarian tumors: Guidelines from the French national network dedicated to rare gynaecological cancer].

PubMed

Rousset-Jablonski, Christine; Selle, Fréderic; Adda-Herzog, Elodie; Planchamp, François; Selleret, Lise; Pomel, Christophe; Chabbert-Buffet, Nathalie; Daraï, Emile; Pautier, Patricia; Trémollières, Florence; Guyon, Frederic; Rouzier, Roman; Laurence, Valérie; Chopin, Nicolas; Faure-Conter, Cécile; Bentivegna, Enrica; Vacher-Lavenu, Marie-Cécile; Lhomme, Catherine; Floquet, Anne; Treilleux, Isabelle; Lecuru, Fabrice; Gouy, Sébastien; Kalbacher, Elsa; Genestie, Catherine; de la Motte Rouge, Thibault; Ferron, Gwenael; Devouassoux-Shisheboran, Mojgan; Kurtz, Jean-Emmanuel; Namer, Moise; Joly, Florence; Pujade-Lauraine, Eric; Grynberg, Michael; Querleu, Denis; Morice, Philippe; Gompel, Anne; Ray-Coquard, Isabelle

2018-03-01

Rare ovarian tumors include complex borderline ovarian tumors, sex-cord tumors, germ cell tumors, and rare epithelial tumors. Indications and modalities of fertility preservation, infertility management and contraindications for hormonal contraception or menopause hormone therapy are frequent issues in clinical practice. A panel of experts from the French national network dedicated to rare gynaecological cancers, and of experts in reproductive medicine and gynaecology have worked on guidelines about fertility preservation, contraception and menopause hormone therapy in women treated for ovarian rare tumors. A panel of 39 experts from different specialties contributed to the preparation of the guidelines, following the DELPHI method (formal consensus method). Statements were drafted after a systematic literature review, and then rated through two successive rounds. Thirty-five recommendations were selected, and concerned indications for fertility preservation, contraindications for ovarian stimulation (in the context of fertility preservation or for infertility management), contraceptive options (especially hormonal ones), and menopause hormone therapy for each tumor type. Overall, prudence has been recommended in the case of potentially hormone-sensitive tumors such as sex cord tumors, serous and endometrioid low-grade adenocarcinomas, as well as for high-risk serous borderline ovarian tumors. In the context of a scarce literature, a formal consensus method allowed the elaboration of guidelines, which will help clinicians in the management of these patients. Copyright © 2017 Société Française du Cancer. Published by Elsevier Masson SAS. All rights reserved.

Xp11.2 translocation tumor: a rare cause of gross hematuria.

PubMed

Asaki, Howard E; Moshero, Gianni; Stanton, Melissa L; Humphreys, Mitchell R

2014-02-01

Xp11.2 translocation tumor is a rare but aggressive form of renal cell carcinoma that predominantly occurs in children but also may be found in young adults. Because this type of cancer is diagnosed via histologic and chromosomal analysis, clinicians should consider translocation tumor in the differential diagnosis of patients with renal lesions and gross hematuria.

Collision tumors in the gastrointestinal tract: a rare case series

PubMed Central

Bhattacharya, Aruna; Saha, Rama; Biswas, Jayanta; Biswas, Jhuma; Ghosh, Biswajit

2012-01-01

A collision tumor is one where histology shows the presence of two distinct primaries involving the same organ without intermixture of individual cell types, ie, a side by side pattern. Here we present three rare cases of collision tumors involving the stomach and transverse colon. There were two cases of collision tumors involving the stomach, one of which was a combination of adenocarcinoma and low-grade non-Hodgkin’s (mucosa-associated lymphoid tissue) lymphoma, and the other showed the presence of non-Hodgkin’s lymphoma involving the entire stomach wall along with adenocarcinoma infiltrating the muscle layer. The third case comprised a mucinous adenocarcinoma and carcinoid tumor in the large gut. PMID:23754928

[Pott's puffy tumor: a rare complication of frontal sinusitis].

PubMed

Aínsa Laguna, D; Pons Morales, S; Muñoz Tormo-Figueres, A; Vega Senra, M I; Otero Reigada, M C

2014-05-01

Pott's puffy tumor is a rare complication of frontal sinusitis characterized by swelling and edema in the brow due to a subperiosteal abscess associated with frontal osteomyelitis. Added complications are cellulitis by extension to the orbit and intracranial infection by posterior extension, with high risk of meningitis, intracranial abscess, and venous sinus thrombosis. Early diagnosis and aggressive medical or surgical treatment are essential for optimal recovery of affected patients. In the antibiotic age it is extremely rare, with very few cases described in the recent literature. A case is presented of a Pott inflammatory tumor in a 7 year-old boy, as a complication of acute pansinusitis who presented with front preseptal swelling and intracranial involvement with thrombosis of ophthalmic and superior orbital veins and frontal epidural abscess extending to the subarachnoid space. Copyright © 2013 Asociación Española de Pediatría. Published by Elsevier Espana. All rights reserved.

Adenomatous tumors of the middle ear and temporal bone: clinical, morphological and tumor biological characteristics of challenging neoplastic lesions.

PubMed

Duderstadt, M; Förster, Christine; Welkoborsky, H-J; Ostertag, H

2012-03-01

Adenomatous tumors of the middle ear and temporal bone are rare tumors. In this retrospective study, we examined nine patients who underwent surgery for an adenomatous tumor of the middle ear, mastoid cavity or eustachian tube. In seven patients, a middle ear adenoma (MEA) and in two patients an aggressive papillary tumor (APT) was diagnosed. We report the clinical, radiologic, morphologic, immunohistochemical and DNA image cytometrical characteristics that can help to correctly classify these tumors. Therapy consisted of surgical excision of the tumors in eight cases. In one elderly patient, only a large biopsy was taken, because this patient suffered from cardial and kidney disorders and was not suitable for an extended surgical approach. This patient received stereotactic radiotherapy. Seven patients underwent planned second look operation. Recurrences occurred in three patients (one with APT, two with MEA), whereas in two of these cases rather a residual tumor due to initial incomplete tumor resection occurred. By image analysis, DNA cytometry MEA were considered benign, whereas the appearance of aneuploid tumor cells in APT confirmed these tumors as low grade malignant lesions. The proliferation rates were equally low in both entities. APT and MEA are tumor entities which can only be correctly classified by a synopsis of histopathology, immunohistochemistry and DNA image cytometry. The recommended therapy is the complete tumor excision. In cases of APT, von Hippel-Lindau syndrome has to be excluded.

Co-existence of idiopathic cecal ulcer and incidental appendix carcinoid tumor

PubMed Central

İnce, Volkan; Barut, Bora; Karakaş, Serdar

2016-01-01

Idiopathic cecal ulcer or solitary cecal ulcer is a rare entity that can only be diagnosed by histopathological evaluation. Generally, it is diagnosed by histolopathological evaluation of biopsy specimens obtained by colonoscopy that is performed for lower gastrointestinal bleeding. It can also be diagnosed after surgical resection performed for acute abdomen or cecal mass mimicking malignancy. Cecal carcinoid tumor is a rare cause of this condition; however, coexistence of cecal ulcer and appendix carcinoid tumor has not been previously reported. In this case, we present a 73-year-old woman who clinically presented as acute appendicitis with cecal wall thickening, underwent right hemicolectomy and was subsequently diagnosed with cecal ulcer, serosal abscess and coexisting appendix carcinoid tumor. PMID:28149127

[A rare primary tumor of the mediastinum: pleomorphic liposarcoma].

PubMed

Msaad, S; Yangui, I; Ayedi, L; Ketata, W; Sellami, T; Ayoub, A; Jlidi, R

2007-12-01

Liposarcoma of the mediastinum is a rare tumor with various histologic features. We report a case of mediatinal pleomorphic liposarcoma in a 37-year-old man who complained of chest pain. Computed tomography showed an anterior expansive process within the mediastinum. Histological diagnosis was established by a trans-thoracic computed tomography guided core-needle biopsy. Despite a first cure of chemotherapy with gemcitabin/cisplatin, disease progression led to death 3 months after diagnosis. Mediastinal pleomorphic liposarcoma is an exceptional invading tumor affecting the middle-aged adult. This tumor, usually giant, becomes symptomatic by compression of mediastinal structures. Surgery is the best treatment when possible. The role of radiotherapy and chemotherapy are discussed. Prognosis depends both on the quality of resection and the grade malignancy.

Pulmonary lipomatous hemangiopericytoma: report of a rare tumor and comparison with solitary fibrous tumor.

PubMed

Yamazaki, Kazuto; Eyden, Brian P

2007-01-01

Lipomatous hemangiopericytoma is a rare mesenchymal tumor showing areas of lipid-containing cells admixed with a spindle-cell component. Like other hemangiopericytomas, it shows a similar vascular pattern to solitary fibrous tumor and, partly for this reason, it and other hemangiopericytomas have been subsumed into solitary fibrous tumor. The present study provides a comprehensive documentation of a single case of pulmonary lipomatous hemangiopericytoma of the lung, the first to be described at this site, and compares it with solitary fibrous tumor, in terms of clinical, histological, immunohistochemical, ultrastructural, and cytogenetic findings. Apart from the lipid-laden-cell component, pulmonary lipomatous hemangiopericytoma and solitary fibrous tumor were similar histologically. Bcl-2 was positive in both. CD34 was minimally expressed in pulmonary lipomatous hemangiopericytoma, which possessed some non-descriptive intercellular junctions, a feature shared by solitary fibrous tumor, which was CD34 positive. However, one of the latter was rich in gap junctions, a feature consistent with strong connexin (Cx) 43 staining and the existence, hitherto unappreciated, of a CD34/Cx43-positive tumor cell network. In pulmonary lipomatous hemangiopericytoma, chromosomal deletions of 43-44, X, -Y were found. In solitary fibrous tumor, 46, XY, del(13)(q?) abnormalities and abnormalities involving chromosome 10 were frequently observed. These similarities and differences are discussed in the context of the currently favored diagnostic fusion of hemangiopericytoma and solitary fibrous tumor.

NCI-CONNECT - Comprehensive Oncology Network Evaluating Rare CNS Tumors | Center for Cancer Research

Cancer.gov

NCI-CONNECT:  Comprehensive Oncology Network Evaluating Rare CNS Tumors Purpose NCI-CONNECT aims to advance the understanding of rare adult central nervous system (CNS) cancers by establishing and fostering patient-advocacy-provider partnerships and networks to improve approaches to care and treatment.

A rare case of malignant triton tumor in the cerebellopontine angle.

PubMed

Gong, Li; Liu, Xiao-Yan; Zhang, Wen-Dong; Han, Xiu-Juan; Yao, Li; Zhu, Shao-Jun; Lan, Miao; Li, Yan-Hong; Zhang, Wei

2012-04-19

Malignant triton tumor (MTT) is defined as malignant peripheral nerve sheath tumor with rhabdomyoblastic differentiation. Intracranial MTT is extremely rare, and only four cases have been reported in the literature. Here, we report a case of MTT occurring in the cerebellopontine angle, and describe its histopathological characteristics, immunohistochemical features, and prognosis. The virtual slide(s) for this article can be found here: http://www.diagnosticpathology.diagnomx.eu/vs/1336227313684480.

Locally aggressive and multifocal phosphaturic mesenchymal tumors: two unusual cases of tumor-induced osteomalacia.

PubMed

Higley, Meghan; Beckett, Brooke; Schmahmann, Sandra; Dacey, Elizabeth; Foss, Erik

2015-12-01

Tumor-induced osteomalacia (TIO) has long been recognized as a clinical paraneoplastic syndrome. The identification of a unique histopathologic entity, the phosphaturic mesenchymal tumor (PMT), as a distinct etiology for TIO has been a more recent discovery. The majority of published cases describe a solitary, non-aggressive appearing soft tissue or osseous lesions in patients with osteomalacia; aggressive appearing or multifocal lesions appear to be exceedingly rare. These tumors characteristically secrete fibroblast growth factor 23 (FGF23). Elevated serum levels of FGF23 result in phosphate wasting and osteomalacia. In the majority of cases, laboratory abnormalities and clinical signs and symptoms of osteomalacia precede identification of the causative lesion by years. Following diagnosis, complete resection with wide margins to prevent local recurrence is most often curative. Imaging characteristics of PMT are diverse and remain incompletely defined, as the majority of previous publications are outside of the radiologic literature. We present multiple imaging modalities in two cases of patients with debilitating osteomalacia and unusual appearing PMTs: one with a locally aggressive lesion leading to pathologic fracture, the second presenting with exceedingly rare multifocal PMT.

Primary Orbital Chondromyxoid Fibroma: A Rare Case.

PubMed

Mullen, Martin G; Somogyi, Marie; Maxwell, Sean P; Prabhu, Vikram; Yoo, David K

A 56-year-old male with history of chronic sinusitis was found to have a 3 cm left orbital lesion on CT. Subsequent MRI demonstrated a multilobulated enhancing soft tissue lesion at the superotemporal region of the left orbit. Initial biopsy was reported as a low-grade sarcoma. On further evaluation, a consensus was made that the lesion was likely a benign mixed mesenchymal type tumor but should nonetheless be surgically removed. Left lateral orbitotomy was performed which revealed a tumor originating in the lateral orbital bone with segments eroding through the wall of the orbit. Intraoperative frozen sections revealed myoepitheliod tissue with locally aggressive features and the tumor was completely removed. The final histopathologic analysis of the tissue was consistent with a chondromyxoid fibroma. Chondomyxoid fibroma is a rare entity in the orbital bones and is more commonly seen in long bones.

Gastrointestinal stromal tumor of Meckel's diverticulum: a rare cause of intestinal volvulus.

PubMed

Cengız, Fevzi; Sun, Mehmet Ali; Esen, Özgür Sipahi; Erkan, Nazif

2012-08-01

Meckel's diverticulum is the most common congenital abnormality of the gastrointestinal tract. Most cases are asymptomatic; however, when symptomatic, it is often misdiagnosed at presentation. Common complications presenting in adults include bleeding, obstruction, diverticulitis, and perforation. Tumors within a Meckel's diverticulum are rare. Herein, we present a gastrointestinal stromal tumor arising from the Meckel's diverticulum that led to intestinal obstruction by volvulus.

Calcifying epithelial odontogenic tumor, a rare presentation in children: two case reports.

PubMed

Mohanty, Susant; Mohanty, Neeta; Routray, Samapika; Misra, Satya Ranjan; Vasudevan, Vijeev

2014-01-01

Calcifying epithelial odontogenic tumor (CEOT) is a rare and benign odontogenic neoplasm that affects the jaws. It is certainly an atypical instance to find this tumor in children. Here, we present two case reports of CEOT presenting in mandible of a 12- and 13-year-old female child, respectively. CEOT have been reported to show features of malignant transformation also.

A rare case report of squamous-cell carcinoma arising from mature cystic teratoma of ovary.

PubMed

Kalampokas, E; Boutas, I; Kairi-Vasilatou, E; Salakos, N; Panoulis, K; Aravantinos, L; Damaskos, C; Kalampokas, T; Deligeoroglou, E

2014-01-01

The most frequent ovarian germ cell tumors are mature cystic teratomas (MCTs), composing 10-25% of all ovarian neoplasms. MCTs have the potential of undergoing malignant transformation, typically in postmenopausal women, with a frequency of 0.17-3%, with squamous cell carcinoma being the most common malignant tumor arising from MCT. We present the rare clinical entity of a squamous cell carcinoma arising from a mature cystic teratoma in a 56-year-old premenopausal woman as well as diagnostic and therapeutic route followed.

Liposarcoma of Hypopharynx and Esophagus: a Unique Entity?

PubMed

Riva, Giuseppe; Sensini, Matteo; Corvino, Andrea; Garzaro, Massimiliano; Pecorari, Giancarlo

2016-06-01

Liposarcoma is the most common soft tissue sarcoma in adults. It represents approximately 20 % of all mesenchymal malignancies. It most frequently involves retroperitoneum, trunk, and extremities. Hypopharyngeal and esophageal localization of liposarcoma is extremely rare. We performed a systematic review of literature and reported 26 and 33 cases of hypopharyngeal and esophageal liposarcoma. We analyzed natural history, imaging features, histology, treatment, and prognosis, with a specific focus to similarities and differences between tumors of hypopharynx and esophagus. Hypopharyngeal and esophageal liposarcomas have more similarities than differences. Incidence has a peak at 6th and 7th decades. The diagnostic procedures are barium swallow, endoscopic examination, and CT/MR imaging. Well-differentiated liposarcoma represents the most frequent histological subtype. Surgical excision is the main treatment. Endoscopic resection can be useful for pedunculated tumors of hypopharynx and cervical esophagus. Differences between hypopharyngeal and esophageal liposarcoma are represented by local recurrence rate (greater for hypopharyngeal tumors), number of giant tumors, and time to recurrence (greater for esophageal tumors). Finally, liposarcomas of distal esophagus need more extended approaches. Liposarcomas of hypopharynx and cervical esophagus could be considered a unique pathological entity, with similar features and treatment options. Survival rate is dependent on histological type and location. Local recurrence is common, especially for hypopharyngeal liposarcoma, while the risk of lymph node or distant metastasis is very low. Patients should undergo regular examinations to rule out local recurrence, also for a long time, especially for esophageal tumors.

TAMOXIFEN RETINOPATHY DURING TREATMENT OF AN INOPERABLE DESMOID TUMOR.

PubMed

Furst, Meredith; Somogyi, Marie B; Wong, Robert W; Araujo, Dejka; Harper, Clio A

2017-12-08

To evaluate the clinical significance and rarity of tamoxifen retinopathy after a long-term tamoxifen treatment for an inoperable desmoid tumor. Case report. Tamoxifen retinopathy is a condition rarely observed in clinical practice. Although tamoxifen is typically a treatment for breast cancer patients, we present a 68-year-old woman taking tamoxifen for an inoperable desmoid tumor, an equally rare condition. She presented with bilaterally deteriorating vision over the course of a year. Fundoscopic examination revealed parafoveal deposits bilaterally. Spectral domain optical coherence tomography exhibited hyperreflective deposits in all layers of the retina. She had a cumulative treatment dose of 292 g of tamoxifen, and the medication was subsequently stopped. Her vision remained stable 3 months after the cessation of tamoxifen. The development of tamoxifen retinopathy in the treatment of a desmoid tumor makes this case a rare entity, and this is the first reported case of these two concomitant conditions to our knowledge. With the use of long-term tamoxifen as a primary treatment, we recommend screening at regular intervals by an ophthalmologist as an integral part of treatment.

Nivolumab and Ipilimumab in Treating Patients With Rare Tumors

ClinicalTrials.gov

2018-06-27

; Pseudomyxoma Peritonei; Rare Disorder; Scrotal Squamous Cell Carcinoma; Seminal Vesicle Adenocarcinoma; Seminoma; Serous Cystadenocarcinoma; Small Intestinal Adenocarcinoma; Small Intestinal Squamous Cell Carcinoma; Spindle Cell Neoplasm; Squamous Cell Carcinoma of the Penis; Teratoma With Malignant Transformation; Testicular Non-Seminomatous Germ Cell Tumor; Thyroid Gland Carcinoma; Tracheal Carcinoma; Transitional Cell Carcinoma; Undifferentiated Gastric Carcinoma; Ureter Adenocarcinoma; Ureter Squamous Cell Carcinoma; Urethral Adenocarcinoma; Urethral Squamous Cell Carcinoma; Vaginal Adenocarcinoma; Vaginal Squamous Cell Carcinoma, Not Otherwise Specified; Vulvar Carcinoma

[Solitary Fibrous Tumor: a Rare Cause of Recurrent Severe Hypoglycemia].

PubMed

Kühn-Velten, Ute; Hohmann, Christian; Strauss, Tim; Heizmann, Oleg; Klöppel, Günter

2018-06-01

 A 73-year-old woman was admitted to hospital early in the morning by an emergency doctor in initially unclear comatose conditions with a blood glucose of 24 mg/dl. There were no important previous diseases requiring any medication. She was in good physical state.  Except for a lowered breath sound on the right side of the chest the physical findings were normal. Endocrinologic tests, diagnostic imaging (Chest-x-ray, ultrasonography of abdomen and pleura, abdominal and thoracic CT) and fine needle biopsy suggested a non-islet-cell-tumor on the right side of the pleura as cause of hypoglycemia.  Resection of the tumor resulted in normoglycemia and the pathologic examination of the tumor specimen revealed a solid fibrous tumor. A solid fibrous tumor is a relatively common cause of the rare syndrome of non-islet-cell-tumor hypoglycemia. It shows typical endocrinologic findings, which immediately help to clarify the differential diagnosis with other causes of severe hypoglycemia. Early thorough endocrinologic testing is therefore paramount for the recognition of this distinct hypoglycemic disease which is related to the release of IGF-2, respectively Big-IGF-2, from the tumor cells. © Georg Thieme Verlag KG Stuttgart · New York.

Malignant Hidradenocarcinoma in the Lower Extremity: A Case Report of a Rare Tumor.

PubMed

Kane, Brendan; Adler, Evan; Bhandari, Tarun; Rose, Michael; DiGuglielmo, Nicola; Sun, Xiu

Malignant hidradenocarcinomas are rare soft tissue tumors of sweat gland origin. We present the case of a soft tissue, fungating tumor of 15 years' duration of the medial ankle in an 85-year-old male that exhibited malignant features clinically and radiographically. Subsequent punch biopsy revealed a diagnosis of malignant hidradenocarcinoma. Given the risk of recurrence and the poor radiation and chemotherapy options, the patient initially decided to leave the lesion untreated. However, he soon developed lower extremity cellulitis from the exposed lesion and decided to have the tumor excised, eliminating the source of the infection. In the present case study, we discuss the etiology, clinical and radiographic characteristics, and treatment options for this rare lesion. At the 18-month follow-up visit, he had had no recurrence of the lesion. Copyright © 2017 The American College of Foot and Ankle Surgeons. Published by Elsevier Inc. All rights reserved.

[Epithelioid leiomyosarcoma of the stomach. Clinical experiences with a rare stomach tumor].

PubMed

Hauser, H; Steindorfer, P; Mischinger, H J; Thalhammer, M; Kronberger, L; Rosanelli, G; Lax, S F

1995-01-01

Gastric epithelioid leiomyosarcoma (epLMS), which generally occurs in mid- or late adult life, is a rare smooth muscle tumor of the stomach. Out of 25 soft tissue tumors of the stomach operated at the Department of Surgery, University of Graz, two epLMS were diagnosed. This paper presents the case of a 67-year-old male with an epLMS in the corpus and of a 80-year-old female with an epLMS in the fundus of the stomach. The tumors were not diagnosed by gastroscopy; they were localized by sonography and CT-scan. In both cases the tumor was completely removed surgically, using a TA 90 4.8 mm respectively a TA 55 4.8 mm stapler. Diagnosis was reached by histological and immunohistochemical examination of the tumor tissue. Surgical excision with wide tumor-free resection margins is the therapy of choice in this tumor group.

A rare case with synchronous gastric gastrointestinal stromal tumor, pancreatic neuroendocrine tumor, and uterine leiomyoma.

PubMed

Arabadzhieva, Elena; Yonkov, Atanas; Bonev, Sasho; Bulanov, Dimitar; Taneva, Ivanka; Vlahova, Alexandrina; Dikov, Tihomir; Dimitrova, Violeta

2016-11-15

Although gastrointestinal stromal tumors (GISTs) are the most common mesenchymal tumors of the gastrointestinal tract, they comprise less than 1% of all gastrointestinal tumors. Neuroendocrine tumors (NET) of the gastro-enteropancreatic system are also rare, representing about 2% of all gastrointestinal neoplasms. Pancreatic localization of NET is extremely uncommon-these tumors are only 1-5% of all pancreatic cancers. We describe an unusual case with triple tumor localization-a gastric tumor, a formation in the pancreas, which involves the retroperitoneal space, and a uterine leiomyoma. The exact diagnosis was confirmed with immunohistochemical study after surgical treatment of the patient. Distal pancreatic resection, splenectomy, partial gastrectomy, omentectomy, and hysterectomy were performed. The histological examination proved an epithelioid type of gastric GIST. Immunostaining showed focal positive expression of c-kit and no mitotic figures per 50 HPF. Histology of the pancreatic and retroperitoneal formation proved a well-differentiated NET with origin from the islets of Langerhans. The immunohistochemical study demonstrated co-expression of chromogranin A and synaptophysin. This is the fourth case published so far of a patient with synchronous pancreatic NET and gastric GIST. The main objective of the study is to present a unique case because we have not found any reports for coexistence of the described three types of neoplasm, as in our patient, and we hope that it will be valuable in the future investigations about the genesis, diagnosis, and treatment of these types of tumors.

Brown tumors of the anterior skull base as the initial manifestation of true normocalcemic primary hyperparathyroidism: report of three cases and review of the literature.

PubMed

Khalatbari, Mahmoud Reza; Hamidi, Mehrdokht; Moharamzad, Yashar; Setayesh, Ali; Amirjamshidi, Abbas

2013-01-01

Brown tumor is a bone lesion secondary to hyperparathyroidism of various etiologies. Skeletal involvement in primary hyperparathyroidism secondary to parathyroid adenoma is very uncommon and brown tumor has become extremely a rare clinical entity. Hyperparathyroidism is usually associated with high levels of serum calcium. Brown tumor as the only and initial symptom of normocalcemic primary hyperparathyroidism is extremely rare. Moreover, involvement of the skull base and the orbit is exceedingly rare. The authors would report three cases of brown tumor of the anterior skull base that were associated with true normocalcemic primary hyperparathyroidism. Clinical manifestations, neuroimaging findings, pathological findings, diagnosis and treatment of the patients are discussed and the relevant literature is reviewed.

Fusion genes with ALK as recurrent partner in ependymoma-like gliomas: a new brain tumor entity?

PubMed Central

Olsen, Thale Kristin; Panagopoulos, Ioannis; Meling, Torstein R.; Micci, Francesca; Gorunova, Ludmila; Thorsen, Jim; Due-Tønnessen, Bernt; Scheie, David; Lund-Iversen, Marius; Krossnes, Bård; Saxhaug, Cathrine; Heim, Sverre; Brandal, Petter

2015-01-01

Background We have previously characterized 19 ependymal tumors using Giemsa banding and high-resolution comparative genomic hybridization. The aim of this study was to analyze these tumors searching for fusion genes. Methods RNA sequencing was performed in 12 samples. Potential fusion transcripts were assessed by seed count and structural chromosomal aberrations. Transcripts of interest were validated using fluorescence in situ hybridization and PCR followed by direct sequencing. Results RNA sequencing identified rearrangements of the anaplastic lymphoma kinase gene (ALK) in 2 samples. Both tumors harbored structural aberrations involving the ALK locus 2p23. Tumor 1 had an unbalanced t(2;14)(p23;q22) translocation which led to the fusion gene KTN1-ALK. Tumor 2 had an interstitial del(2)(p16p23) deletion causing the fusion of CCDC88A and ALK. In both samples, the breakpoint of ALK was located between exons 19 and 20. Both patients were infants and both tumors were supratentorial. The tumors were well demarcated from surrounding tissue and had both ependymal and astrocytic features but were diagnosed and treated as ependymomas. Conclusions By combining karyotyping and RNA sequencing, we identified the 2 first ever reported ALK rearrangements in CNS tumors. Such rearrangements may represent the hallmark of a new entity of pediatric glioma characterized by both ependymal and astrocytic features. Our findings are of particular importance because crizotinib, a selective ALK inhibitor, has demonstrated effect in patients with lung cancer harboring ALK rearrangements. Thus, ALK emerges as an interesting therapeutic target in patients with ependymal tumors carrying ALK fusions. PMID:25795305

Clear cell hidradenocarcinoma of the breast: a very rare breast skin tumor.

PubMed

Mezzabotta, Maurizio; Declich, Paolo; Cardarelli, Mery; Bellone, Stefano; Pacilli, Paolo; Riggio, Eliana; Pallino, Antonio

2012-01-01

Hidradenocarcinoma is an uncommon malignant intradermal tumor of sweat gland origin with a predilection for the face and extremities. It is encountered equally in males and females, usually in the second half of life. These tumors tend to be locally aggressive. In our case, the tumor was located relatively superficially but without any apparent connection to the overlying skin. The typical disease course includes local and sometimes multiple recurrences, and some patients develop regional lymph node and distant metastases. These type of tumors in the parenchyma of the breast are extremely rare. We report a case of hidradenocarcinoma in a 77-year-old woman who presented with a palpable inflammatory nodule in the right breast.

Giant cell angiofibroma of the scalp: A benign rare neoplasm with bone destruction

PubMed Central

Arifin, Muhammad Z.; Tjahjono, Firman P.; Faried, Ahmad; Gill, Arwinder S.; Cahyadi, Alexander; Hernowo, Bethy S.

2013-01-01

Background: The incidence of extraorbital giant cell angiofibroma (GCA) is rare, with only one case located in the scalp reported in the literature. The morphological hallmark is histopathological examination showing richly vascularized pattern-less spindle cell proliferation containing pseudovascular spaces and floret-like multinucleate giant cells. Case Description: We report a case of a 30-year-old female with a primary complaint of a painless solitary nodule arising on the left parietal region of the scalp. Complete tumor removal through surgical intervention was achieved, and the postoperative period was uneventful. Conclusion: Diagnosing a highly vascularized tumor in the head and neck is challenging. Our case is unique in that it is presented as a GCA of the scalp, which is an extremely rare clinical entity, and also demonstrated bone destruction. PMID:24231802

Multiple Ewing Sarcoma/Primitive Neuroectodermal Tumors in the Mediastinum

PubMed Central

Bae, Sung Hwan; Hwang, Jung Hwa; Da Nam, Bo; Kim, Hyun Jo; Kim, Ki-Up; Kim, Dong Won; Choi, In Ho

2016-01-01

Abstract Ewing sarcoma/primitive neuroectodermal tumors (ES/PNET) are high-grade malignant neoplasms. These malignancies present very rare tumors of thoracopulmonary area and even rarer in the mediastinum. In our knowledge, ES/PNET presented with multiple mediastinal masses has not been reported previously. We experienced a case of a 42-year-old man presented with gradual onset of left-side pleuritic chest pain. A contrast-enhanced chest computed tomography (CT) scan showed separate 2 large heterogeneously enhancing masses in each anterior and middle mediastinum of the left hemithorax. Positron emission tomography-computed tomography (PET-CT) scan revealed high fluorodeoxyglucose (FDG) uptake in the mediastinal masses. After surgical excision for the mediastinal masses, both of the masses were diagnosed as the ES/PNET group of tumors on the histopathologic examination. The patient refused postoperative adjuvant chemotherapy and came back with local tumor recurrence and distant metastasis on 4-month follow-up after surgical resection. We report this uncommon form of ES/PNET. We are to raise awareness that this rare malignancy should be considered as a differential diagnosis of the malignant mediastinal tumors and which can be manifested as multiple masses in a patient. Understanding this rare entity of extra-skeletal ES/PNET and characteristic imaging findings can help radiologists and clinicians to approach proper diagnosis and better management for this highly malignant tumor. PMID:26886614

Massive ovarian oedema: a misleading clinical entity.

PubMed

Machairiotis, Nikolaos; Stylianaki, Aikaterini; Kouroutou, Paraskevi; Sarli, Polixeni; Alexiou, Nikolaos Konstantinos; Efthymiou, Elias; Maras, Athanasios; Alexiou, Nikolaos Georgios; Nikolaou, Spyridon Evaggelos; Courcoutsakis, Nikolaos; Papakonstantinou, Eleni; Zarogoulidis, Paul; Barbetakis, Nikolaos; Paliouras, Dimitrios; Gogakos, Apostolos; Machairiotis, Christodoulos

2016-02-03

Massive ovarian oedema is a rare non-neoplastic clinicopathologic entity has a higher incidence in women during their second and third life decade. The oedema can be presented in one or both ovaries as a result of partial intermittent torsion of the ovarian pedicle that interferes to the venal and lymphatic drainage of the ovary. We present a clinical case of a 16 year old with massive ovarian oedema and we performed a review of the literature. The pathophysiology of this entity is very complex. We tried to perform a complete review of the literature and focus on the complexity of this entity as far as its pathophysiological backround is concerned and as far as its clinical presentation is concerned. In conclusion, massive ovarian oedema is a rare, multi disease mimicking clinical entity, with an acute or progressive clinical presentation. It has also to be a part of our differential diagnosis in cases of acute abdominal pain and we have to try to treat her conservatively, in order to preserve fertility.

confFuse: High-Confidence Fusion Gene Detection across Tumor Entities.

PubMed

Huang, Zhiqin; Jones, David T W; Wu, Yonghe; Lichter, Peter; Zapatka, Marc

2017-01-01

Background: Fusion genes play an important role in the tumorigenesis of many cancers. Next-generation sequencing (NGS) technologies have been successfully applied in fusion gene detection for the last several years, and a number of NGS-based tools have been developed for identifying fusion genes during this period. Most fusion gene detection tools based on RNA-seq data report a large number of candidates (mostly false positives), making it hard to prioritize candidates for experimental validation and further analysis. Selection of reliable fusion genes for downstream analysis becomes very important in cancer research. We therefore developed confFuse, a scoring algorithm to reliably select high-confidence fusion genes which are likely to be biologically relevant. Results: confFuse takes multiple parameters into account in order to assign each fusion candidate a confidence score, of which score ≥8 indicates high-confidence fusion gene predictions. These parameters were manually curated based on our experience and on certain structural motifs of fusion genes. Compared with alternative tools, based on 96 published RNA-seq samples from different tumor entities, our method can significantly reduce the number of fusion candidates (301 high-confidence from 8,083 total predicted fusion genes) and keep high detection accuracy (recovery rate 85.7%). Validation of 18 novel, high-confidence fusions detected in three breast tumor samples resulted in a 100% validation rate. Conclusions: confFuse is a novel downstream filtering method that allows selection of highly reliable fusion gene candidates for further downstream analysis and experimental validations. confFuse is available at https://github.com/Zhiqin-HUANG/confFuse.

Embryonal tumor with abundant neuropil and true rosettes: an autopsy case-based update and review of the literature.

PubMed

Adamek, Dariusz; Sofowora, Kolawole D; Cwiklinska, Magdalena; Herman-Sucharska, Izabela; Kwiatkowski, Stanislaw

2013-05-01

Embryonal tumor with abundant neuropil and true rosettes (ETANTR) is a rare subtype of primitive neuroectodermal tumors first reported in 2000. It is rare among the group of embryonal central nervous system tumors with approximately 50 reported cases. ETANTR has been suggested to be a separate entity among this group of tumors. Herein, we present only the second autopsy case of ETANTR, which occurred in a 17-month-old boy, and was located in the brainstem. The tumor was inoperable, and despite chemotherapy, the child died 3 months after initial hospitalization. A brain only autopsy was performed. Neuropathological and neuroimaging examinations suggest ETANTR grew by expansion rather than invasion distorting anatomical structures of the posterior fossa. We suggest that the characteristic histopathological picture of the tumor is the result of multifocal and dispersed germinative activity surrounded by mature neuropil-like areas. ETANTR is a pediatric tumor occurring in children under 4 with a significantly poor prognosis with more cases and research required to characterize this rare embryonal tumor.

Juvenile granulosa cell tumor of testis: case report and review of literature.

PubMed

Dudani, Rajesh; Giordano, Lisa; Sultania, Priyanka; Jha, Kamlesh; Florens, Adrian; Joseph, Tessy

2008-04-01

Juvenile granulosa cell tumor (JGCT) of testis is extremely rare in childhood. It is considered a benign entity because metastasis has never been reported. Testicular-sparing surgery is the recommended treatment. We reported this case in a newborn who presented with unilateral scrotal swelling. Histopathology and immunohistochemistry confirmed JGCT. Follow-up at 6 months after surgery did not show any recurrence. Even though JGCT is very rare in childhood, it is one of the important differentials of newborn scrotal mass.

Rare incidence of tumor lysis syndrome in metastatic prostate cancer following treatment with docetaxel.

PubMed

Bhardwaj, Sharonlin; Varma, Seema

2018-03-01

Tumor lysis syndrome is a serious and sometimes lethal complication of cancer treatment that is comprised of a set of metabolic disturbances along with clinical manifestations. Initiating chemotherapy in bulky, rapidly proliferating tumors causes rapid cell turnover that in turn releases metabolites into circulation that give rise to metabolic derangements that can be dangerous. This syndrome is usually seen in high-grade hematological malignancies. Less commonly, tumor lysis syndrome can present in solid tumors and even rarely in genitourinary tumors. In this report, the authors describe a specific case of tumor lysis syndrome in a patient with metastatic prostate cancer following treatment with docetaxel.

Concomitant Epstein-Barr Virus-associated smooth muscle tumor and granulomatous inflammation of the liver.

PubMed

Can, Nhu Thuy; Grenert, James P; Vohra, Poonam

2017-10-01

Epstein-Barr Virus-associated smooth muscle tumor (EBV-SMT) is a rare mesenchymal tumor typically seen in immunocompromised patients. Here, we report a case of EBV-SMT and associated granulomatous inflammation in the liver of a 32-year-old man with history of human immunodeficiency virus/acquired immune deficiency syndrome (HIV/AIDS). To our knowledge, an association of these two lesions has not been previously reported. We review the literature and discuss pathogenesis, differential diagnosis and immunohistochemical (IHC) stains helpful for the diagnosis of this rare entity. Finally, we consider possible explanations for the concomitant presence of these lesions. Published by Elsevier GmbH.

Borderline Brenner tumor of the ovary: a case report with immunohistochemical and molecular study.

PubMed

De Cecio, Rossella; Cantile, Monica; Collina, Francesca; Marra, Laura; Santonastaso, Clemente; Scaffa, Cono; Botti, Gerardo; Losito, Nunzia Simona

2014-10-29

Borderline Brenner tumor of the ovary is a rare entity characterized by papillary structures with a fibro-vascular core, covered by a transitional epithelium, and by the absence of stromal infiltration. It is associated, by definition, with a benign component of Brenner tumor. We report a case of a 68-year-old woman, with a right ovarian mass, whose morphology and immuno-profile were consistent with the diagnosis of a borderline Brenner tumor. Immunohistochemistry carried out on selected markers may help to formulate the diagnosis, more than the molecular analyses.

[Rare tumors of the head and neck; on behalf of the REFCOR, the French Network of rare head and neck tumors].

PubMed

Baujat, Bertrand; Thariat, Juliette; Baglin, Anne Catherine; Costes, Valérie; Testelin, Sylvie; Reyt, Emile; Janot, François

2014-05-01

Malignant tumors of the upper aerodigestive tract may be rare by their histology (sarcoma, variants of conventional squamous cell carcinomas) and/or location (sinuses, salivary glands, ear, of various histologies themselves). They represent less than 10% of head and neck neoplasms. The confirmation of their diagnosis often requires a medical expertise and sometimes biomolecular techniques complementary to classical histology and immunohistochemistry. Due to their location, their treatment often requires a specific surgical technique. Radiation therapy is indicated based on histoclinical characteristics common to other head and neck neoplasms but also incorporate grade. Further, the technique must often be adapted to take into account the proximity of organs at risk. For most histologies, chemotherapy is relatively inefficient but current molecular advances may allow to consider pharmaceutical developments in the coming years. The REFCOR, the French Network of head and neck cancers aims to organize and promote the optimal management of these rare and heterogeneous diseases, to promote research and clinical trials.

Breast cancer - one term, many entities?

PubMed

Bertos, Nicholas R; Park, Morag

2011-10-01

Breast cancer, rather than constituting a monolithic entity, comprises heterogeneous tumors with different clinical characteristics, disease courses, and responses to specific treatments. Tumor-intrinsic features, including classical histological and immunopathological classifications as well as more recently described molecular subtypes, separate breast tumors into multiple groups. Tumor-extrinsic features, including microenvironmental configuration, also have prognostic significance and further expand the list of tumor-defining variables. A better understanding of the features underlying heterogeneity, as well as of the mechanisms and consequences of their interactions, is essential to improve targeting of existing therapies and to develop novel agents addressing specific combinations of features.

[A rare tumor of the parapharyngeal space: myxoid chondrosarcoma].

PubMed

Bahri, I; Boudawara, T; Sellami, A; Khabir, A; Ghorgel, M; Drira, M; Daoud, J; Jlidi, R

2002-01-01

Extrasqueletal myxoid chondrosarcoma (EMC) is an uncommon soft tissue malignant tumor, locally aggressive with a high incidence of distant metastasis. It has distinctive clinical, immunophenotypic, cytogenetic and ultrastructural features. Most EMC are associated with the translocation t(9;22) (q22;q12). Their occurrence in the parapharyngeal space is extremely rare. Our objective is to discuss the difficulties of the histological diagnosis of EMC and to describe its immunophenotypic, cytogenetic features and clinical behavior. We report a case of a 67 years old woman who presented with a five months history of dysphagia. The oral examination found a mass displacing the posterior and left walls of the pharynx. Surgical resection of the tumor was undertaken. The pathologic examination concluded to the diagnosis of an EMC of the left parapharygeal space. Now, the patient is receiving an adjuvant radiotherapy.

Rare angioproliferative tumors mimicking aggressive spinal hemangioma with epidural expansion.

PubMed

Kulcsár, Zsolt; Veres, Róbert; Hanzély, Zoltán; Berentei, Zsolt; Marosfoi, Miklós; Nyáry, István; Szikora, István

2012-01-30

We present two cases of angio-proliferative tumors that were misdiagnosed and treated as typical hemangiomas with epidural expansion. Two middle-aged women presented with symptoms and radiological signs characteristic for aggressive hemangioma with epidural expansion. In the first case preoperative embolization and decompressive surgery with open transpedicular vertebroplasty was performed. Within less than a year, epidural recurrence of the tumor prompted for radical excision and corpectomy. The diagnosis after the histological studies and the further clinical evolution was metastasizing leiomyomatosis. No further recurrence occured during the next 6 years. In the second case percutaneous vertebroplasty was performed and complicated by epidural polymethyl-methacrylcate (PMMA) leakage, requiring urgent decompressive surgery. Histological study of the lesion raised the possibility of myopericytoma. This was confirmed 16 months later when complete vertebrectomy was performed due to severe epidural propagation of the recurring tumor. No further recurrence occurred in next the two years. Rare angio-proliferative tumors, like benign metastasizing leiomyoma and myopericytoma radiologically may resemble aggressive vertebral hemangiomas of the spine. Unlike hemangiomas, such tumors require radical removal due to their likely recurrence. As imaging studies may not be able to completely exclude such pathologies, bone biopsy and thorough histopathological studies are warranted prior to the therapeutic decision.

CNN-based ranking for biomedical entity normalization.

PubMed

Li, Haodi; Chen, Qingcai; Tang, Buzhou; Wang, Xiaolong; Xu, Hua; Wang, Baohua; Huang, Dong

2017-10-03

Most state-of-the-art biomedical entity normalization systems, such as rule-based systems, merely rely on morphological information of entity mentions, but rarely consider their semantic information. In this paper, we introduce a novel convolutional neural network (CNN) architecture that regards biomedical entity normalization as a ranking problem and benefits from semantic information of biomedical entities. The CNN-based ranking method first generates candidates using handcrafted rules, and then ranks the candidates according to their semantic information modeled by CNN as well as their morphological information. Experiments on two benchmark datasets for biomedical entity normalization show that our proposed CNN-based ranking method outperforms traditional rule-based method with state-of-the-art performance. We propose a CNN architecture that regards biomedical entity normalization as a ranking problem. Comparison results show that semantic information is beneficial to biomedical entity normalization and can be well combined with morphological information in our CNN architecture for further improvement.

Pigmented perivascular epithelioid cell tumor of the liver: report of a rare case with brief review of literature.

PubMed

Patra, Susama; Vij, Mukul; Kota, Venugopal; Kancherla, Ravindranath; Rela, Mohamed

2013-01-01

The perivascular epithelioid cell tumor (PEComa) family of tumors includes angiomyolipoma, lymphangioleiomyomatosis, clear cell sugar tumor of the lung, clear cell myomelanocytic tumor of the falciform ligament/ligamentum teres, and rare clear cell tumors of other anatomical sites (PEComas-NOS). Among the PEComas-NOS, pigmented variants are extremely rare. The case concerns a 50-year-old female who presented with pain in right hypochondrium. The resected specimen included a 24 × 18 × 9 cm mass. The tumor was histologically characterized by both spindle and epithelioid cells with round to oval nuclei and clear to eosinophilic cytoplasm containing abundant melanin pigment. The stroma demonstrated intervening, thin, fibrovascular septa. Immunohistochemically, the tumor cells were strongly positive for HMB-45, weak positive for smooth muscle actin (SMA), and negative for Hep Par 1, Glypican 3, MUM-1, and S-100 protein. The patient had no evidence of disease 24 months after surgery. Pathologists and clinicians should know about the existence of pigmented perivascular epithelioid cell tumor of the liver.

Acute Leukemia and Concurrent Mediastinal Germ Cell Tumor: Case Report and Literature Review.

PubMed

Maese, Luke; Li, K David; Xu, Xinjie; Afify, Zeinab; Paxton, Christian N; Putnam, Angelica

2017-04-01

There is a known association of primary nonseminomatous mediastinal germ cell tumors (NSMGCT) and hematologic malignancy in younger males not linked to treatment. When combined these two rare entities convey a very poor prognosis. Here we report a 16-year-old male with an anterior mediastinal mass diagnosed as a malignant germ cell tumor based on elevation of serologic markers. He was found to have acute leukemia with megakaryocytic differentiation several days later. We focus our report on the pathologic findings, including a review of the literature, and a novel molecular analysis of the germ cell tumor.

Differences in MYB expression and gene abnormalities further confirm that salivary cribriform basal cell tumors and adenoid cystic carcinoma are two distinct tumor entities.

PubMed

Tian, Zhen; Li, Lei; Zhang, Chun-Ye; Gu, Ting; Li, Jiang

2016-10-01

In practices, some cases of salivary basal cell tumors that consist mainly of cribriform growth pattern are difficult to differentiate from adenoid cystic carcinoma (AdCC). Identification of reliable molecular biomarkers for the differential diagnosis between them is required. Twenty-two cases of cribriform salivary basal cell tumors (at least 10% cribriform pattern present in each tumor) comprising 18 cases of basal cell adenoma (BCA) and four cases of basal cell adenocarcinoma (BcAC) were collected between 1985 and 2008. Twenty cases of cribriform AdCC were retrieved from our archives. MYB protein expression and gene abnormalities were detected in all cases by immunohistochemistry (IHC) and fluorescent in situ hybridization (FISH) analyses, respectively. Neither MYB protein nor split genes were detected in any of the cases of cribriform basal cell tumors, while 55% (11/20) of cases of cribriform AdCC had MYB protein expression. High MYB expression was detected in 81.8% (9/11) cases, while low expression was found in the remaining cases. FISH analysis indicated that nine AdCC tumors with high MYB protein expression were split gene-positive, while MYB gene splitting was not detected in the 11 cases with low or absent MYB protein expression. The molecular changes in AdCC differ from those associated with cribriform basal cell tumors, which further confirms that cribriform basal cell tumors and AdCC are two distinct tumor entities. Simultaneous detection of MYB protein expression and the associated molecular changes could be beneficial in differentiating salivary cribriform basal cell tumors from AdCC. © 2015 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

Solid pseudopapillary tumor of the pancreas: case report and literature review.

PubMed

Camacho-Aguilera, José Francisco; Romero-Mejía, César; Valenzuela-Espinoza, Alfonso

2010-01-01

Solid pseudopapillary tumor of the pancreas is an epithelial tumor of low malignancy that primarily affects young women and represents approximately 1-2% of all pancreatic neoplasms. We present a case of this type of tumor treated in the General Hospital of Tijuana, Mexico, as well as a review of the literature. We present the case of a 37-year-old female with symptomatology of early satiety and abdominal distension. During open cholecystectomy we found a tumor in the body of the pancreas. Biopsy was done, establishing the diagnosis of solid pseudopapillary tumor of the pancreas. The patient was treated successfully with distal pancreatectomy and splenectomy. Solid pseudopapillary tumor of the pancreas is a rare neoplasm. It is more frequent in young women and has an unknown etiology. Clinical manifestations include abdominal pain, sensation of plenitude or early satiety, abdominal mass, nausea and vomiting. Laboratory tests are usually normal. Computerized axial tomography may show a large encapsulated heterogeneous mass. Diagnosis is established through biopsy and surgery is the best treatment for this pathological entity. One may conclude that the solid pseudopapillary tumor is a differential diagnosis in the presence of pancreatic tumors, although due to its rarity it is not the first option to discard. Surgery represents the best treatment for this pathological entity and should be attempted in all cases, independent of the size of the pancreatic injury.

Imaging Biomarkers for Adult Medulloblastomas: Genetic Entities May Be Identified by Their MR Imaging Radiophenotype.

PubMed

Keil, V C; Warmuth-Metz, M; Reh, C; Enkirch, S J; Reinert, C; Beier, D; Jones, D T W; Pietsch, T; Schild, H H; Hattingen, E; Hau, P

2017-10-01

The occurrence of medulloblastomas in adults is rare; nevertheless, these tumors can be subdivided into genetic and histologic entities each having distinct prognoses. This study aimed to identify MR imaging biomarkers to classify these entities and to uncover differences in MR imaging biomarkers identified in pediatric medulloblastomas. Eligible preoperative MRIs from 28 patients (11 women; 22-53 years of age) of the Multicenter Pilot-study for the Therapy of Medulloblastoma of Adults (NOA-7) cohort were assessed by 3 experienced neuroradiologists. Lesions and perifocal edema were volumetrized and multiparametrically evaluated for classic morphologic characteristics, location, hydrocephalus, and Chang criteria. To identify MR imaging biomarkers, we correlated genetic entities sonic hedgehog ( SHH ) TP53 wild type, wingless ( WNT ), and non -WNT/ non -SHH medulloblastomas (in adults, Group 4), and histologic entities were correlated with the imaging criteria. These MR imaging biomarkers were compared with corresponding data from a pediatric study. There were 19 SHH TP53 wild type (69%), 4 WNT -activated (14%), and 5 Group 4 (17%) medulloblastomas. Six potential MR imaging biomarkers were identified, 3 of which, hydrocephalus ( P = .03), intraventricular macrometastases ( P = .02), and hemorrhage ( P = .04), when combined, could identify WNT medulloblastoma with 100% sensitivity and 88.3% specificity (95% CI, 39.8%-100.0% and 62.6%-95.3%). WNT -activated nuclear β-catenin accumulating medulloblastomas were smaller than the other entities (95% CI, 5.2-22.3 cm 3 versus 35.1-47.6 cm 3 ; P = .03). Hemorrhage was exclusively present in non -WNT/ non -SHH medulloblastomas ( P = .04; n = 2/5). MR imaging biomarkers were all discordant from those identified in the pediatric cohort. Desmoplastic/nodular medulloblastomas were more rarely in contact with the fourth ventricle (4/15 versus 7/13; P = .04). MR imaging biomarkers can help distinguish histologic and genetic

Glial heterotopia of the orbit: a rare cause of proptosis.

PubMed

Bakhti, Souad; Terkmani, Fella; Tighilt, Nabila; Benmouma, Youcef; Boumehdi, Nazim; Djennas, Mohamed

2016-11-01

Glial heterotopia is defined as presence of normal glial tissue in an unusual location without connection with the brain. It is a very rare clinical entity occuring mostly in the head and neck region which is generally present at birth. Orbital location is very rare. We report a case of a 4-month-old girl presenting congenital proptosis with progressive increase. CT scan revealed an intraorbital mass without bony defect. The patient was operated, and resection was subtotal. Histologically, the tumor was composed of glial tissue with plexus choroid and pathologist concluded glial heterotopia. The child is under constant medical supervision because recurrences can be observed after incomplete resection; she had no new clinical signs at 18 months follow-up.

Disseminated Oligodendroglial-like Leptomeningeal Tumor in the Adult: Case Report and Review of the Literature.

PubMed

Fiaschi, Pietro; Badaloni, Filippo; Cagetti, Bernarda; Bruzzone, Luca; Marucci, Gianluca; Dellachà, Anna; Pavanello, Marco; Ganci, Giuseppe; Padolecchia, Riccardo; Valsania, Valtero

2018-06-01

Diffuse leptomeningeal glioneuronal tumor (DLGNT) was recently added to the World Health Organization classification of central nervous system tumors. DLGNT is a rare entity that occurs more commonly in pediatric patients, but occasional cases have been reported in adults. This tumor has been recognized as a distinct pathologic entity; however, its biologic behavior remains unclear. It is considered an indolent neoplasm, although considerable morbidity has been reported. For this reason, further characterization and collection of evidence are crucial. In this article, we reported a case of a 36-year-old woman with a DLGNT characterized by rapid, aggressive behavior. We also performed a review of the literature for reported cases of low-grade and high-grade forms involving adults and children. DLGNTs should no longer be considered only as low-grade tumors affecting pediatric patients. The spectrum of presentations also includes aggressive tumors affecting adults. Further clinical and pathologic data supported by cytogenetic and molecular investigations are mandatory to better characterize DLGNTs. Copyright © 2018 Elsevier Inc. All rights reserved.

ESWR1-CREM Fusion in an Intracranial Myxoid Angiomatoid Fibrous Histiocytoma-Like Tumor: A Case Report and Literature Review.

PubMed

Gareton, Albane; Pierron, Gaëlle; Mokhtari, Karima; Tran, Suzanne; Tauziède-Espariat, Arnault; Pallud, Johan; Louvel, Guillaume; Meary, Eric; Capelle, Laurent; Chrétien, Fabrice; Varlet, Pascale

2018-05-19

Gene fusions of EWSR1 with members of the CREB family of transcription factors (CREB1, ATF1, and CREM) have recently been described in exceptional intracranial myxoid mesenchymal tumors. Although this is a known gene fusion found in various mesenchymal tumors, EWSR1 fusion with CREM has only been observed in 3 intracranial myxoid tumors. In this paper, we present 1 such tumor with in-depth histopathological description and long-term follow-up. There is controversy regarding whether these tumors represent a novel entity or simply an intracranial localization of the myxoid variant of angiomatoid fibrous histiocytoma, a rare soft tissue tumor of the extremities. Out of 11 cases mentioned in the literature, the 3 isolated case reports by Dunham et al, Ochalski et al, and Alshareef et al are designated as angiomatoid fibrous histiocytoma, whereas the others are defined as a novel tumoral entity called intracranial myxoid mesenchymal tumor with EWSR1-CREB fusion. We believe the vast morphological and immunohistochemical spectrum of angiomatoid fibrous histiocytoma makes it difficult to dismiss this diagnosis.

Nephron-sparing surgery for treatment of reninoma: a rare renin secreting tumor causing secondary hypertension.

PubMed

Torricelli, Fabio Cesar Miranda; Marchini, Giovanni Scala; Colombo, Jose Roberto; Coelho, Rafael Ferreira; Nahas, Willian Carlos; Srougi, Miguel

2015-01-01

A 25-year-old hypertensive female patient was referred to our institution. Initial workup exams demonstrated a 2.8 cm cortical lower pole tumor in the right kidney. She underwent laparoscopic partial nephrectomy without complications. Histopathologic examination revealed a rare juxtaglomerular cell tumor known as reninoma. After surgery, she recovered uneventfully and all medications were withdrawn. Case hypothesis: Secondary arterial hypertension is a matter of great interest to urologists and nephrologists. Renovascular hypertension, primary hyperadosteronism and pheocromocytoma are potential diagnosis that must not be forgotten and should be excluded. Although rare, chronic pyelonephritis and renal tumors as rennin-producing tumors, nephroblastoma, hypernephroma, and renal cell carcinoma might also induce hypertension and should be in the diagnostic list of clinicians. Promising future implications: Approximately 5% of patients with high blood pressure have specific causes and medical investigation may usually identify such patients. Furthermore, these patients can be successfully treated and cured, most times by minimally invasive techniques. This interesting case might expand knowledge of physicians and aid better diagnostic care in future medical practice.

[Granular Cell Tumor of the Lung - a Visual Diagnosis on Bronchoscopy?

PubMed

Keymel, S; Büter, S; Krüger, S

2018-05-22

A 38 years old patient presented with a progressive reduction of his general condition and weight loss. Chest imaging revealed consolidations and cavities suggesting a mycobacterial infection. For further diagnosis, a bronchoscopy was performed. In fact, a nontuberculous mycobacterial infection was found. As an incidental finding, we saw a white polypoid tumor in the middle lobe bronchus. The histology of this tumor revealed a granular cell tumor (GCT). The GCT is a rare tumor entity which occurs at different anatomical locations. In the lungs, the GCT may become symptomatic as it can cause bronchial obstruction. In chest imaging, it can manifest as infiltration, atelectasis or nodule. Likewise, GCT can be found as an incidental finding in bronchoscopy. First choice treatment is surgical resection of the tumor. © Georg Thieme Verlag KG Stuttgart · New York.

Fat-forming Solitary Fibrous Tumor of the Kidney - A Case Report and Literature Review.

PubMed

Bacalbasa, Nicolae; Balescu, Irina; Jinescu, George; Marcu, Madalina; Contolenco, Andreea; Pop, Doina; Dobritoiu, Dragos; Ionescu, Olivia; Ionescu, Paris; Stoica, Claudia

2018-01-01

Fat-forming solitary fibrous tumors arising from the kidney are extremely rare, with only few cases reported so far. We report the case of a 49-year-old patient investigated for lumbar pain and diagnosed preoperatively with a large retroperitoneal tumor destroying the right kidney. The patient was submitted to surgery, the tumor being resected en bloc with right nephrectomy. The histopathological studies demonstrated the presence of a hemangiopericytoma-like tumor with adipocytary component; the immunohistochemical studies demonstrated the presence of cluster of differentiation 34 (CD34), while human melanoma black (HMB45) staining was negative. Therefore, the diagnostic of fat-forming solitary fibrous tumor of the kidney was established. The postoperative outcome was uneventful, the patient being discharged on the sixth postoperative day. In conclusion, although fat-forming solitary fibrous tumor of the kidney is a very rare entity, this diagnosis should be taken into consideration whenever a large retroperitoneal mass with high adipose content and renal invasion is described at the preoperative studies. Copyright© 2018, International Institute of Anticancer Research (Dr. George J. Delinasios), All rights reserved.

Mediastinal tuberculous lymphadenitis presenting as an esophageal intramural tumor: A very rare but important cause for dysphagia

PubMed Central

Pimenta, APA; Preto, JR; Gouveia, AMF; Fonseca, E; Pimenta, MML

2007-01-01

Dysphagia associated with esophageal mechanical obstruction is usually related to malignant esophageal diseases. Benign lesions are rarely a cause for this type of dysphagia, and usually occur either as an intramural tumor or as an extrinsic compression. Mediastinal tuberculous lymphadenitis is rare in adults, and even more rarely causes dysphagia. We report two cases of dysphagia in adult patients caused by mediastinal tuberculous lymphadenitis, presenting radiologically and endoscopically as an esophageal submucosal tumor. Based on the clinical and imaging diagnosis, the patients underwent a right thoracotomy, and excision of the mass attached to and compressing the esophagus. Pathological examination of the specimens showed a chronic granulomatous inflammation with caseous necrosis, which was consistent with tuberculous lymphadenitis. PMID:18023110

Extrapelvic endometriosis: a rare entity or an under diagnosed condition?

PubMed Central

2013-01-01

Endometriosis is a clinical entity characterized by the presence of normal endometrial mucosa abnormally implanted in locations other than the uterine cavity. Endometriosis can be either endopelvic or extrapelvicdepending on the location of endometrial tissue implantation. Despite the rarity of extrapelvic endometriosis, several cases of endometriosis of the gastrointestinal tract, the urinarytract, the upper and lower respiratory system, the diaphragm, the pleura and the pericardium, as well as abdominal scars loci have been reported in the literature. There are several theories about the pathogenesis and the pathophysiology of endometriosis. Depending on the place of endometrial tissue implantation, endometriosis can be expressed with a wide variety of symptoms. The diagnosis of this entity is neither easy nor routine. Many diagnostic methods clinical and laboratory have been used, but none of them is the golden standard. The multipotent localization of endometriosis in combination with the wide range of its clinical expression should raise the clinical suspicion in every woman with periodic symptoms of extrapelvic organs. Finally, the therapeutic approach of this clinical entity is also correlated with the bulk of endometriosis and the locum that it is found. It varies from simple observation, to surgical treatment and treatment with medication as well as a combination of those. Virtual slides The virtual slide(s) for this article can be found here: http://www.diagnosticpathology.diagnomx.eu/vs/1968087883113362. PMID:24294950

Papillary tumor of the pineal region: two case studies and a review of the literature.

PubMed

Rickard, Kyle A; Parker, John R; Vitaz, Todd W; Plaga, Alexis R; Wagner, Stephanie; Parker, Joseph C

2011-01-01

Papillary tumor of the pineal region (PTPR) is a newly recognized distinct entity in the 2007 World Health Organization nomenclature. This tumor is characterized by epithelial-appearing areas with papillary features and more densely cellular areas that often display ependymal-like differentiation. Ultrastructurally, this rare neuroepithelial tumor possesses neuroendocrine, secretory, and ependymal organelles that likely originate from the subcommissural organ (SCO) near the aqueduct of Sylvius. To date, approximately fifty-seven described cases worldwide have been recognized, with ages ranging from 5 years to 66 years (mean age=32 years). Clinical presentation most often includes headache and obstructive hydrocephalus. The tumor, which is well circumscribed, may be cystic and radiographically is often considered to be consistent with the findings of a pineocytoma. Microscopic evaluation often demonstrates a lesion with papillary areas lined by epithelioid tumor cells with eosinophilic cytoplasm and more cellular areas with cells exhibiting clear or vacuolated cytoplasm. Perivascular and true rosettes may be identified. Distinctive immunohistochemical features including reactivity for keratins (AE1/AE3, CAM 5.2, CK18) and only focal GFAP staining help distinguish this neoplasm from an ependymoma. The relative paucity of data compiled for this tumor makes giving an accurate diagnosis and prognosis a daunting task. We discuss two additional cases of PTPR that presented to us within a three-month span in order to more fully elucidate the possible presentations of this rare entity. Furthermore, we examine now 59 reported cases of PTPR in order to review the current diagnostic and treatment modalities in addition to exploring emerging research encompassing this unusual neoplasm.

Primary hyperparathyroidism associated with a giant cell tumor: One case in the distal radius.

PubMed

Ouzaa, M R; Bennis, A; Iken, M; Abouzzahir, A; Boussouga, M; Jaafar, A

2015-10-01

Hyperparathyroidism can present itself as brown tumors (or osteolytic expansive lesions) that usually disappear after normalization of calcium and phosphate levels. It rarely occurs simultaneously with a giant cell tumor. The authors report one case of a localized form at the distal radius in a patient being followed for primary hyperparathyroidism. The diagnostic challenges related to the clinical and radiological similarities of these two pathological entities are discussed, as they can lead to delays in therapeutic management. Copyright © 2015 Elsevier Masson SAS. All rights reserved.

A Rare Case of Phyllodes Tumor Metastasis to the Stomach Presenting as Anemia.

PubMed

Choi, Do Il; Chi, Ho Seok; Lee, Sang Ho; Kwon, Youngmee; Park, Seog Yun; Sim, Sung Hoon; Park, In Hae; Lee, Keun Seok

2017-07-01

Metastasis of a phyllodes tumor to the stomach is an extremely rare condition with important clinical implications. A 44-year-old woman was initially diagnosed with a phyllodes tumor in her right breast in 2008, and subsequently presented to an outpatient clinic with dizziness on December 16, 2013. We found that she had severe anemia (hemoglobin levels, 6.7 g/dL), and we quickly performed esophagogastroduodenoscopy to identify the cause. This procedure revealed large ulcerofungating masses with active bleeding in the stomach. Histopathological examination revealed that the masses were consistent with phyllodes tumor metastases. In patients with a metastatic phyllodes tumor presenting as anemia, gastric metastasis should be considered as one of the differential diagnoses because overlooking the possibility might have dire consequences if cytotoxic chemotherapy were administered.

Ovarian Sertoli-Leydig cell tumor with heterologous elements of gastrointestinal type associated with elevated serum alpha-fetoprotein level: an unusual case and literature review

PubMed Central

Horta, Mariana; Cunha, Teresa Margarida; Marques, Rita Canas; Félix, Ana

2014-01-01

Here we describe the case of a 19-year-old woman with a poorly differentiated ovarian Sertoli-Leydig cell tumor and an elevated serum alpha-fetoprotein level. The patient presented with diffuse abdominal pain and bloating. Physical examination, ultrasound, and magnetic resonance imaging revealed a right ovarian tumor that was histopathologically diagnosed as a poorly differentiated Sertoli-Leydig cell tumor with heterologous elements. Her alpha-fetoprotein serum level was undetectable after tumor resection. Sertoli-Leydig cell tumors are rare sex cord-stromal tumors that account for 0.5% of all ovarian neoplasms. Sertoli-Leydig cell tumors tend to be unilateral and occur in women under 30 years of age. Although they are the most common virilizing tumor of the ovary, about 60% are endocrine-inactive tumors. Elevated serum levels of alpha-fetoprotein are rarely associated with Sertoli-Leydig cell tumors, with only approximately 30 such cases previously reported in the literature. The differential diagnosis should include common alpha-fetoprotein-producing ovarian entities such as germ cell tumors, as well as other non-germ cell tumors that have been rarely reported to produce this tumor marker. PMID:25926909

Ovarian Sertoli-Leydig cell tumor with heterologous elements of gastrointestinal type associated with elevated serum alpha-fetoprotein level: an unusual case and literature review.

PubMed

Horta, Mariana; Cunha, Teresa Margarida; Marques, Rita Canas; Félix, Ana

2014-11-01

Here we describe the case of a 19-year-old woman with a poorly differentiated ovarian Sertoli-Leydig cell tumor and an elevated serum alpha-fetoprotein level. The patient presented with diffuse abdominal pain and bloating. Physical examination, ultrasound, and magnetic resonance imaging revealed a right ovarian tumor that was histopathologically diagnosed as a poorly differentiated Sertoli-Leydig cell tumor with heterologous elements. Her alpha-fetoprotein serum level was undetectable after tumor resection. Sertoli-Leydig cell tumors are rare sex cord-stromal tumors that account for 0.5% of all ovarian neoplasms. Sertoli-Leydig cell tumors tend to be unilateral and occur in women under 30 years of age. Although they are the most common virilizing tumor of the ovary, about 60% are endocrine-inactive tumors. Elevated serum levels of alpha-fetoprotein are rarely associated with Sertoli-Leydig cell tumors, with only approximately 30 such cases previously reported in the literature. The differential diagnosis should include common alpha-fetoprotein-producing ovarian entities such as germ cell tumors, as well as other non-germ cell tumors that have been rarely reported to produce this tumor marker.

Phosphaturic mesenchymal tumor, mixed connective tissue variant, of the mandible: report of a case and review of the literature.

PubMed

Woo, Victoria L; Landesberg, Regina; Imel, Erik A; Singer, Steven R; Folpe, Andrew L; Econs, Michael J; Kim, Taeyun; Harik, Lara R; Jacobs, Thomas P

2009-12-01

Tumor-induced osteomalacia (TIO) is a rare paraneoplastic syndrome that results in renal phosphate wasting with hypophosphatemia. In most cases, the underlying cause of TIO is a small mesenchymal neoplasm that is often difficult to detect, resulting in delayed diagnosis. One such neoplasm is the phosphaturic mesenchymal tumor, mixed connective tissue variant (PMTMCT), an unusual entity with unique morphologic and biochemical features. Most of these tumors are found at appendicular sites with only rare cases reported in the jaws. We describe a PMTMCT involving the mandible in a patient with a protracted history of osteomalacia. A review of the current literature is provided with emphasis on the clinical and histologic features, etiopathogenesis, and management of PMTMCT in the setting of TIO.

Phosphaturic mesenchymal tumor, mixed connective tissue variant, of the mandible: Report of a case and review of the literature

PubMed Central

Woo, Victoria L.; Landesberg, Regina; Imel, Erik A.; Singer, Steven R.; Folpe, Andrew L.; Econs, Michael J.; Kim, Taeyun; Harik, Lara R.; Jacobs, Thomas P.

2009-01-01

Tumor-induced osteomalacia (TIO) is a rare paraneoplastic syndrome that results in renal phosphate wasting with hypophosphatemia. In most cases, the underlying cause of TIO is a small mesenchymal neoplasm that is often difficult to detect, resulting in delayed diagnosis. One such neoplasm is the phosphaturic mesenchymal tumor, mixed connective tissue variant (PMTMCT), an unusual entity with unique morphologic and biochemical features. The majority of these tumors are found at appendicular sites with only rare cases reported in the jaws. We describe a PMTMCT involving the mandible in a patient with a protracted history of osteomalacia. A review of the current literature is provided with emphasis on the clinical and histologic features, etiopathogenesis, and management of PMTMCT in the setting of TIO. PMID:19828339

Multimodal molecular analysis of astroblastoma enables reclassification of most cases into more specific molecular entities.

PubMed

Wood, Matthew D; Tihan, Tarik; Perry, Arie; Chacko, Geeta; Turner, Clinton; Pu, Cunfeng; Payne, Christopher; Yu, Alexander; Bannykh, Serguei I; Solomon, David A

2018-03-01

Astroblastoma is a rare and controversial glioma with variable clinical behavior. The diagnosis currently rests on histologic findings of a circumscribed glioma with astroblastomatous pseudorosettes and vascular hyalinization. Immunohistochemical studies have suggested different oncogenic drivers, such as BRAF p.V600E, but very few cases have been studied using genome-wide methodologies. Recent genomic profiling identified a subset of CNS embryonal tumors with astroblastoma-like morphology that harbored MN1 gene fusions, termed "CNS high-grade neuroepithelial tumors with MN1 alteration" (CNS-HGNET-MN1). To further characterize the genetic alterations that drive astroblastomas, we performed targeted next-generation sequencing (NGS) of 500 cancer-associated genes in a series of eight cases. We correlated these findings with break-apart fluorescence in situ hybridization (FISH) analysis of the MN1 locus and genome-wide DNA methylation profiling. Four cases showed MN1 alteration by FISH, including two pediatric cases that lacked other pathogenic alterations, and two adult cases that harbored other cancer-associated gene mutations or copy number alterations (eg, CDKN2A/B homozygous deletion, TP53, ATM and TERT promoter mutations). Three of these cases grouped with the CNS-HGNET-MN1 entity by methylation profiling. Two of four MN1 intact cases by FISH showed genetic features of either anaplastic pleomorphic xanthoastrocytoma (BRAF p.V600E mutation, CDKN2A/B homozygous deletion and TERT promoter mutation) or IDH-wildtype glioblastoma (trisomy 7, monosomy 10, CDK4 amplification and TP53, NRAS and TERT promoter mutations) and these cases had an aggressive clinical course. Two clinically indolent cases remained unclassifiable despite multimodal molecular analysis. We conclude that astroblastoma histology is not specific for any entity including CNS-HGNET-MN1, and that additional genetic characterization should be considered for astroblastomas, as a number of these tumors

Simultaneous or Early Sequential Rupture of Multiple Intracranial Aneurysms: A Rare and Insufficiently Understood Entity.

PubMed

Hou, Kun; Zhao, Jinchuan; Zhang, Yang; Zhu, Xiaobo; Zhao, Yan; Li, Guichen

2016-05-01

Simultaneous or early sequential rupture of multiple intracranial aneurysms (MIAs) is encountered rarely, with no more than 10 cases having been reported. As a result of its rarity, there are a lot of questions concerning this entity need to be answered. A 67-year-old woman was admitted to the First Hospital of Jilin University (Eastern Division) from a local hospital after a sudden onset of severe headache, nausea, and vomiting. Head computed tomography (CT) at the local hospital revealed diffuse subarachnoid hemorrhage (SAH) that was concentrated predominately in the suprasellar cistern and interhemispheric fissure. During her transfer to our hospital, she experienced another episode of sudden headache. CT on admission to our hospital revealed that the SAH was increased with 2 isolated hematomas both in the interhemispheric fissure and the left paramedian frontal lobe. Further CT angiography and intraoperative findings were in favor of early sequential rupture of 2 intracranial aneurysms. To further elucidate the characteristics, mechanism, management, and prognosis of this specific entity, we conducted a comprehensive review of the literature. The mechanism of simultaneous or early sequential rupture of MIAs is still obscure. Transient elevation of blood pressure might play a role in the process, and preventing the sudden elevation of blood pressure might be beneficial for patients with aneurysmal SAH and MIAs. The management of simultaneously or early sequentially ruptured aneurysms is more complex for its difficulty in responsible aneurysm determination, urgency in treatment, toughness in intraoperative manipulation and poorness in prognosis. Copyright © 2016 Elsevier Inc. All rights reserved.

Angiomyolipoma of the Liver: A Rare Benign Tumor Treated with a Laparoscopic Approach for the First Time.

PubMed Central

DAMASKOS, CHRISTOS; GARMPIS, NIKOLAOS; ANNA, GARMPI; NONNI, AFRODITI; SAKELLARIOU, STRATIGOULA; MARGONIS, GEORGIOS-ANTONIOS; SPARTALIS, ELEFTHERIOS; SCHIZAS, DIMITRIOS; ANDREATOS, NIKOLAOS; MAGKOUTI, ELENI; GRIVAS, ALEXANDROS; KONTZOGLOU, KONSTANTINOS; ANTONIOU, A. EFSTATHIOS

2017-01-01

Background/Aim: Epithelioid angiomyolipoma of the liver is a rare benign mesenchymal tumor that usually presents in adult female patients. It most frequently occurs in the kidney, with the liver being the second most common site of involvement. Angiomyolipoma belongs to a family of tumors arising from perivascular epithelioid cells but in rare cases may also have cystic features. We report our experience via the first case of hepatic angiomyolipoma treated by laparoscopic approach. Patients and Methods: We present the case of a 50-year old female patient complaining of abdominal pain. Abdominal ultrasound (US) and Magnetic Resonance Imaging (MRI) revealed a 5x3cm mass located in the left liver lobe. The tumor was resected with a laparoscopic approach. Microscopic examination of the tumor revealed hepatic angiomyolipoma. Results: Twenty-seven months postoperatively, the patient remains fit and healthy. Conclusion: Angiomyolipoma can be removed by laparoscopy. PMID:29102941

Periductal Stromal Tumor of the Breast: A Case Report and Review of the Literature

PubMed Central

Askan, Gökçe; Arıbal, Erkin; Ak, Gamze; Kaya, Handan

2016-01-01

We present a woman aged 50 years who underwent a Tru-cut biopsy for a BI-RADS 4 lesion on her right breast and received a histopathology diagnosis of a fibroadenoma. In her one year follow-up, the lesion had progressed and she underwent an excisional biopsy. Her final diagnosis was a periductal stromal tumor. Periductal stromal tumor is an extremely rare and different entity from phylloides tumor, which makes appropriate diagnosis difficult in Tru-cut biopsy and care should be taken. Lesion progression of should require a re-biopsy. Their tendency to recur warrants follow-up. We believe that radiologic, pathologic, and clinical correlation is key in decision-making and diagnosis of these tumors. PMID:28331749

Multiple intraosseous inflammatory myofibroblastic tumors presenting with an aggressive clinical course: case report.

PubMed

Sasagawa, Yasuo; Akai, Takuya; Itou, Shoutarou; Iizuka, Hideaki

2011-10-01

The authors report a rare case of multiple intraosseous inflammatory myofibroblastic tumors presenting with an aggressive clinical course. A 60-year-old man presented with a 3-month history of headache and 2 weeks of jaw pain. Magnetic resonance imaging showed a homogeneously enhancing mass in the right parietal bone with subcutaneous and intracranial invasion. Bone scintigraphy revealed 4 intraosseous lesions involving the cranium, mandible, ischium, and calcaneum. After admission, the patient showed left hemiparesis and seizures caused by rapid intracranial tumor extension. The cranial and mandible tumors were resected. Histopathological examinations of both specimens revealed myofibroblastic spindle cell proliferation with inflammatory cell infiltration, and a diagnosis of inflammatory myofibroblastic tumor was made. Two days postoperatively, the patient presented with a high fever and disturbance of consciousness with swelling of the subcutaneous tissues of the head and mandibular lesions. Magnetic resonance imaging revealed a massive intracranial extension of the tumor. Corticosteroid therapy induced remarkable shrinkage of all lesions, and relief from symptoms was obtained. Radiotherapy was then performed for residual tumors. Multiple intraosseous inflammatory myofibroblastic tumors of the bone are very uncommon and may mimic malignant tumors. It is important to recognize that this entity can occur in the cranium and as multiple bony lesions. The recommended treatment is complete surgical resection with adjuvant steroid treatment. Considering the aggressive nature of this entity, additional chemo- and/or radiotherapy may be warranted.

Single-Cell, Multiplexed Protein Detection of Rare Tumor Cells Based on a Beads-on-Barcode Antibody Microarray.

PubMed

Yang, Liu; Wang, Zhihua; Deng, Yuliang; Li, Yan; Wei, Wei; Shi, Qihui

2016-11-15

Circulating tumor cells (CTCs) shed from tumor sites and represent the molecular characteristics of the tumor. Besides genetic and transcriptional characterization, it is important to profile a panel of proteins with single-cell precision for resolving CTCs' phenotype, organ-of-origin, and drug targets. We describe a new technology that enables profiling multiple protein markers of extraordinarily rare tumor cells at the single-cell level. This technology integrates a microchip consisting of 15000 60 pL-sized microwells and a novel beads-on-barcode antibody microarray (BOBarray). The BOBarray allows for multiplexed protein detection by assigning two independent identifiers (bead size and fluorescent color) of the beads to each protein. Four bead sizes (1.75, 3, 4.5, and 6 μm) and three colors (blue, green, and yellow) are utilized to encode up to 12 different proteins. The miniaturized BOBarray can fit an array of 60 pL-sized microwells that isolate single cells for cell lysis and the subsequent detection of protein markers. An enclosed 60 pL-sized microchamber defines a high concentration of proteins released from lysed single cells, leading to single-cell resolution of protein detection. The protein markers assayed in this study include organ-specific markers and drug targets that help to characterize the organ-of-origin and drug targets of isolated rare tumor cells from blood samples. This new approach enables handling a very small number of cells and achieves single-cell, multiplexed protein detection without loss of rare but clinically important tumor cells.

[Giant-cell tumor of the patella with lung metastases: a case report].

PubMed

Bahri, I; Ben Yahia, N; Boudawara, T; Makni, S; Fakhfakh, B; Kechaou, S; Keskes, H; Jlidi, R

2003-06-01

Giant-cell tumors are an infrequent clinical, radiological, and pathological entity observed in 5% of primary bone tumors. They generally occur at the epiphysis of long bones, particularly in the knee area but patellar localization seems very rare. Despite their perfectly benign histological aspect, giant-cell tumors may be aggressive, leading to local recurrence or even distant metastasis to the lung. We report a case of benign giant-cell tumor of the patella with lung metastasis observed in a 23-year-old woman. The aggressive radiological image was suggestive of chondrosarcoma. Histologically the differential diagnosis with chondroblastoma was difficult. The tumor and lung metastasis were treated by surgical resection. Four years later there has been no recurrence. We present the anatomic and clinical aspects of giant-cell tumor of the bone together with the diagnostic approach and the clinical course.

Post-traumatic cervical pneumorrhachis--a rare entity.

PubMed

Gill, Maneet; Sreenivas, Mukkamala; Beniwal, Rajveer Singh

2011-02-01

Pneumorrhachis(PR) is a rare phenomenon and post traumatic PR even more so. Presentation can vary from asymptomatic to significant neurological deficit and so the management has to be individualised. We present a case of post-traumatic cervical PR.

Angiomyolipoma of the Liver: A Rare Benign Tumor Treated with a Laparoscopic Approach for the First Time.

PubMed

Damaskos, Christos; Garmpis, Nikolaos; Garmpi, Anna; Nonni, Afroditi; Sakellariou, Stratigoula; Margonis, Georgios-Antonios; Spartalis, Eleftherios; Schizas, Dimitrios; Andreatos, Nikolaos; Magkouti, Eleni; Grivas, Alexandros; Kontzoglou, Konstantinos; Weiss, Matthew J; Antoniou, Efstathios A

2017-01-01

Epithelioid angiomyolipoma of the liver is a rare benign mesenchymal tumor that usually presents in adult female patients. It most frequently occurs in the kidney, with the liver being the second most common site of involvement. Angiomyolipoma belongs to a family of tumors arising from perivascular epithelioid cells, but in rare cases may also have cystic features. We report our experience via the first case of hepatic angiomyolipoma treated by laparoscopic approach. We present the case of a 50-year-old female patient complaining of abdominal pain. Abdominal ultrasound (US) and Magnetic Resonance Imaging (MRI) revealed a 5 × 3 cm mass located in the left liver lobe. The tumor was resected with a laparoscopic approach. Microscopic examination of the tumor revealed hepatic angiomyolipoma. Twenty-seven months postoperatively, the patient remains fit and healthy. Angiomyolipoma can be removed by laparoscopy. Copyright© 2017, International Institute of Anticancer Research (Dr. George J. Delinasios), All rights reserved.

Dissecting disease entities out of the broad spectrum of bipolar-disorders.

PubMed

Levine, Joseph; Toker, Lilach; Agam, Galila

2018-01-01

The etiopathology of bipolar disorders is yet unraveled and new avenues should be pursued. One such avenue may be based on the assumption that the bipolar broad spectrum includes, among others, an array of rare medical disease entities. Towards this aim we propose a dissecting approach based on a search for rare medical diseases with known etiopathology which also exhibit bipolar disorders symptomatology. We further suggest that the etiopathologic mechanisms underlying such rare medical diseases may also underlie a rare variant of bipolar disorder. Such an assumption may be further reinforced if both the rare medical disease and its bipolar clinical phenotype demonstrate a] a similar mode of inheritance (i.e, autosomal dominant); b] brain involvement; and c] data implicating that the etiopathological mechanisms underlying the rare diseases affect biological processes reported to be associated with bipolar disorders and their treatment. We exemplify our suggested approach by a rare case of autosomal dominant leucodystrophy, a disease entity exhibiting nuclear lamin B1 pathology also presenting bipolar symptomatology. Copyright © 2017 Elsevier B.V. All rights reserved.

Astroblastoma: a distinct tumor entity characterized by alterations of the X chromosome and MN1 rearrangement.

PubMed

Hirose, Takanori; Nobusawa, Sumihito; Sugiyama, Kazuhiko; Amatya, Vishwa J; Fujimoto, Naomi; Sasaki, Atsushi; Mikami, Yoshiki; Kakita, Akiyoshi; Tanaka, Shinya; Yokoo, Hideaki

2017-10-09

Astroblastoma is a rare, enigmatic tumor of the central nervous system (CNS) which shares some clinicopathologic aspects with other CNS tumors, especially ependymoma. To further clarify the nature of astroblastoma, we performed clinicopathologic and molecular genetic studies on eight cases of astroblastoma. The median age of the patients was 14.5 years, ranging from 5 to 60 years, and seven of the patients were female. All tumors arose in the cerebral hemisphere and radiologically appeared to be well-bordered, nodular tumors often associated with cystic areas and contrast-enhancement. Six of the seven patients with prognosis data survived without recurrences during the follow-up periods ranging from six to 76 months. One patient had multiple recurrences and died six years later. All tumors exhibited salient microscopic features, such as being well demarcated from the surrounding brain tissue, perivascular arrangement of epithelioid tumor cells (represented by "astroblastic" pseudorosettes, trabecular alignment, and pseudopapillary patterns), and hyalinized blood vessels. Immunoreactivity for GFAP, S-100 protein, Olig2, and EMA was variably demonstrated in all tumors, and IDH1 R132H and L1CAM were negative. Array comparative genomic hybridization revealed numerous heterozygous deletions on chromosome X in the four tumors studied, and break-apart fluorescence in situ hybridization demonstrated rearrangement of MN1 in five tumors with successful testing. The characteristic clinicopathologic and genetic findings support the idea that astroblastoma is distinct from other CNS tumors, in particular, ependymoma. In addition, MN1 rearrangement and aberrations of chromosome X may partly be involved in the pathogenesis of astroblastoma. © 2017 International Society of Neuropathology.

Mycobacterium tuberculosis infection within parotid gland Warthin tumor.

PubMed

Ozcan, Cengiz; Apa, Duygu Düşmez; Aslan, Gönül; Gülhan, Stk; Görür, Kemal

2008-11-01

Tuberculosis of the parotid gland is extremely unusual. Tuberculosis comprises 2.5% to 10% of parotid gland lesions. Two clinical forms of parotid gland tuberculosis infection exist. One is a diffuse parenchymatous disease (either primary or secondary to nodal disease), resembling common infection. The second is a chronic, slow-growing, painless, and firm parotid mass mimicking a neoplasm. Most of these patients were diagnosed after parotid gland surgery and histopathologic evaluation. Warthin tumor is a well-known benign neoplasm of the salivary glands. It is the second most common tumor of the parotid gland. Mycobacterium tuberculosis within Warthin tumor is also unusual. Five cases with parotid gland tuberculosis within Warthin tumor were reported in the literature. In this report, we present a new patient with parotid gland tuberculosis within the Warthin tumor. This type parotid gland pathology is an extremely rare entity, and to the best of our knowledge, this is the second documented case using polymerase chain reaction. We also discussed the possible mechanisms of development of infection within Warthin tumor.

Clinical trial will investigate targeted radionuclide therapy for inoperable rare tumors | Center for Cancer Research

Cancer.gov

In an upcoming phase II clinical trial, Center for Cancer Research investigators will explore the ability of a targeted radioactive drug to treat inoperable pheochromocytoma and paraganglioma, both rare tumors.  Learn more...

Cancerous tumor: the high frequency of a rare event.

PubMed

Galam, S; Radomski, J P

2001-05-01

A simple model for cancer growth is presented using cellular automata. Cells diffuse randomly on a two-dimensional square lattice. Individual cells can turn cancerous at a very low rate. During each diffusive step, local fights may occur between healthy and cancerous cells. Associated outcomes depend on some biased local rules, which are independent of the overall cancerous cell density. The models unique ingredients are the frequency of local fights and the bias amplitude. While each isolated cancerous cell is eventually destroyed, an initial two-cell tumor cluster is found to have a nonzero probabilty to spread over the whole system. The associated phase diagram for survival or death is obtained as a function of both the rate of fight and the bias distribution. Within the model, although the occurrence of a killing cluster is a very rare event, it turns out to happen almost systematically over long periods of time, e.g., on the order of an adults life span. Thus, after some age, survival from tumorous cancer becomes random.

Oncodomains: A protein domain-centric framework for analyzing rare variants in tumor samples

PubMed Central

Peterson, Thomas A.; Park, Junyong

2017-01-01

The fight against cancer is hindered by its highly heterogeneous nature. Genome-wide sequencing studies have shown that individual malignancies contain many mutations that range from those commonly found in tumor genomes to rare somatic variants present only in a small fraction of lesions. Such rare somatic variants dominate the landscape of genomic mutations in cancer, yet efforts to correlate somatic mutations found in one or few individuals with functional roles have been largely unsuccessful. Traditional methods for identifying somatic variants that drive cancer are ‘gene-centric’ in that they consider only somatic variants within a particular gene and make no comparison to other similar genes in the same family that may play a similar role in cancer. In this work, we present oncodomain hotspots, a new ‘domain-centric’ method for identifying clusters of somatic mutations across entire gene families using protein domain models. Our analysis confirms that our approach creates a framework for leveraging structural and functional information encapsulated by protein domains into the analysis of somatic variants in cancer, enabling the assessment of even rare somatic variants by comparison to similar genes. Our results reveal a vast landscape of somatic variants that act at the level of domain families altering pathways known to be involved with cancer such as protein phosphorylation, signaling, gene regulation, and cell metabolism. Due to oncodomain hotspots’ unique ability to assess rare variants, we expect our method to become an important tool for the analysis of sequenced tumor genomes, complementing existing methods. PMID:28426665

Aripiprazole-induced transient myopia: A rare entity.

PubMed

Praveen Kumar, K V; Chiranjeevi, P; Alam, Md Shahid

2018-01-01

Aripiprazole is a new drug for the treatment of adults with schizophrenia. Ocular side effects of aripiprazole are very rare. Review of literature revealed few cases of aripiprazole-induced myopia. We report a rare case of aripiprazole-induced transient myopia. A 22-year-old female patient presented to the department of psychiatry with worsening of symptoms of schizophrenia and was started on aripiprazole. She presented with complaints of blurring of vision in both eyes for 1 week which started on the 3rd day following the use of aripiprazole. Anterior segment examination revealed a shallow anterior chamber and narrow angles. Intraocular pressure was normal. A diagnosis of aripiprazole-induced acute myopia was made and the treating psychiatrist was advised to stop the medication. At 2-week follow-up, the unaided visual acuity improved to 20/20 in both the eyes. Ophthalmologists should be aware of the myopic shift that may occur as an ocular side effect with aripiprazole.

Preoperative Embolization of a Tumor-Bearing Horseshoe Kidney Via Both Channels of a Concomitant Aortic Dissection

DOE Office of Scientific and Technical Information (OSTI.GOV)

Palmowski, Moritz; Kiessling, Fabian; Lopez-Benitez, Ruben

2007-06-15

Renal cell carcinoma arising in a horseshoe kidney is a rare entity. Preoperative tumor embolization can be performed to prevent massive bleeding complications during organ-preserving surgery. We report the first case of a patient with a tumor-bearing horseshoe-kidney in whom the preoperative embolization, already complex because of the abnormal vascular supply, was additionally complicated by an aortic dissection. An aberrant, horseshoe-kidney-supplying artery originated from the false dissection channel of the aorta, and thus had to be catheterized separately while the other tumor-supplying vessels could be reached via the true aortic lumen. After devascularization of the tumor, organ-preserving surgery was performedmore » without bleeding complications.« less

Aggressive Renal Angiomyolipoma in a Patient with Tuberous Sclerosis Resulting in Pulmonary Tumor Embolus and Pulmonary Infarction.

PubMed

Mettler, John; Al-Katib, Sayf

2018-06-07

Renal angiomyolipoma (AML) is the most commonly encountered mesenchymal tumor of the kidney which can present spontaneously or in association with tuberous sclerosis complex. Rarely, renal AMLs may demonstrate aggressive features such as renal vein invasion. This common entity and its uncommon complications are diagnosed based on physical examination and computed tomography results. Here we report imaging findings of a renal AML with renal vein and inferior vena cava invasion resulting in pulmonary tumor embolus and pulmonary infarction. Copyright © 2018. Published by Elsevier Inc.

Multiple Ewing Sarcoma/Primitive Neuroectodermal Tumors in the Mediastinum: A Case Report and Literature Review.

PubMed

Bae, Sung Hwan; Hwang, Jung Hwa; Da Nam, Bo; Kim, Hyun Jo; Kim, Ki-Up; Kim, Dong Won; Choi, In Ho

2016-02-01

Ewing sarcoma/primitive neuroectodermal tumors (ES/PNET) are high-grade malignant neoplasms. These malignancies present very rare tumors of thoracopulmonary area and even rarer in the mediastinum. In our knowledge, ES/PNET presented with multiple mediastinal masses has not been reported previously. We experienced a case of a 42-year-old man presented with gradual onset of left-side pleuritic chest pain. A contrast-enhanced chest computed tomography (CT) scan showed separate 2 large heterogeneously enhancing masses in each anterior and middle mediastinum of the left hemithorax. Positron emission tomography-computed tomography (PET-CT) scan revealed high fluorodeoxyglucose (FDG) uptake in the mediastinal masses. After surgical excision for the mediastinal masses, both of the masses were diagnosed as the ES/PNET group of tumors on the histopathologic examination. The patient refused postoperative adjuvant chemotherapy and came back with local tumor recurrence and distant metastasis on 4-month follow-up after surgical resection. We report this uncommon form of ES/PNET. We are to raise awareness that this rare malignancy should be considered as a differential diagnosis of the malignant mediastinal tumors and which can be manifested as multiple masses in a patient. Understanding this rare entity of extra-skeletal ES/PNET and characteristic imaging findings can help radiologists and clinicians to approach proper diagnosis and better management for this highly malignant tumor.

Unusual cardiac paraganglioma mimicking an atypical carcinoid tumor of the lung

PubMed Central

Evans, Mark; Wang, Beverly; Delrosario, J. Lawrence; Cheng, Timmy; Milliken, Jeffrey

2018-01-01

We present a case of unusual cardiac paraganglioma (PG) initially misdiagnosed as atypical carcinoid tumor of the lung and discuss key clinical and pathologic characteristics that guide surgical management of these rare chromaffin cell tumors. A 64-year-old female with persistent cough and back pain was found to have a 4 cm × 3 cm mass abutting multiple cardiopulmonary structures. A biopsy was performed at an outside institution and pathology reported “atypical neuroendocrine carcinoma, consistent with carcinoid”. The patient was transferred to our institution and pericardial resection with right pneumonectomy was performed to excise the tumor. Histology of the mass was that of PG with multiple ethanol embolizations. Immunohistochemical examination revealed that type I (chief) cells were positive for neuroendocrine markers (chromogranin A and synaptophysin), while type II (sustentacular) cells were positive for S100. There was no evidence of atypical carcinoid tumor in the lung. PG is an entity of chromaffin cell tumors that often affects the adrenal glands and carotid body. PG rarely occurs in the thoracic region, accounting for just 1–2% of all PG. Proper diagnosis of cardiac PG is challenging owing to its rare prevalence, subtle symptoms of presentation, and the neuroendocrine histopathological features it shares with atypical carcinoids. These tumors are typically benign and are best treated by surgical resection. Our report examines the approach to appropriate diagnosis of cardiac PG vs. atypical carcinoid, preoperative management, and surgical treatment by describing successful resection through thoracotomy without the use of cardiopulmonary bypass. PMID:29600100

Pediatric Type Follicular Lymphoma: A Rare Entity with Excellent Prognosis

DTIC Science & Technology

2018-01-19

lymphomas, has a median age range of 7.5-11.7, and has a male- female ratio of 4:1. This entity occurs most frequently in the tonsils and head and... neck lymph nodes. The pathogenesis of follicular lymphoma in adults is based upon immunoglobulin gene rearrangements with BCL2, BCL6, and MYC

Jadassohn Lewandowsky Syndrome: A Rare Entity

PubMed Central

Prasad, Anupama Manohar; Inakanti, Yugandar; Kumar, Shiva

2015-01-01

Pachyonychia congenita (PC) is a rare autosomal dominant genodermatosis characterized by hyperkeratosis affecting the nails and palmoplantar areas, oral leucokeratosis, and cystic lesions. It is classically subdivided into two major variants, PC-1 (Jadassohn–Lewandowski syndrome) and PC-2 (Jackson-Lawler syndrome), according to the localization of the mutations in the KRT6A/KRT16 or KRT6B/KRT17 genes, respectively. We report a 9-year-old male patient with a history of thickened, discolored nails, raised spiny skin lesions all over the body since birth with focal plantar keratoderma and absence of natal teeth. PMID:26538744

Cocoon formation in patients with midgut neuroendocrine tumors: a rare and unrecognized final pathway.

PubMed

Wang, Yi-Zarn; King, Heather; Diebold, Anne

2013-08-01

Neuroendocrine tumors (NETs) are relatively rare with an indolent nature. As a result, treatment is often delayed and passive. The most commonly recognized disease progression leading to death is from the sequelae of bowel obstruction, ischemia, or liver failure secondary to liver metastasis. We recently recognized a rare cocoon-like formation in patients with metastatic gastroenteropancreatic NETs and hypothesize that this may be a distinct, final pathway for these patients. Ten patients with stage IV gastroenteropancreatic NETs, seen at our center between October 2008 and November 2011, who developed a cocoon were identified. Patient's charts, operative reports, pathology, and tumor markers were reviewed. No discernable predictors were identified as precursors to this condition. One patient survived 13 months after cocoon diagnosis, and the remaining 9 patients were all deceased within 5 months. Surgical treatment was attempted in 6 patients and was only partially successful in 1 patient who had the earliest stage of cocoon formation (type 1). Cocoon-like formations in patients with stage IV gastroenteropancreatic NETs is rare and may be a terminal disease progression that has not been previously recognized. The best treatment option remains unknown. Surgical treatment is not advisable, with the exception of type 1 abdominal cocoons.

A Survey of Mesenchyme-related Tumors of the Rat Kidney in the National Toxicology Program Archives, with Particular Reference to Renal Mesenchymal Tumor.

PubMed

Hard, Gordon C; Seely, John Curtis; Betz, Laura J

2016-08-01

In order to harmonize diagnostic terminology, confirm diagnostic criteria, and describe aspects of tumor biology characteristic of different tumor types, a total of 165 cases of mesenchyme-related tumors and nephroblastomas of the rat kidney were reexamined from the National Toxicology Program (NTP) Archives. This survey demonstrated that renal mesenchymal tumor (RMT) was the most common spontaneous nonepithelial tumor in the rat kidney, also occurring more frequently in the NTP studies than nephroblastoma. Renal sarcoma was a distinct but very rare tumor entity, representing a malignant, monomorphous population of densely crowded, fibroblast-like cells, in which, unlike RMT, preexisting tubules did not persist. Nephroblastoma was characterized by early death of affected animals, suggesting an embryonal origin for this tumor type. Male and female rats were equally disposed to developing RMT, but most of the cases of nephroblastoma occurred in female rats and liposarcoma occurred mostly in male rats. This survey confirmed discrete histopathological and biological differences between the mesenchyme-related renal tumor types and between RMT and nephroblastoma. Statistical analysis also demonstrated a lack of any relationship of these renal tumor types to test article administration in the NTP data bank. © 2016 by The Author(s) 2016.

Schwannoma-like tumor in the anterior cranial fossa immunonegative for Leu7 but immunopositive for Schwann/2E.

PubMed

Bohoun, Christian Aïssè; Terakawa, Yuzo; Goto, Takeo; Tanaka, Sayaka; Kuwae, Yuko; Ohsawa, Masahiko; Morisako, Hiroki; Nakajo, Kosuke; Sato, Hidetoshi; Ohata, Kenji; Yokoo, Hideaki

2017-06-01

Schwannoma arising from the olfactory system, often called olfactory groove schwannoma (OGS), is rare, as the olfactory bulb and tract, belonging to the central nervous system, should lack Schwann cells. Another rare entity called olfactory ensheathing cell tumor (OECT) has been reported, which mimics clinical and radiological characteristics of OGS. Here, we report two rare cases of schwannoma-like tumor in the anterior cranial fossa that showed negative staining for Leu7, but positive staining for Schwann/2E, and discuss their origin. Two cases of mass lesions in the anterior cranial fossa in a 26-year-old man and a 24-year-old woman were successfully removed. Morphological examination of these tumors was compatible with a diagnosis of schwannoma. Immunohistochemically, both cases were negative for Leu7, yielding a diagnosis of OECT, but were positive for the schwannoma-specific marker, Schwann/2E. Immunohistochemical staining results in our two cases question the current assumption that OGS and OECT can be distinguished only by Leu7 staining pattern. In conclusion, the origins of OGS and OECT remain to be determined, and further studies in larger numbers of cases are needed to characterize these rare tumors in the anterior cranial fossa. © 2016 Japanese Society of Neuropathology.

Occult Primary Neuroendocrine Tumor Metastasis to the Breast Detected on Screening Mammogram.

PubMed

Policeni, Fabiana; Pakalniskis, Brittany; Yang, Limin

2016-01-01

Metastatic tumors are rare in the breast. Well-differentiated neuroendocrine tumors (WDNETs) are slow-growing neoplasms that arise from neuroendocrine cells, particularly in the gastrointestinal tract and bronchial tree. Metastatic WDNET to the breast is a rare entity. We present a case report of ileal WDNET metastatic to the breast which was initially identified as a small mass in the patient's left breast on screening mammography. Targeted ultrasound identified a suspicious mass, and ultrasound-guided percutaneous core biopsy was performed. Pathology revealed metastatic WDNET. Breast magnetic resonance imaging (MRI) was then performed and demonstrated left axillary Level 2 lymphadenopathy, and liver lesions were suspicious for metastasis. The patient underwent abdominal computed tomography (CT) to evaluate for distant metastatic disease. A spiculated mass was found near the ileocecal valve, suggestive of primary ileal WDNET. In addition, CT identified multiple liver lesions, most compatible with metastasis. Indium 111 OctreoScan confirmed radiotracer uptake in the ileum consistent with primary neuroendocrine tumor. In this report, we review the imaging characteristics of metastatic WDNET to the breast by different imaging modalities including mammogram, ultrasound, and breast MRI.

Immunohistochemical expression of WT1 by desmoplastic small round cell tumor: a comparative study with other small round cell tumors.

PubMed

Barnoud, R; Sabourin, J C; Pasquier, D; Ranchère, D; Bailly, C; Terrier-Lacombe, M J; Pasquier, B

2000-06-01

Desmoplastic small round cell tumors (DSRCTs) present a reciprocal chromosomal translocation, t(11;22)(p13;q12), that results in fusion of Ewing's sarcoma and Wilms' tumor (WT1) genes. The authors evaluated 15 DSRCTs and 71 other tumors often considered in the differential diagnosis for immunoreactivity using a polyclonal antibody directed against the WT1 part of the chimeric protein resulting from this translocation. WT1 immunostaining was performed on paraffin material using the WT(C-19) antibody after heat-antigen retrieval. All the DSRCTs (15 of 15, 100%) demonstrated strong WT1 nuclear immunoreactivity. Ten of 14 nephroblastomas (71%) disclosed WT1-positive nuclei in accordance with the staining reported by others, and rare and focal nuclear positivity was detected in two of 17 rhabdomyosarcomas. WT1 immunoreactivity was not observed in Ewing's sarcoma/primitive neuroectodermal tumors (zero of 21, 0%), neuroblastomas (zero of 17, 0%), or rhabdoid tumors of the kidney (zero of two, 0%). In nephroblastoma, differential diagnosis with DSRCT was not difficult: Clinical and morphologic data are not similar for these two entities. The current study validates WT1 immunoreactivity as a useful marker to separate DSRCT from other small round cell tumors.

HGNET-BCOR Tumors of the Cerebellum: Clinicopathologic and Molecular Characterization of 3 Cases.

PubMed

Appay, Romain; Macagno, Nicolas; Padovani, Laetitia; Korshunov, Andrey; Kool, Marcel; André, Nicolas; Scavarda, Didier; Pietsch, Torsten; Figarella-Branger, Dominique

2017-09-01

The central nervous system (CNS) high-grade neuroepithelial tumor with BCOR alteration (CNS HGNET-BCOR) is a recently described molecular entity. We report 3 new CNS HGNET-BCOR cases sharing common clinical presentation and pathologic features. The 3 cases concerned children aged 3 to 7 years who presented with a voluminous mass of the cerebellum. Pathologic features included proliferation of uniform spindle to ovoid cells with fine chromatin associated with a rich arborizing capillary network. Methylation profiling classified these cases as CNS HGNET-BCOR tumors. Polymerase chain reaction analysis confirmed the presence of internal tandem duplications in the C-terminus of BCOR (BCOR-ITD), a characteristic of these tumors, in all 3 cases. Immunohistochemistry showed a strong nuclear BCOR expression. In 2 cases, local recurrence occurred within 6 months. The third case, a patient who received a craniospinal irradiation after total surgical removal followed by a metronomics maintenance with irinotecan, temozolomide, and itraconazole, is still free of disease 14 months after diagnosis. In summary, CNS HGNET-BCOR represents a rare tumor occurring in young patients with dismal prognosis. BCOR nuclear immunoreactivity is highly suggestive of a BCOR-ITD. Whether CNS HGNET-BCOR should be classified among the category of "embryonal tumors" or within the category of "mesenchymal, nonmeningothelial tumors" remains to be clarified. Because CNS HGNET-BCOR share pathologic features and characteristic BCOR-ITD with clear cell sarcoma of the kidney, these tumors may represent local variants of the same entity.

Malignant perivascular epithelioid cell tumor of the kidney with rare pulmonary and ileum metastases

PubMed Central

Shi, Huijuan; Cao, Qinghua; Li, Hui; Zhen, Tiantian; Lai, Yingrong; Han, Anjia

2014-01-01

Aims: To report one case of malignant perivascular epithelioid cell tumor (PEComa) of the kidney with rare pulmonary and ileum metastases and analyze its clinicopathological features. Methods: We analyzed the clinicopathological features of one case of malignant PEComa of the kidney with pulmonary and ileum metastases. Immunohistochemistry staining was performed. Results: The patient was a 48-year-old man with a renal mass approximately 14 cm × 11 cm × 8 cm in size. Microscopically, the tumor was mainly composed of polygonal epithelioid cells with dense eosinophilic cytoplasm and round nuclei with small nucleoli. Focal tumor cells showed pleomorphism with multinucleated giant cells and prominent nucleoli. The tumor cells nests were surrounded by thick-walled irregular blood vessels. Focal fat cells were found within the tumor. Hemorrhage and coagulative necrosis were also present. The tumor cells were positive for vimentin, HMB45, and Melan-A, and focally positive for SMA and S-100 protein. After 5 years and 5.6 years of nephrectomy, the tumor metastasized to the right lung and ileum, respectively. Conclusion: We first reported one case of malignant PEComa of the kidney with pulmonary and ileum metastases. Metastatic PEComa of the lung and ileum should differentiate from primary carcinoma, metastatic carcinoma, malignant melanoma, and gastrointestinal stromal tumor. PMID:25337291

Malignant perivascular epithelioid cell tumor of the kidney with rare pulmonary and ileum metastases.

PubMed

Shi, Huijuan; Cao, Qinghua; Li, Hui; Zhen, Tiantian; Lai, Yingrong; Han, Anjia

2014-01-01

To report one case of malignant perivascular epithelioid cell tumor (PEComa) of the kidney with rare pulmonary and ileum metastases and analyze its clinicopathological features. We analyzed the clinicopathological features of one case of malignant PEComa of the kidney with pulmonary and ileum metastases. Immunohistochemistry staining was performed. The patient was a 48-year-old man with a renal mass approximately 14 cm × 11 cm × 8 cm in size. Microscopically, the tumor was mainly composed of polygonal epithelioid cells with dense eosinophilic cytoplasm and round nuclei with small nucleoli. Focal tumor cells showed pleomorphism with multinucleated giant cells and prominent nucleoli. The tumor cells nests were surrounded by thick-walled irregular blood vessels. Focal fat cells were found within the tumor. Hemorrhage and coagulative necrosis were also present. The tumor cells were positive for vimentin, HMB45, and Melan-A, and focally positive for SMA and S-100 protein. After 5 years and 5.6 years of nephrectomy, the tumor metastasized to the right lung and ileum, respectively. We first reported one case of malignant PEComa of the kidney with pulmonary and ileum metastases. Metastatic PEComa of the lung and ileum should differentiate from primary carcinoma, metastatic carcinoma, malignant melanoma, and gastrointestinal stromal tumor.

Desmoid tumor of posterior cruciate ligament of the knee: a case report

PubMed Central

2013-01-01

Background Desmoid tumor is a rare type of cancer that develops in the tissues that form tendons and ligaments. These tumors, also called aggressive fibromatosis, are considered benign with no metastatic potential. They may invade nearby tissues and organs, however, and can be difficult to control. Desmoid tumor in the posterior cruciate ligament (PCL) of the knee has never been described in the literature. Case presentation A 49-year-old man presented with a 2-month history of posteromedial knee dull pain and decreased range of motion of the knee. He was diagnosed desmoid tumor of posterior cruciate ligament of the knee by intraoperative biopsy, and underwent successful PCL resection and reconstruction by Four-strand semitendinosus and gracilis tendon autograft arthroscopically, and fortunately five years after operation, there were no clues as to recurrence of the tumor examined by Magnetic Resonance Imaging (MRI). Conclusion Desmoid tumor is characterized by infiltrative growth and a tendency towards recurrence,as this tumor entity is rare, data giving evidence based recommendations for the optimal treatment algorithm for this disease is lacking. At present there is no definite and effective method of treatment. However, early detection of the tumor play an important role, MRI is now the most important method for the detection of tumor extent, which facilitates the treatment choice as well as the prediction of prognosis. In our case, we followed-up the patient five years postoperatively by MRI and got a good result. PMID:23432794

Hidradenocarcinoma: A Rare Sweat Gland Neoplasm Presenting as Small Turban Tumor of the Scalp.

PubMed

Asati, Dinesh P; Brahmachari, Swagata; Kudligi, Chandramohan; Gupta, Chandramohan

2015-01-01

Hidradenocarcinomas are very rare malignant sweat gland tumors that possess an infiltrative and/or low metastatic potential. Here we describe an interesting case of hidradenoma on the fronto-parietal region of the scalp of an elderly female, part of which had developed carcinomatous changes, infiltrating up to the pericranium. She developed intense itching, pain, spontaneous ulceration and rapid increase in the size of the tumor correlating with the expression of malignant behavior of the neoplasm. An initial incision biopsy suggested features of benign poroid hidradenoma, while the histology from the excised tumor exhibited a fairly well circumscribed epithelial neoplasm in dermis consisting of interconnected nodules as well as differentiated ducts, the neoplastic cells showing mild pleomorphism of nuclei, mitotic figures and abundant pale cytoplasm. Clefts, sclerotic stroma and foci of necrosis en mass were also seen. The final diagnosis was a well differentiated and slow growing hidradenocarcinoma. The tumor recurred locally despite total excision.

Hidradenocarcinoma: A Rare Sweat Gland Neoplasm Presenting as Small Turban Tumor of the Scalp

PubMed Central

Asati, Dinesh P; Brahmachari, Swagata; Kudligi, Chandramohan; Gupta, Chandramohan

2015-01-01

Hidradenocarcinomas are very rare malignant sweat gland tumors that possess an infiltrative and/or low metastatic potential. Here we describe an interesting case of hidradenoma on the fronto-parietal region of the scalp of an elderly female, part of which had developed carcinomatous changes, infiltrating up to the pericranium. She developed intense itching, pain, spontaneous ulceration and rapid increase in the size of the tumor correlating with the expression of malignant behavior of the neoplasm. An initial incision biopsy suggested features of benign poroid hidradenoma, while the histology from the excised tumor exhibited a fairly well circumscribed epithelial neoplasm in dermis consisting of interconnected nodules as well as differentiated ducts, the neoplastic cells showing mild pleomorphism of nuclei, mitotic figures and abundant pale cytoplasm. Clefts, sclerotic stroma and foci of necrosis en mass were also seen. The final diagnosis was a well differentiated and slow growing hidradenocarcinoma. The tumor recurred locally despite total excision. PMID:26288440

Improving recognition of hepatic perivascular epithelioid cell tumor: Case report and literature review.

PubMed

Maebayashi, Toshiya; Abe, Katsumi; Aizawa, Takuya; Sakaguchi, Masakuni; Ishibashi, Naoya; Abe, Osamu; Takayama, Tadatoshi; Nakayama, Hisashi; Matsuoka, Shunichi; Nirei, Kazushige; Nakamura, Hitomi; Ogawa, Masahiro; Sugitani, Masahiko

2015-05-07

A 58-year-old man presented with the chief complaint of abdominal bloating and was incidentally found to have a liver tumor. As diagnostic imaging studies could not rule out malignancy, the patient underwent partial resection of segment 3 of the liver. The lesion pathologically showed eosinophilic proliferation, in addition to immunohistochemical positivity for human melanoma black 45 and Melan-A, thereby leading to the diagnosis of a hepatic perivascular epithelioid cell tumor (PEComa). A PEComa arising from the liver is relatively rare. Moreover, the name 'PEComa' has not yet been widely recognized, and the same disease entity has been called epithelioid angiomyolipoma (EAML), further diminishing the recognition of PEComa. In addition, PEComa imaging findings mimic those of malignant liver tumors, and clinically, this tumor tends to enlarge. Therefore, a PEComa is difficult to diagnose. We conducted a systematic review of PEComa and EAML cases and discuss the results, including findings useful for differentiating perivascular epithelioid cell tumors from malignant liver tumors.

Improving recognition of hepatic perivascular epithelioid cell tumor: Case report and literature review

PubMed Central

Maebayashi, Toshiya; Abe, Katsumi; Aizawa, Takuya; Sakaguchi, Masakuni; Ishibashi, Naoya; Abe, Osamu; Takayama, Tadatoshi; Nakayama, Hisashi; Matsuoka, Shunichi; Nirei, Kazushige; Nakamura, Hitomi; Ogawa, Masahiro; Sugitani, Masahiko

2015-01-01

A 58-year-old man presented with the chief complaint of abdominal bloating and was incidentally found to have a liver tumor. As diagnostic imaging studies could not rule out malignancy, the patient underwent partial resection of segment 3 of the liver. The lesion pathologically showed eosinophilic proliferation, in addition to immunohistochemical positivity for human melanoma black 45 and Melan-A, thereby leading to the diagnosis of a hepatic perivascular epithelioid cell tumor (PEComa). A PEComa arising from the liver is relatively rare. Moreover, the name ‘PEComa’ has not yet been widely recognized, and the same disease entity has been called epithelioid angiomyolipoma (EAML), further diminishing the recognition of PEComa. In addition, PEComa imaging findings mimic those of malignant liver tumors, and clinically, this tumor tends to enlarge. Therefore, a PEComa is difficult to diagnose. We conducted a systematic review of PEComa and EAML cases and discuss the results, including findings useful for differentiating perivascular epithelioid cell tumors from malignant liver tumors. PMID:25954119

The Children's Hepatic tumors International Collaboration (CHIC): Novel global rare tumor database yields new prognostic factors in hepatoblastoma and becomes a research model

PubMed Central

Czauderna, Piotr; Haeberle, Beate; Hiyama, Eiso; Rangaswami, Arun; Krailo, Mark; Maibach, Rudolf; Rinaldi, Eugenia; Feng, Yurong; Aronson, Daniel; Malogolowkin, Marcio; Yoshimura, Kenichi; Leuschner, Ivo; Lopez-Terrada, Dolores; Hishiki, Tomoro; Perilongo, Giorgio; von Schweinitz, Dietrich; Schmid, Irene; Watanabe, Kenichiro; Derosa, Marisa; Meyers, Rebecka

2016-01-01

Introduction Contemporary state-of-the-art management of cancer is increasingly defined by individualized treatment strategies. For very rare tumors, like hepatoblastoma, the development of biologic markers, and the identification of reliable prognostic risk factors for tailoring treatment, remains very challenging. The Children's Hepatic tumors International Collaboration (CHIC) is a novel international response to this challenge. Methods Four multicenter trial groups in the world, who have performed prospective controlled studies of hepatoblastoma over the past two decades (COG; SIOPEL; GPOH; and JPLT), joined forces to form the CHIC consortium. With the support of the data management group CINECA, CHIC developed a centralized online platform where data from eight completed hepatoblastoma trials were merged to form a database of 1605 hepatoblastoma cases treated between 1988 and 2008. The resulting dataset is described and the relationships between selected patient and tumor characteristics, and risk for adverse disease outcome (event-free survival; EFS) are examined. Results Significantly increased risk for EFS-event was noted for advanced PRETEXT group, macrovascular venous or portal involvement, contiguous extrahepatic disease, primary tumor multifocality and tumor rupture at enrollment. Higher age (≥8 years), low AFP (<100 ng/ml) and metastatic disease were associated with the worst outcome. Conclusion We have identified novel prognostic factors for hepatoblastoma, as well as confirmed established factors, that will be used to develop a future common global risk stratification system. The mechanics of developing the globally accessible web-based portal, building and refining the database, and performing this first statistical analysis has laid the foundation for future collaborative efforts. This is an important step for refining of the risk based grouping and approach to future treatment stratification, thus we think our collaboration offers a template for

The Children's Hepatic tumors International Collaboration (CHIC): Novel global rare tumor database yields new prognostic factors in hepatoblastoma and becomes a research model.

PubMed

Czauderna, Piotr; Haeberle, Beate; Hiyama, Eiso; Rangaswami, Arun; Krailo, Mark; Maibach, Rudolf; Rinaldi, Eugenia; Feng, Yurong; Aronson, Daniel; Malogolowkin, Marcio; Yoshimura, Kenichi; Leuschner, Ivo; Lopez-Terrada, Dolores; Hishiki, Tomoro; Perilongo, Giorgio; von Schweinitz, Dietrich; Schmid, Irene; Watanabe, Kenichiro; Derosa, Marisa; Meyers, Rebecka

2016-01-01

Contemporary state-of-the-art management of cancer is increasingly defined by individualized treatment strategies. For very rare tumors, like hepatoblastoma, the development of biologic markers, and the identification of reliable prognostic risk factors for tailoring treatment, remains very challenging. The Children's Hepatic tumors International Collaboration (CHIC) is a novel international response to this challenge. Four multicenter trial groups in the world, who have performed prospective controlled studies of hepatoblastoma over the past two decades (COG; SIOPEL; GPOH; and JPLT), joined forces to form the CHIC consortium. With the support of the data management group CINECA, CHIC developed a centralized online platform where data from eight completed hepatoblastoma trials were merged to form a database of 1605 hepatoblastoma cases treated between 1988 and 2008. The resulting dataset is described and the relationships between selected patient and tumor characteristics, and risk for adverse disease outcome (event-free survival; EFS) are examined. Significantly increased risk for EFS-event was noted for advanced PRETEXT group, macrovascular venous or portal involvement, contiguous extrahepatic disease, primary tumor multifocality and tumor rupture at enrollment. Higher age (≥ 8 years), low AFP (<100 ng/ml) and metastatic disease were associated with the worst outcome. We have identified novel prognostic factors for hepatoblastoma, as well as confirmed established factors, that will be used to develop a future common global risk stratification system. The mechanics of developing the globally accessible web-based portal, building and refining the database, and performing this first statistical analysis has laid the foundation for future collaborative efforts. This is an important step for refining of the risk based grouping and approach to future treatment stratification, thus we think our collaboration offers a template for others to follow in the study of rare

Integrated tumor and germline whole-exome sequencing identifies mutations in MAPK and PI3K pathway genes in an adolescent with rosette-forming glioneuronal tumor of the fourth ventricle

PubMed Central

Lin, Frank Y.; Bergstrom, Katie; Person, Richard; Bavle, Abhishek; Ballester, Leomar Y.; Scollon, Sarah; Raesz-Martinez, Robin; Jea, Andrew; Birchansky, Sherri; Wheeler, David A.; Berg, Stacey L.; Chintagumpala, Murali M.; Adesina, Adekunle M.; Eng, Christine; Roy, Angshumoy; Plon, Sharon E.; Parsons, D. Williams

2016-01-01

The integration of genome-scale studies such as whole-exome sequencing (WES) into the clinical care of children with cancer has the potential to provide insight into the genetic basis of an individual's cancer with implications for clinical management. This report describes the results of clinical tumor and germline WES for a patient with a rare tumor diagnosis, rosette-forming glioneuronal tumor of the fourth ventricle (RGNT). Three pathogenic gene alterations with implications for clinical care were identified: somatic activating hotspot mutations in FGFR1 (p.N546K) and PIK3CA (p.H1047R) and a germline pathogenic variant in PTPN11 (p.N308S) diagnostic for Noonan syndrome. The molecular landscape of RGNT is not well-described, but these data are consistent with prior observations regarding the importance of the interconnected MAPK and PI3K/AKT/mTOR signaling pathways in this rare tumor. The co-occurrence of FGFR1, PIK3CA, and PTPN11 alterations provides further evidence for consideration of RGNT as a distinct molecular entity from pediatric low-grade gliomas and suggests potential therapeutic strategies for this patient in the event of tumor recurrence as novel agents targeting these pathways enter pediatric clinical trials. Although RGNT has not been definitively linked with cancer predisposition syndromes, two prior cases have been reported in patients with RASopathies (Noonan syndrome and neurofibromatosis type 1 [NF1]), providing an additional link between these tumors and the mitogen-activated protein kinase (MAPK) signaling pathway. In summary, this case provides an example of the potential for genome-scale sequencing technologies to provide insight into the biology of rare tumors and yield both tumor and germline results of potential relevance to patient care. PMID:27626068

Polyostotic fibrous dysplasia with gigantism and huge pelvic tumor: a rare case of McCune-Albright syndrome.

PubMed

Sakayama, Kenshi; Sugawara, Yoshifumi; Kidani, Teruki; Fujibuchi, Taketsugu; Kito, Katsumi; Tanji, Nozomu; Nakamura, Atsushi

2011-06-01

We report a rare case of polyostotic fibrous dysplasia on endocrine hyperfunction with elevated human growth hormone and normal serum level of prolactin. There were some differential points of gender, gigantism, endocrine function, and GNAS gene from McCune-Albright syndrome. Malignant transformation was suspected in the pelvic tumor from imaging because rapid growth of the tumor by imaging was observed; however, no malignant change occurred in this case.

Rare Solitary Fibrous Tumor in the Pediatric Neck: A Case Report and Review of the Literature

PubMed Central

Cox, Eric L; Schwartz, Erich J; Korkigian, Shant A

2017-01-01

Solitary fibrous tumors (SFT) are a rare type of mesenchymal-derived tumor not commonly found in the pediatric population, especially in the head and neck. Tumors of this nature are most commonly seen in the adult population and are identified with unique immunohistochemical markers, specifically signal transducer and activator of transcription 6 (STAT6) and hematopoietic progenitor cell antigen (CD34). Including SFTs in the differential diagnosis while working up a mass can be difficult considering their relatively non-descript appearance on imaging and the low yield immunohistochemical staining that must be ordered to confirm diagnosis. The current literature identifies only a handful of cases of SFTs occurring in the pediatric population, with a majority arising from the pleura. We present the case of a 13-year-old male who underwent radical excision of a left occipital triangle neck mass after radiological and pathological workup failed to conclusively make a diagnosis. Postoperative pathologic analysis revealed it to be an SFT. Due to the exceptionally rare presentation of SFTs in pediatric patients, the aim of this case report is to discuss diagnostic measures, solitary fibrous tumor etiology, as well as a recent risk stratification system used for the evaluation of postoperative disease progression. Our hope is that clinicians will include SFTs in their differential diagnosis when working up a neck mass in the pediatric population. PMID:28484679

Surgical treatment of a rare primary renal carcinoid tumor with liver metastasis

PubMed Central

Gedaly, Roberto; Jeon, Hoonbae; Johnston, Thomas D; McHugh, Patrick P; Rowland, Randall G; Ranjan, Dinesh

2008-01-01

Background Carcinoid tumors are characteristically low grade malignant neoplasms with neuroendocrine differentiation that arise in various body sites, most commonly the lung and gastrointestinal tract, but less frequently the kidneys, breasts, ovaries, testes, prostate and other locations. We report a case of a carcinoid of renal origin with synchronous single liver metastases on radiological studies. Case presentation A 45 year-old patient who presented with abdominal pain was found on CT scan to have lesions in the right ovary, right kidney, and left hepatic lobe. CA-125, CEA, and CA 19-9 were within normal limits, as were preoperative liver function tests and renal function. Biopsy of the liver mass demonstrated metastatic neuroendocrine tumor. At laparotomy, the patient underwent total abdominal hysterectomy with bilateral salpingo-oophorectomy, radical right nephrectomy with lymphadenectomy, and left hepatectomy. Pathology evaluation reported a right ovarian borderline serous tumor, well-differentiated neuroendocrine carcinoma of the kidney (carcinoid) with 2 positive retroperitoneal lymph nodes, and a single liver metastasis. Immunohistochemistry revealed that this lesion was positive for synaptophysin and CD56, but negative for chromogranin as well as CD10, CD7, and CD20, consistent with a well-differentiated neuroendocrine tumor. She is doing well one year after her initial surgery, with no evidence of tumor recurrence. Conclusion Early surgical intervention, together with careful surveillance and follow-up, can achieve successful long-term outcomes in patients with this rare malignancy. PMID:18430248

Acute lymphoblastic leukemia mimicking Wilms tumor at presentation.

PubMed

Singh, Amitabh; Mandal, Anirban; Guru, Vijay; Seth, Rachna

2016-09-01

Acute lymphoblastic leukemia (ALL), the commonest malignancy of childhood, is known to manifest with a myriad of atypical presentations. Nephromegaly is a rare presentation of childhood ALL with hepatic mass being even rarer. We present a 3 year-old child with unilateral renal mass and hepatic mass lesion with normal blood counts, initially suspected to have metastatic Wilms tumor based on clinical, radiological and WT1 positivity on immunocytochemistry of renal mass. He was later diagnosed as ALL with peripheral blood flowcytometry and bone marrow examination. Renomegaly at presentation of acute leukemia is not necessarily due to leukemic infiltration and rarely leads to renal impairment. The radiological differential of such a renal mass includes both benign and malignant entities including metastasis. Over-expression of WT1 mRNA has been found in a number of solid tumors and hematological malignancies and is far from being diagnostic of Wilms tumor. Again, a small number of children with acute leukemia may have a deceptively normal complete blood count at presentation. Though, initial all (clinical, radiological, hematological, and immunocytological) parameters pointed towards a diagnosis of Wilms tumor in our case, the subsequent development of thrombocytopenia and lymphocytic leukocytosis prompted further investigation and final diagnosis of ALL. WT1 positivity is a known phenomenon in childhood ALL and undifferentiated lymphoblasts may be positive for WT1 and negative for Leucocyte common antigen. Acute leukemia with renal and hepatic mass with normal blood counts at presentation is a diagnostic challenge.

Cutaneous plasmacytosis: A rare entity with unique presentation.

PubMed

Dhar, Subhra; Liani, Lalthleng; Patole, Kamlakar; Dhar, Sandipan

2017-01-01

Primary cutaneous plasmacytosis is a rare cutaneous disorder with extensive cutaneous plaques/papules mainly on the trunk and face. Cases have mostly been documented from Japan. We present here a rare case of cutaneous plasmacytosis from India of Mongolian descent. This 50-year-old female from Mizoram had extensive maculo-papular violaceous plaques distributed on the face, axillae, trunk and lower extremities. Initial and repeat skin biopsy revealed dense perivascular and periadnexal mature plasma cells. She also had lymphadenopathy. Serum protein electrophoresis did not reveal any M band and the Bence Jones protein was negative in urine. The patient had multiple superficial lymph nodes and a biopsy from the cervical lymph node showed effacement of normal nodal architecture by sheets of plasma cells. Immuno histochemistry was done from both skin and lymph node biopsies. The kappa and lambda tight chains were not restricted; there by proving the polyclonal nature of the plasma cells. The novelty of the case lies in its classical clinical presentation with histopathological documentation.

Intraepidermal Merkel cell carcinoma: A case series of a rare entity with clinical follow up.

PubMed

Jour, George; Aung, Phyu P; Rozas-Muñoz, Eduardo; Curry, Johnathan L; Prieto, Victor; Ivan, Doina

2017-08-01

Merkel cell carcinoma (MCC) is a rare but aggressive cutaneous carcinoma. MCC typically involves dermis and although epidermotropism has been reported, MCC strictly intraepidermal or in situ (MCCIS) is exceedingly rare. Most of the cases of MCCIS described so far have other associated lesions, such as squamous or basal cell carcinoma, actinic keratosis and so on. Herein, we describe 3 patients with MCC strictly in situ, without a dermal component. Our patients were elderly. 2 of the lesions involved the head and neck area and 1 was on a finger. All tumors were strictly intraepidermal in the diagnostic biopsies, and had histomorphologic features and an immunohistochemical profile supporting the diagnosis of MCC. Excisional biopsies were performed in 2 cases and failed to reveal dermal involvement by MCC or other associated malignancies. Our findings raise the awareness that MCC strictly in situ does exist and it should be included in the differential diagnosis of Paget's or extramammary Paget's disease, pagetoid squamous cell carcinoma, melanoma and other neoplasms that typically show histologically pagetoid extension of neoplastic cells. Considering the limited number of cases reported to date, the diagnosis of isolated MCCIS should not warrant a change in management from the typical MCC. © 2017 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

Visualization of melanoma tumor with lectin-conjugated rare-earth doped fluoride nanocrystals

PubMed Central

Dumych, Tetiana; Lutsyk, Maxym; Banski, Mateusz; Yashchenko, Antonina; Sojka, Bartlomiej; Horbay, Rostyslav; Lutsyk, Alexander; Stoika, Rostyslav; Misiewicz, Jan; Podhorodecki, Artur; Bilyy, Rostyslav

2014-01-01

Aim To develop specific fluorescent markers for melanoma tumor visualization, which would provide high selectivity and reversible binding pattern, by the use of carbohydrate-recognizing proteins, lectins, combined with the physical ability for imaging deep in the living tissues by utilizing red and near infrared fluorescent properties of specific rare-earth doped nanocrystals (NC). Methods B10F16 melanoma cells were inoculated to C57BL/6 mice for inducing experimental melanoma tumor. Tumors were removed and analyzed by lectin-histochemistry using LABA, PFA, PNA, HPA, SNA, GNA, and NPL lectins and stained with hematoxylin and eosin. NPL lectin was conjugated to fluorescent NaGdF4:Eu3+-COOH nanoparticles (5 nm) via zero length cross-linking reaction, and the conjugates were purified from unbound substances and then used for further visualization of histological samples. Fluorescent microscopy was used to visualize NPL-NaGdF4:Eu3+ with the fluorescent emission at 600-720 nm range. Results NPL lectin selectively recognized regions of undifferentiated melanoblasts surrounding neoangiogenic foci inside melanoma tumor, PNA lectin recognized differentiated melanoblasts, and LCA and WGA were bound to tumor stroma regions. NPL-NaGdF4:Eu3+ conjugated NC were efficiently detecting newly formed regions of melanoma tumor, confirmed by fluorescent microscopy in visible and near infrared mode. These conjugates possessed high photostability and were compatible with convenient xylene-based mounting systems and preserved intensive fluorescent signal at samples storage for at least 6 months. Conclusion NPL lectin-NaGdF4:Eu3+ conjugated NC permitted distinct identification of contours of the melanoma tissue on histological sections using red excitation at 590-610 nm and near infrared emission of 700-720 nm. These data are of potential practical significance for development of glycans-conjugated nanoparticles to be used for in vivo visualization of melanoma tumor. PMID:24891277

Diffuse corpus callosum infarction - Rare vascular entity with differing etiology.

PubMed

Mahale, Rohan; Mehta, Anish; Buddaraju, Kiran; John, Aju Abraham; Javali, Mahendra; Srinivasa, Rangasetty

2016-01-15

Infarctions of the corpus callosum are rare vascular events. It is relatively immune to vascular insult because of its rich vascular supply from anterior and posterior circulations of brain. Report of 3 patients with largely diffuse acute corpus callosum infarction. 3 patients with largely diffuse acute corpus callosum infarction were studied and each of these 3 patients had 3 different aetiologies. The 3 different aetiologies of largely diffuse acute corpus callosum infarction were cardioembolism, tuberculous arteritis and takayasu arteritis. Diffuse corpus callosum infarcts are rare events. This case series narrates the three different aetiologies of diffuse acute corpus callosum infarction which is a rare vascular event. Copyright © 2015 Elsevier B.V. All rights reserved.

Dupuytren in a Child: Rare Presentation of a Rare Clinical Entity.

PubMed

Spyropoulou, Georgia-Alexandra; Pavlidis, Leonidas; Milothridis, Panagiotis; Zaraboukas, Thomas; Demiri, Efterpi

2016-12-01

Dupuytren disease in children younger than 10 years is rare and only 8 histologically proven cases have been reported. A histologically proven Dupuytren disease in a 10-year-old with an uncommon clinical presentation as a nodule on the radial side of the middle phalanx of the little finger is documented. Dupuytren's disease should be in the differential diagnosis in cases of nodules and contractures in the palm and fingers of children. Copyright © 2016 American Society for Surgery of the Hand. Published by Elsevier Inc. All rights reserved.

Triple ectopic thyroid: A rare entity

PubMed Central

Nilegaonkar, Sujit; Naik, Chetna; Sonar, Sameer; Hirawe, Deepti

2011-01-01

Ectopic thyroid tissue is an uncommon congenital aberration. It is extremely rare to have three ectopic foci at three different sites. The thyroid scan has been used successfully to diagnose ectopic thyroid tissue. We report a case of ectopic thyroid tissue at base of tongue, another at the level of hyoid and third one as aberrant tissue at suprahyoid location in a 16 year old female who presented with swelling in front of neck. This patient was clinically diagnosed as thyroglossal cyst and was being planned for surgery. Preoperative thyroid scan helped in establishing diagnosis of ectopic thyroid which was the only functioning thyroid tissue. Thus, it prevented unnecessary surgery. Therefore it is suggested that thyroid scan and USG/CT scan must be done as routine work up in neck swellings pre operatively to avoid unnecessary surgeries. PMID:23559716

Diffuse lipomatosis of the thyroid gland with papillary microcarcinoma: Report of a rare entity.

PubMed

Nandyala, Hariharanadha Sarma; Madapuram, Srinivasulu; Yadav, Megha; Katamala, Sudheer Kumar

2015-01-01

Presence of lobules of adipose tissue either focally or diffusely is very rare in the thyroid gland. Fat accumulation can be macroscopic or microscopic. Focal infiltrates of fat have been reported in conditions such as adenolipoma, intrathyroid lipoma, and encapsulated papillary carcinoma. Diffuse lipomatosis has been reported in conditions such as amyloid goitre, heterotopic fat nests, thyrolipoma and liposarcoma. The exact mechanism of fat accumulation is not known although there are many theories postulated. Investigations such as ultrasound, computed tomography scan, and magnetic resonance imaging can detect the presence of macroscopic fat in the thyroid gland. Accurate diagnosis of the type of fat accumulation is necessary because tumorous and nontumorous conditions fall into the differential diagnosis. Only nine cases of papillary carcinoma associated with lipomatosis of thyroid are reported so far. We report possibly the first case of diffuse lipomatosis of the thyroid gland with a focus of papillary microcarcinoma.

Recurrent multifocal cutaneous Kaposiform hemangioendothelioma: A rare vascular tumor of infancy and childhood.

PubMed

Atla, Bhagyalakshmi; Sudhakar, P V; Rao, Nagarjun; Prasad, Uma

2016-01-01

Kaposiform hemangioendothelioma (KHE) is a locally aggressive vascular tumor of childhood although cases occurring in adulthood are also described. The features overlap with juvenile capillary hemangioma and Kaposi sarcoma. We report a rare case of recurrent, multifocal (nose and chin) cutaneous KHE initially occurring in a 3-year-old female child, uncomplicated by Kasabach-Merritt syndrome. Recurrences occurred over the next 6 years and resulted in complete distortion of the nose, requiring plastic repair.

Rare cancers in The Netherlands: a population-based study.

PubMed

van der Zwan, Jan M; van Dijk, Boukje A C; Visser, Otto; van Krieken, Han J H J M; Capocaccia, Riccardo; Siesling, Sabine

2018-07-01

The conventional definition for rare disease is based on prevalence. Because of differences in prognosis, a definition on the basis of incidence was deemed to be more appropriate for rare cancers. Within the European RARECARE project, a definition was introduced that defines cancers as rare when the crude incidence rate is less than six per 100 000 per year. In this study, we applied the RARECARE definition for rare cancer to the Netherlands; this to identify the usefulness of the definition in a single country and to provide more insight into the burden of rare cancers in the Netherlands. Data for 2004 through 2008 were extracted from the Netherlands Cancer Registry and classified according to the RARECARE entities (tumour groupings). Crude and European standardized incidence rates were calculated. Out of the 260 entities, 223 (86%) were rare according to the definition, accounting for 14 000 cancers (17% of all). Considerable fluctuations in crude rates over years were observed for the major group of cancers. Rare tumours in the Netherlands constituted 17% of all newly diagnosed tumours, but were divided over 223 different entities, indicating the challenge that faces clinicians. To make the definition of rare cancers better applicable, it should be refined by taking into consideration the sex-specific incidence for sex-specific cancer sites. Moreover, a mean incidence over 5 years will provide more solid insight into the burden, eliminating large fluctuations in time of most of the cancers.

Solitary fibrous tumor of the breast: A case report and the review of the literature.

PubMed

Salemis, Nikolaos S

2018-01-01

Solitary fibrous tumors (SFT) are rare mesenchymal neoplasms. They were first described as spindle-cell tumors originating from the pleura, but they may arise in any anatomical site. SFT of the breast is an exceedingly rare clinical entity. Our literature review yielded only 21 cases reported so far. We describe a case of a SFT of the breast in a premenopausal patient who presented with a gradually enlarging palpable breast mass. Diagnostic evaluation and management are discussed along with a review of the relevant literature. There are no pathognomonic imaging findings of SFT of the breast. Complete surgical resection with clear margins is the gold standard of treatment. Thorough immunohistochemical analysis is crucial to obtain a definitive diagnosis. Although most SFTs run an indolent course, in some cases the clinical behavior can be unpredictable and a long-term follow-up for all patients is therefore mandatory. © 2017 Wiley Periodicals, Inc.

Renal cell carcinoma with t(6:11) (p21;q12). A case report highlighting distinctive immunohistologic features of this rare tumor.

PubMed

Arneja, Sarabjeet Kaur; Gujar, Neeraj

2015-01-01

Renal cell carcinoma (RCC) with t(6:11) (p21;q12) are extremely rare, fewer than 30 cases have been reported in literature. These tumors are characterized by specific chromosomal translocation involving TFEB, as against the more commonly known TFE3 (Xp11.2) translocation associated RCCs. The distinctive immnohistologic features are helpful in enabling a diagnosis of this rare tumor, otherwise diagnosed by fluorescence in situ hybridization assay, specific for detecting TFEB gene rearrangement. Herein, we report a case of this rare tumor in a 11 years old boy, with the objective of highlighting distinctive light microscopic and immuno-phenotypic features of this rare sub-type of translocation associated renal cell carcinoma, otherwise diagnosed by fluorescence in situ hybridization technique. Morphologically tumor showed distinctive biphasic population of cells, large epitheloid cells with voluminous eosinophillic cytoplasm and smaller cells with much lesser amount of cytoplasm and small rounded nuclei. The smaller cells at places clustered around hyaline pink material forming "pseudorosettes". population. Immunohistochemically both types of tumor cells showed negativity for pan CK (cytokeratin), EMA (epitheleal membrane antigen) and TFE3 (transcription factor E3). HMB 45 (human melanoma black 45) and Melan- A /MART 1 (melanoma antigen recognized by T cells) were moderate to strongly expressed. On review of literature, most RCCs with t(6;11) translocation have been reported to be negative for pan cytokeratins and EMA. Published literature also shows that the most distinctive immunohistochemical feature of t(6;11) translocation RCC is nuclear staining for TFEB protein. Immunostains for TFE3 have always been negative in the reported cases. It is noteworthy that immunoreactivity for melanocytic markers HMB45 and Melan A and immunonegativity for epithelial markers pan CK and EMA may lead to misdiagnosis of angiomyolipoma to the unwary. Knowledge of distinctive

Highly differentiated keratinizing squamous cell cancer of the cervix: a rare, locally aggressive tumor not associated with human papillomavirus or squamous intraepithelial lesions.

PubMed

Morrison, C; Catania, F; Wakely, P; Nuovo, G J

2001-10-01

The purpose of this study is to report an unusual variant of cervical squamous cell carcinoma, not associated with either human papillomavirus infection or antecedent squamous intraepithelial lesions. Five women had a diagnosis of invasive cervical cancer discovered at hysterectomy performed for prolapse (two cases), leiomyoma (one case), or a vaginal fistula (two cases). The women ranged in age from 47 to 78 years (mean 59 years). Four of the five had a history of normal Papanicolaou (Pap) smears; the other had a Pap smear diagnosis of atypical squamous cells of undetermined significance (ASCUS). All had large cervical tumors (two with parametrial involvement and one with vaginal involvement) that showed extensive keratin formation, an inverted pattern of growth, and, except for one case, minimal cytologic atypia. There was extensive hyperkeratosis and parakeratosis adjacent to each tumor; none had evidence of squamous intraepithelial lesion. Human papillomavirus testing by polymerase chain reaction in situ hybridization and reverse-transcribed polymerase chain reaction in situ was negative in each case, compared with a detection rate of 107 of 108 (99%) for squamous intraepithelial lesion-associated cervical squamous cell and adenocarcinomas. Two of the women died of extensive local recurrence; two other women were recently diagnosed. We conclude that highly differentiated keratinizing squamous cell carcinoma of the cervix is a rare entity not associated with human papillomavirus infection or squamous intraepithelial lesion and thus difficult to detect on routine cervical cancer screening.

Solid papillary carcinoma of the breast: A special entity needs to be distinguished from conventional invasive carcinoma avoiding over-treatment.

PubMed

Guo, Shuangping; Wang, Yingmei; Rohr, Joseph; Fan, Chaoliang; Li, Qinglong; Li, Xia; Wang, Zhe

2016-04-01

Solid papillary carcinoma of the breast, a newly-defined entity, is poorly recognized, and its nature and management is still debated. Eleven cases of pure solid papillary breast carcinoma in our archive and 253 cases reported in previous literature were retrospectively analyzed for their clinicopathological features and outcomes. The eleven cases occurred in elderly females. Grossly, all tumors were well-circumscribed and typically composed of solid papillary nodules. The tumor cells were bland-looking with low-grade atypia and mitoses < 5/10HPF. Immunophenotypically, all eleven cases showed positivity for ER and PR, negativity for CK5/6 and HER2, and a low proliferative index of Ki67. Five cases showed scattered positivity for myoepithelial marker p63, and four cases were positive for CK5/6 and CD10 around the nodules, whereas the other cases were completely negative for all myoepithelial markers. Five cases expressed the neuroendocrine marker synaptophysin, and six cases expressed chromogranin. In nine cases, mastectomy and axillary lymph nodes excision were performed, and only one showed micrometastasis in an axillary lymph node. There was no local recurrence or distant metastasis or breast carcinoma related-death during the follow-up periods of 50 months. Out of 253 solid papillary breast carcinomas reported in literature, the percentage of axillary lymph node metastasis was 4/136 (3%), with rare local recurrences and distant metastasis; only three patients died of breast carcinoma. Solid papillary carcinoma of the breast is a rare entity with distinctive clinicopathological features and excellent prognosis and should be distinguished from conventional breast carcinoma to avoid over-treatment. Copyright © 2016 Elsevier Ltd. All rights reserved.

Intramuscular atypical lipomatous tumor/well-differentiated liposarcoma of the pectoralis major masquerading as a breast tumor: management and review of the literature.

PubMed

Salemis, Nikolaos S

2015-02-01

Atypical lipomatous tumor (ALT)/well-differentiated liposarcoma (WDL) of the pectoralis major muscle is an exceedingly rare clinical entity. We describe here a case of intramuscular ALT/WDL of the pectoralis major muscle in a female patient who presented with clinical manifestations of a rapidly growing breast tumor. Diagnostic evaluation and management of the patient are discussed along with a review of the relevant literature. We conclude that although the clinical examination may be inconclusive, the mammogram and especially the magnetic resonance imaging scan can precisely delineate the anatomic location and extent of the ALT/WDL of the pectoralis major muscle, thus allowing a correct preoperative diagnosis and adequate preoperative surgical planning. Complete resection is the treatment of choice for ALT/WDL. Long-term follow-up, however, remains mandatory because of the risk of local recurrence or delayed dedifferentiation.

Intramuscular Atypical Lipomatous Tumor/Well-Differentiated Liposarcoma of the Pectoralis Major Masquerading as a Breast Tumor: Management and Review of the Literature

PubMed Central

Salemis, Nikolaos S.

2015-01-01

Atypical lipomatous tumor (ALT)/well-differentiated liposarcoma (WDL) of the pectoralis major muscle is an exceedingly rare clinical entity. We describe here a case of intramuscular ALT/WDL of the pectoralis major muscle in a female patient who presented with clinical manifestations of a rapidly growing breast tumor. Diagnostic evaluation and management of the patient are discussed along with a review of the relevant literature. We conclude that although the clinical examination may be inconclusive, the mammogram and especially the magnetic resonance imaging scan can precisely delineate the anatomic location and extent of the ALT/WDL of the pectoralis major muscle, thus allowing a correct preoperative diagnosis and adequate preoperative surgical planning. Complete resection is the treatment of choice for ALT/WDL. Long-term follow-up, however, remains mandatory because of the risk of local recurrence or delayed dedifferentiation. PMID:25692417

Breast abscess as the initial manifestation of primary pure squamous cell carcinoma: a rare presentation and literature review.

PubMed

Salemis, Nikolaos S

2011-01-01

Primary squamous cell carcinoma of the breast is a very rare tumor accounting for less than 0.4% of all breast cancers. Fewer than 100 cases have been reported in the literature so far. The diagnosis requires strict pathologic criteria to be fulfilled. Due to the rarity of this tumor the optimal treatment and prognosis are both unclear. Breast abscess as the initial presentation of a primary squamous cell breast carcinoma is an extremely rare clinical entity. In this study, we describe a case of a 61-year-old postmenopausal woman who presented with typical manifestations of a breast abscess and was diagnosed with a pure primary squamous cell breast carcinoma. Diagnostic evaluation and management of the patient are discussed along with a review of the literature. Despite its rarity, the possibility of a primary pure squamous cell breast carcinoma should always be considered in the differential diagnosis in postmenopausal patients presenting with manifestations of a breast abscess, especially in those who respond poorly to the initial treatment. Physicians should be aware of this rare malignancy in order to avoid delays in diagnosis and treatment.

The metaplastic variant of Warthin tumor of the parotid gland: dynamic multislice computerized tomography and magnetic resonance imaging findings with histopathologic correlation in a case.

PubMed

Yerli, Hasan; Avci, Suat; Aydin, Erdinc; Arikan, Unser

2010-03-01

Metaplastic Warthin tumor is a rarely seen subtype of Warthin tumor. It can resemble squamous carcinomas histopathologically, because it contains atypical squamous cells on the necrotic surface. Making a diagnosis can become easier by knowing this entity of Warthin tumor well and by correlating the radiologic findings with pathology. In this case presentation, imaging features of a metaplastic Warthin tumor are presented together with its histopathologic findings. When a solid mass with peripheral enhancing cystic-necrotic component and well defined contour and capsule that shows early enhancement and washout is identified with imaging methods in parotid gland, metaplastic Warthin tumor should be indicated in the differential diagnosis before the histopathologic evaluation. Copyright 2010 Mosby, Inc. All rights reserved.

A squamous odontogenic tumor following an orthodontic micro-screw: A rare case report and review of the literature.

PubMed

Tu, Jingqiu; Yin, Ping; Yuan, Yunyi; Chen, Jie; Yuan, Yongxiang; Lei, Yonghua

2018-02-01

We reported a very rare case of squamous odontogenic tumor(SOT) in a 23-year-old female. The tumor arose after an implanting operation of an orthodontic micro-screw, and was definitely diagnosed by the histopathological examination. Based on the case report and a review of the literature, we discussed about the general features, differential diagnosis and pathogenesis of SOT. Copyright © 2017 Elsevier Ltd. All rights reserved.

Multifunctional biocompatible graphene oxide quantum dots decorated magnetic nanoplatform for efficient capture and two-photon imaging of rare tumor cells.

PubMed

Shi, Yongliang; Pramanik, Avijit; Tchounwou, Christine; Pedraza, Francisco; Crouch, Rebecca A; Chavva, Suhash Reddy; Vangara, Aruna; Sinha, Sudarson Sekhar; Jones, Stacy; Sardar, Dhiraj; Hawker, Craig; Ray, Paresh Chandra

2015-05-27

Circulating tumor cells (CTCs) are extremely rare cells in blood containing billions of other cells. The selective capture and identification of rare cells with sufficient sensitivity is a real challenge. Driven by this need, this manuscript reports the development of a multifunctional biocompatible graphene oxide quantum dots (GOQDs) coated, high-luminescence magnetic nanoplatform for the selective separation and diagnosis of Glypican-3 (GPC3)-expressed Hep G2 liver cancer tumor CTCs from infected blood. Experimental data show that an anti-GPC3-antibody-attached multifunctional nanoplatform can be used for selective Hep G2 hepatocellular carcinoma tumor cell separation from infected blood containing 10 tumor cells/mL of blood in a 15 mL sample. Reported data indicate that, because of an extremely high two-photon absorption cross section (40530 GM), an anti-GPC3-antibody-attached GOQDs-coated magnetic nanoplatform can be used as a two-photon luminescence platform for selective and very bright imaging of a Hep G2 tumor cell in a biological transparency window using 960 nm light. Experimental results with nontargeted GPC3(-) and SK-BR-3 breast cancer cells show that multifunctional-nanoplatform-based cell separation, followed by two-photon imaging, is highly selective for Hep G2 hepatocellular carcinoma tumor cells.

Multifunctional Biocompatible Graphene Oxide Quantum Dots Decorated Magnetic Nanoplatform for Efficient Capture and Two-Photon Imaging of Rare Tumor Cells

PubMed Central

2016-01-01

Circulating tumor cells (CTCs) are extremely rare cells in blood containing billions of other cells. The selective capture and identification of rare cells with sufficient sensitivity is a real challenge. Driven by this need, this manuscript reports the development of a multifunctional biocompatible graphene oxide quantum dots (GOQDs) coated, high-luminescence magnetic nanoplatform for the selective separation and diagnosis of Glypican-3 (GPC3)-expressed Hep G2 liver cancer tumor CTCs from infected blood. Experimental data show that an anti-GPC3-antibody-attached multifunctional nanoplatform can be used for selective Hep G2 hepatocellular carcinoma tumor cell separation from infected blood containing 10 tumor cells/mL of blood in a 15 mL sample. Reported data indicate that, because of an extremely high two-photon absorption cross section (40530 GM), an anti-GPC3-antibody-attached GOQDs-coated magnetic nanoplatform can be used as a two-photon luminescence platform for selective and very bright imaging of a Hep G2 tumor cell in a biological transparency window using 960 nm light. Experimental results with nontargeted GPC3(−) and SK-BR-3 breast cancer cells show that multifunctional-nanoplatform-based cell separation, followed by two-photon imaging, is highly selective for Hep G2 hepatocellular carcinoma tumor cells. PMID:25939643

[A new entity in WHO classification of tumors of the central nervous system--embryonic tumor with abundant neuropil and true rosettes: case report and review of literature].

PubMed

Ryzhova, M V; Zheludkova, O G; Ozerov, S S; Shishkina, L V; Panina, T N; Gorelyshev, S K; Novikov, A I; Melikian, A G; Kushel', Iu V; Korshunov, A E

2011-01-01

Embryonic tumor with abundant neuropil and true rosettes (ETANTR) is a very aggressive rare tumor with unique histologic and molecular features occurring in very young children. At present approximately 80 cases of ETANTR have been documented in the literature since first description in 2000. We report seven patients with ETANTR below 4 years of age who underwent surgical resection in the Burdenko Neurosurgery Institute between 2005 and 2010. Four children have received different modality chemotherapy and radiotherapy and two patients were treated by chemotherapy alone. One child did not receive any adjuvant treatment. All children had local relapses, two of them were operated twice. A 2 year old girl underwent subtotal resection thrice. Histological examination showed that all tumors were composed of true multilayered rosettes admixed with large areas of paucicellular neuropil. By analysis of recurrences we have found that large areas of neuropil and number of true rosettes were lost and tumors acquired a resemblance to central nervous system primitive neuroectodermal tumors. In four cases frozen tumor material was available for array-based comparative genomic hybridization, which discovered trisomy of chromosome 2 and amplification at the 19q13.42 chromosome locus. Fluorescence in situ hybridization revealed amplification at the 19q13.42 chromosome locus in all cases.

A systematic review: perivascular epithelioid cell tumor of gastrointestinal tract.

PubMed

Chen, Zehong; Han, Siqi; Wu, Jialin; Xiong, Minmin; Huang, Yanqiao; Chen, Jianhui; Yuan, Yujie; Peng, Jianjun; Song, Wu

2016-07-01

Perivascular epithelioid cell tumor (PEComa) is a rare entity with distinctive morphology and of expressing myomelanocytic markers. Gastrointestinal tract (GI) is one of the most common anatomic sites of origin and counts for 20% to 25% of all reported cases of perivascular epithelioid cell tumors not otherwise specified (PEComas-NOS). However, the biologic behavior of perivascular epithelioid cell tumors of gastrointestinal tract (GI PEComas-NOS) is still unclear. The aim of conducting this systematic review is to sum up what is known so far of the epidemiology, natural history, management and prognosis of GI PEComas-NOS.A systematic research was performed on PubMed and EMBASE using the following terms: ("perivascular epithelioid cell tumor" or "PEComa") and ("gastrointestinal tract" or "GI" or "oral " or "mouth" or "esophagus" or "gullet" or "gastric" or "stomach" or "duodenum" or "jejunum" or "ileum" or "cecum" or "colon" or "colorectal" or "sigmoid" or "rectum" or "anus" or "mesentery") up to December 1, 2015. Retrieved GI PEComas-NOS publications, which included these terms, contains case reports, case series to case characteristic researches.A total of 168 articles were reviewed, 41 GI PEComa-NOS English studies among which were retrieved for analysis. We reviewed epidemiology, natural history, management and prognosis of GI PEComa-NOS. Generally GI PEComa-NOS is believed to have women predomination. The most frequently involved location is colon with non-specific clinical signs. Pathologically, GI PEComas-NOS shows epithelioid predominance (70%), meanwhile coexpresses melanocytic and muscle markers characteristically, while immunohistochemistry is a useful tool for identify, which indicates that HMB-45 is regarded as the most sensitive reagent. Complete resection served as mainstay of treatment, while chemotherapy should be unanimously considered to apply in malignant cases. Eventually, it is necessary for closed and long-term follow-up with endoscope and

Primary Ewing's Sarcoma of the Temporal Bone: A Rare Case Report and Literature Review.

PubMed

Gupta, Divya; Gulati, Achal; Purnima

2017-09-01

Ewing's sarcoma is a malignant, round cell tumor arising from the bones and primarily affecting children and adolescent, accounting for 3 % of all childhood malignancies. Although the long bones and the trunk are typically affected, rare cases of it involving isolated bones throughout the body have been reported. Involvement of the skull bones is rare, constituting 1-6 % of the total Ewing's sarcoma cases but those affecting the cranial bones are rarer still, constituting only 1 %. We describe an 8 months old infant having Ewing sarcoma, of the petrous and mastoid parts of temporal bone along with the occipital bone, whose clinical presentation mimicked mastoiditis with facial nerve palsy. We discuss the clinical and therapeutic course of an extensive primary Ewing sarcoma of the temporal bone, which was treated without performing surgery and review this entity's literature in detail.

Extracranial metastasizing solitary fibrous tumors (SFT) of meninges: histopathological features of a case with long-term follow-up.

PubMed

Gessi, Marco; Gielen, Gerrit H; Roeder-Geyer, Eva-Dorette; Sommer, Clemens; Vieth, Michael; Braun, Veit; Kuchelmeister, Klaus; Pietsch, Torsten

2013-02-01

Extrapleural solitary fibrous tumors are uncommon mesenchymal neoplasms frequently observed in middle-aged adults and are classified, according to the WHO classification of soft tissue tumors, as part of the hemangiopericytoma tumor group. However, these two entities remain separated in the WHO classification of tumors of the central nervous system. In fact, meningeal solitary fibrous tumors are believed to be benign lesion and only in a minority of cases local relapses have been described, although detailed survival clinical studies on solitary fibrous tumors of meninges are rare. In contrast to hemangiopericytoma, which frequently shows distant extracranial metastases, such an event is exceptional in patients with meningeal solitary fibrous tumors and has been clinically reported in a handful of cases only and their histopathological features have not been investigated in detail. In this report, we describe the detailed clinico-pathological features of a meningeal solitary fibrous tumor presenting during a 17-year follow-up period, multiple intra-, extracranial relapses and lung metastases. © 2012 Japanese Society of Neuropathology.

Report of Two Cases of Combined Odontogenic Tumors: Ameloblastoma with Odontogenic Keratocyst and Ameloblastic Fibroma with Calcifying Odontogenic Cyst.

PubMed

Neuman, Ashley Nicole; Montague, Lindsay; Cohen, Donald; Islam, Nadim; Bhattacharyya, Indraneel

2015-09-01

Combined odontogenic neoplasms have rarely been documented. Such tumors have also been described by other researchers as "hybrid" lesions. The histologic features are often identical to other individually well-established odontogenic neoplasms such as ameloblastoma, adenomatoid odontogenic tumor, ameloblastic fibroma (AF), and ameloblastic fibro-odontoma. Their clinical presentation is variable, ranging from cysts to neoplasms showing varying degrees of aggressive behavior. Most combined tumors contain features of one of the odontogenic tumors in combination with either a calcifying odontogenic cyst (COC) or a calcifying epithelial odontogenic tumor. We present two new cases of combined odontogenic tumors: an ameloblastoma with an odontogenic keratocyst and an AF with COC. Predicting clinical outcome is challenging when a combination tumor is encountered due to the paucity of such lesions. One must understand salient features of these entities and differentiate them from the more common conventional neoplasms to expand classification and provide prognostic criteria.

Kidney fibroxanthoma (malignant fibrous xanthoma): a rare tumor and an unusual cause of retroperitoneal hemorrhage.

PubMed

Witz, M; Bernheim, J; Dinbar, A; Griffel, B

1984-06-01

A case of kidney fibroxanthoma (malignant fibrous xanthoma, malignant variant of xanthogranuloma), a rare malignant neoplasm of kidney, is described. In addition to the typical histologic features of retroperitoneal xanthogranuloma, this tumor showed obvious pleomorphism and mitotic activity of the histiocytes. We present this case in view of the rarity of this neoplasm and the unusual presentation as massive retroperitoneal hemorrhage.

Malignant perivascular epithelioid cell tumor (PEComa) of the femur: a case report and literature review.

PubMed

Lao, I Weng; Yu, Lin; Wang, Jian

2015-05-29

We describe a case of malignant perivascular epithelial cell tumor (PEComa) arising primarily in the distal left femur of a 47-year-old male. The patient presented with pain accompanied by progressive swelling of his left thigh. Computed tomography (CT) scan and magnetic resonance imaging (MRI) revealed an osteolytic lesion. Curettage of the lesion was reported as a clear cell tumor with recommendation for exclusion of a metastatic clear cell carcinoma. However, thorough examinations did not find any primary site elsewhere, apart from the presence of bilateral pulmonary metastases. Evaluation of the submitted H & E slides identified a malignant PEComa which was further confirmed by subsequent immunohistochemical study. The occurrence of PEComa as a primary bone lesion is extremely rare. We present here a malignant PEComa of the distal left femur, and summarize the clinicopathological characteristics of this rare entity with literature review. The virtual slide (s) for this article can be found here: http://www.diagnosticpathology.diagnomx.eu/vs/5729035221600545 .

CT and MR imaging features in phosphaturic mesenchymal tumor-mixed connective tissue: A case report

PubMed Central

Shi, Zhenshan; Deng, Yiqiong; Li, Xiumei; Li, Yueming; Cao, Dairong; Coossa, Vikash Sahadeo

2018-01-01

Phosphaturic mesenchymal tumor-mixed connective tissue (PMT-MCT) is rare and usually benign and slow-growing. The majority of these tumors is associated with sporadic tumor-induced osteomalacia (TIO) or rickets, affect middle-aged individuals and are located in the extremities. Previous imaging studies often focused on seeking the causative tumors of TIO, not on the radiological features of these tumors, especially magnetic resonance imaging (MRI) features. PMT-MCT remains a largely misdiagnosed, ignored or unknown entity by most radiologists and clinicians. In the present case report, a review of the known literature of PMT-MCT was conducted and the CT and MRI findings from three patient cases were described for diagnosing the small subcutaneous tumor. Typical MRI appearances of PMT-MCT were isointense relative to the muscles on T1-weighted imaging, and markedly hyperintense on T2-weighted imaging containing variably flow voids, with markedly heterogeneous/homogenous enhancement on post contrast T1-weighted fat-suppression imaging. Short time inversion recovery was demonstrated to be the optimal sequence in localizing the tumor. PMID:29552133

CT and MR imaging features in phosphaturic mesenchymal tumor-mixed connective tissue: A case report.

PubMed

Shi, Zhenshan; Deng, Yiqiong; Li, Xiumei; Li, Yueming; Cao, Dairong; Coossa, Vikash Sahadeo

2018-04-01

Phosphaturic mesenchymal tumor-mixed connective tissue (PMT-MCT) is rare and usually benign and slow-growing. The majority of these tumors is associated with sporadic tumor-induced osteomalacia (TIO) or rickets, affect middle-aged individuals and are located in the extremities. Previous imaging studies often focused on seeking the causative tumors of TIO, not on the radiological features of these tumors, especially magnetic resonance imaging (MRI) features. PMT-MCT remains a largely misdiagnosed, ignored or unknown entity by most radiologists and clinicians. In the present case report, a review of the known literature of PMT-MCT was conducted and the CT and MRI findings from three patient cases were described for diagnosing the small subcutaneous tumor. Typical MRI appearances of PMT-MCT were isointense relative to the muscles on T1-weighted imaging, and markedly hyperintense on T2-weighted imaging containing variably flow voids, with markedly heterogeneous/homogenous enhancement on post contrast T1-weighted fat-suppression imaging. Short time inversion recovery was demonstrated to be the optimal sequence in localizing the tumor.

A rare case of an ACTH/CRH co-secreting midgut neuroendocrine tumor mimicking Cushing's disease.

PubMed

Streuli, Regina; Krull, Ina; Brändle, Michael; Kolb, Walter; Stalla, Günter; Theodoropoulou, Marily; Enzler-Tschudy, Annette; Bilz, Stefan

2017-01-01

Ectopic ACTH/CRH co-secreting tumors are a very rare cause of Cushing's syndrome and only a few cases have been reported in the literature. Differentiating between Cushing's disease and ectopic Cushing's syndrome may be particularly difficult if predominant ectopic CRH secretion leads to pituitary corticotroph hyperplasia that may mimic Cushing's disease during dynamic testing with both dexamethasone and CRH as well as bilateral inferior petrosal sinus sampling (BIPSS). We present the case of a 24-year-old man diagnosed with ACTH-dependent Cushing's syndrome caused by an ACTH/CRH co-secreting midgut NET. Both high-dose dexamethasone testing and BIPSS suggested Cushing's disease. However, the clinical presentation with a rather rapid onset of cushingoid features, hyperpigmentation and hypokalemia led to the consideration of ectopic ACTH/CRH-secretion and prompted a further workup. Computed tomography (CT) of the abdomen revealed a cecal mass which was identified as a predominantly CRH-secreting neuroendocrine tumor. To the best of our knowledge, this is the first reported case of an ACTH/CRH co-secreting tumor of the cecum presenting with biochemical features suggestive of Cushing's disease. The discrimination between a Cushing's disease and ectopic Cushing's syndrome is challenging and has many caveats.Ectopic ACTH/CRH co-secreting tumors are very rare.Dynamic tests as well as BIPSS may be compatible with Cushing's disease in ectopic CRH-secretion.High levels of CRH may induce hyperplasia of the corticotroph cells in the pituitary. This could be the cause of a preserved pituitary response to dexamethasone and CRH.Clinical features of ACTH-dependent hypercortisolism with rapid development of Cushing's syndrome, hyperpigmentation, high circulating levels of cortisol with associated hypokalemia, peripheral edema and proximal myopathy should be a warning flag of ectopic Cushing's syndrome and lead to further investigations.

A rare case of an ACTH/CRH co-secreting midgut neuroendocrine tumor mimicking Cushing's disease

PubMed Central

Streuli, Regina; Krull, Ina; Brändle, Michael; Kolb, Walter; Stalla, Günter; Theodoropoulou, Marily; Enzler-Tschudy, Annette

2017-01-01

Ectopic ACTH/CRH co-secreting tumors are a very rare cause of Cushing’s syndrome and only a few cases have been reported in the literature. Differentiating between Cushing’s disease and ectopic Cushing’s syndrome may be particularly difficult if predominant ectopic CRH secretion leads to pituitary corticotroph hyperplasia that may mimic Cushing’s disease during dynamic testing with both dexamethasone and CRH as well as bilateral inferior petrosal sinus sampling (BIPSS). We present the case of a 24-year-old man diagnosed with ACTH-dependent Cushing’s syndrome caused by an ACTH/CRH co-secreting midgut NET. Both high-dose dexamethasone testing and BIPSS suggested Cushing’s disease. However, the clinical presentation with a rather rapid onset of cushingoid features, hyperpigmentation and hypokalemia led to the consideration of ectopic ACTH/CRH-secretion and prompted a further workup. Computed tomography (CT) of the abdomen revealed a cecal mass which was identified as a predominantly CRH-secreting neuroendocrine tumor. To the best of our knowledge, this is the first reported case of an ACTH/CRH co-secreting tumor of the cecum presenting with biochemical features suggestive of Cushing’s disease. Learning points: The discrimination between a Cushing’s disease and ectopic Cushing’s syndrome is challenging and has many caveats. Ectopic ACTH/CRH co-secreting tumors are very rare. Dynamic tests as well as BIPSS may be compatible with Cushing’s disease in ectopic CRH-secretion. High levels of CRH may induce hyperplasia of the corticotroph cells in the pituitary. This could be the cause of a preserved pituitary response to dexamethasone and CRH. Clinical features of ACTH-dependent hypercortisolism with rapid development of Cushing’s syndrome, hyperpigmentation, high circulating levels of cortisol with associated hypokalemia, peripheral edema and proximal myopathy should be a warning flag of ectopic Cushing’s syndrome and lead to further investigations

Solid pseudopapillary neoplasm of the pancreas: report of a rare case and review of the literature.

PubMed

Yener, Arzu Neşe; Manukyan, Manuk; Mıdı, Ahmet; Cubuk, Rahmi

2014-01-01

Solid pseudopapillary neoplasm, a rare primary neoplasm of the pancreas that typically affects young women, is a relatively indolent entity with favorable prognosis. We here report a 20-year-old young girl with solid pseudopapillary neoplasm who presented with mild dull abdominal discomfort without any significant laboratory findings. On MRI, a heterogenous mass was found at the distal pancreas. The patient underwent en-block distal pancreatectomy with splenectomy with the presumptive diagnosis of cystic neoplasm of the pancreas. The tumor was well-circumscribed, encapsulated, 5.5 cm in the greatest dimension and showed typical papillary and pseudopapillary structures. Capsular invasion was seen on focal areas. The patient was not given any adjuvant therapy and shows no sign of disease after six months follow-up. It is important to differentiate this tumor from other pancreatic neoplasms because this neoplasm is amenable to cure after complete surgical resection even in cases with capsular invasion, unlike malignant tumors of the pancreas.

Fighting a rare central nervous system tumor with research and optimism | Center for Cancer Research

Cancer.gov

In January 2016, Sarah Rosenfeld had such severe pain shooting down her legs she couldn’t walk, sleep or care for her young daughters. After weeks of physical therapy for what she thought was sciatica, she had an MRI. Thirty-seven-year-old Rosenfeld learned she had something far worse: myxopapillary ependymoma, a rare cancerous tumor in her spinal cord. She came to the NIH for

Pelvic confined idiopathic retroperitoneal fibrosis mimicking a large tumor.

PubMed

Salemis, N S; Tsiambas, E; Tsohataridis, E

2009-01-01

Idiopathic retroperitoneal fibrosis (IRF) entirely confined to the pelvic cavity is an extremely rare clinical entity. Herein, is described the case of a 36- year old male who presented with clinical and imaging manifestations of a large pelvic tumor. Exploratory laparotomy revealed a large mass in the right pelvis originating from the retroperitoneal space, displacing the right iliac vessels, the right ureter and the urinary bladder completely to the left. A laborious resection of the mass measuring 14 x 10cm was performed. Histopathological examination and detailed immunohistochemistry analysis were suggestive of idiopathic retroperitoneal fibrosis with no evidence of malignancy. This is a very rare case regarding localization and clinical presentation of idiopathic retroperitoneal fibrosis. We conclude that IRF should be included in the differential diagnosis of patients presenting with a pelvic mass even if there is no involvement of the typical para aortic area.

Nasal Septal Angiofibroma in a Post-Menopausal Woman: A Rare Entity

PubMed Central

Dayana, Farah; Fadzilah, Fazalina Mohd; Gendeh, Balwant Singh

2015-01-01

Juvenile angiofibromas (JAs) are well-characterised in literature, arising typically in the posterolateral wall of the nasal cavity of young males. Numerous theories have been proposed to explain the occurrence of this unique and rare tumour. Angiofibromas originating in other sites within the head and neck have been described but this is exceedingly rare, constituting less than 2% of all diagnosed cases. Extranasopharyngeal angiofibroma is a rare lesion, and more importantly, controversial. It is not known whether it is actually a relative of the well-known JA that is seen exclusively in adolescent males. We present the case of a post-menopausal woman with unilateral nasal obstruction who was unexpectedly diagnosed as nasal septal angiofibroma. PMID:26816925

Bulbar conjunctival sporotrichosis presenting as a salmon-pink tumor.

PubMed

Kashima, Tomoyuki; Honma, Rika; Kishi, Shoji; Hirato, Junko

2010-05-01

To report a patient with bulbar conjunctival sporotrichosis presenting as a salmon-pink tumor. This was an interventional case report. A 62-year-old woman presented with conjunctival injection in her left eye. Despite administration of topical dexamethasone sodium, ofloxacin, and levocabastine hydrochloride, her symptoms failed to improve and she was referred to us. Four weeks after referral to us, the patient gradually developed conjunctival injection in both eyes and a salmon-pink tumor in the bulbar conjunctiva of the left eye. Excision biopsy was performed and pathologic examination revealed an epithelioid granuloma with microabscesses and infiltration of plasma cells with yeast-like spherules. A sporotrichin intradermal test was strongly positive. Based on a diagnosis of sporotrichosis, we treated her with topical fluconazole 0.2% in both eyes and oral potassium iodide (450 mg). The bilateral conjunctival injection and subconjunctival tumor in the left eye gradually resolved and had completely disappeared after 3 months of treatment. This is the first report of bulbar conjunctival sporotrichosis with a salmon-pink conjunctival tumor. Although rare, ophthalmologists should be aware of this entity during examination of patients with intractable conjunctival injection.

Pulmonary epidermoid carcinoma in a patient with acromegaly: a rare entity

PubMed Central

El Aziz, Siham; Chadli, Asma; Obbiba, Atika; El Ghomari, Hassan; Farouqi, Ahmed

2012-01-01

A 56-years-old woman was referred to our unit for partially treated acromegaly. She had a high level of insulin growth factor. She did not complain of any pulmonary symptoms and was a non-smoker. Physical examination revealed clinical features of acromegaly. She had a 13 mm pituitary adenoma and was proposed for surgical intervention. Her chest X-ray showed a right paracardiac tumor. Computed tomography scan revealed a large right-sided fowler tumor. Pituitary surgery was cancelled and lobectomy after biopsy with lymph nodes excision was performed through thoracotomy. Histological study of the tumor revealed a medium differentiated epidermoid carcinoma with positive lymph nodes and extension to pleura. She was referred to chemotherapy protocol. Association between carcinoma and acromegaly has previously been reported. Most common tumors are colorectal and thyroid neoplasia. As we see in this case report, we need to consider other carcinomas in acromegalic patients like pulmonary carcinoma, despite their rarity in women. PMID:22891085

Cellular solitary fibrous tumor (hemangiopericytoma) with anaplasia at cerebellopontine angle--a case report.

PubMed

Zeng, Jianying; Ogera, Patricia; Benardete, Ethan A; Nicastri, Anthony D; Rao, Chandrakant

2012-08-15

Cellular solitary fibrous tumor is currently considered a synonym for hemangiopericytoma, as it became increasingly clear that the morphological and immunohistochemical features that separate these two entities have become tenuous, and evidence for a unifying concept has emerged. Furthermore, as no evidence of pericytic differentiation is given in most cases of hemangiopericytoma, this diagnostic term is waning in popularity. We present here a case of cellular solitary fibrous tumor in a 22-year-old man. Neuroimaging revealed a right cerebellopontine angle tumor. Most of the tumor was cellular although some less cellular areas were seen. Sinusoidally dilated large vessels, including staghorn type, were seen. Nuclear pleomorphism and increased mitotic activity (5 mitosis/10 high power field) were regarded as evidence of anaplasia. Diffuse CD34 immunoreactivity and focal positivity for Factor XIIIa were seen in the tumor, which was negative for EMA and S100. The tumor also displayed rich reticulin network. Solitary fibrous tumor at cerebellopontine angle is rare, and 20 such cases (five reported as hemangiopericytoma) have been reported in the English literature. Copyright © 2012 Elsevier GmbH. All rights reserved.

Intravascular Papillary Endothelial Hyperplasia (Masson’s Tumor) of the Radial Artery: A Case Report

DOE Office of Scientific and Technical Information (OSTI.GOV)

Stark, Christopher, E-mail: Christopher.stark@uvmhealth.org; Olsen, Daniel; Morris, Christopher

Intravascular papillary endothelial hyperplasia (IPEH), often referred to as Masson’s tumor, is a benign non-neoplastic vascular lesion of the skin and subcutaneous tissues. Although it is rare, knowledge of the existence of IPEH is important as it can mimic other benign and malignant tumors, most notably angiosarcoma. IPEH remains an incompletely understood entity; however, most consider it to be the result of reactive endothelial proliferation following thrombus formation within a vessel, vascular malformation, or adjacent to a vessel. In this article, we report a case of IPEH arising within an arteriovenous malformation of the radial artery and present accompanying multimodalitymore » imaging and pathology figures. We will also describe the clinical presentation, pathophysiology, histology, imaging features, and management of IPEH.« less

Urachal Tumor: A Case Report of an Extremely Rare Carcinoma.

PubMed

Palla Garcia, José; Sampaio, Rita; Peixoto, Carlos

2017-01-01

The urachus is a tubular structure that connects the bladder to the allantois in the embryonic development, involuting after the third trimester. The urachus carcinoma is an extremely rare tumor that accounts for <1% of all bladder cancers. We report a case of a 46-year-old woman, with no past medical history, complaining of hematuria with 6-month duration and a physical exam and an abdominal computed topographic scan revealing an exophytic mass of 6.8 cm longer axis that grew depending on the anterior bladder wall, invading the anterior abdominal wall. Cystoscopy detected mucosal erosion. The biopsy showed structures of adenocarcinoma of enteric type. The surgical specimen showed urachus adenocarcinoma of enteric type with stage IVA in the Sheldon system and stage III in the Mayo system. This case has a 3-year follow-up without disease recurrence.

Adult cystic nephroma and mixed epithelial and stromal tumor of the kidney are the same disease entity: molecular and histologic evidence.

PubMed

Zhou, Ming; Kort, Eric; Hoekstra, Philip; Westphal, Michael; Magi-Galluzzi, Cristina; Sercia, Linda; Lane, Brian; Rini, Brian; Bukowski, Ronald; Teh, Bin T

2009-01-01

Adult cystic nephroma (CN) and mixed epithelial and stromal tumor of the kidney (MEST) are considered as separate entities in the 2004 World Health Organization classification of renal neoplasms. Recent studies suggested that the two share clinicopathologic features and may represent the same disease process of varying morphology. However, definitive genetic evidence is lacking. We examined their relationship using gene expression profiling and histologic analysis. Gene expression profiles of 3 CN and 3 MEST were analyzed using HGU133 Plus 2.0 microarrays (Affymetrix) and were compared with each other and also with 48 other renal tumors and 13 normal kidneys. Histologic examination of 26 CN and 13 MEST focused on the cystic septal thickness, cyst-to-stroma ratio, stromal cellularity and composition, types of epithelial cells lining cysts and glands, and estrogen and progesterone receptors expression. Patients' age, sex distribution, and tumor size were similar between the two. They also shared many histologic features, including lining epithelium of cysts and glands, stromal cellularity and composition. Unsupervised clustering of mRNA expression profiles demonstrated that they had very similar expression profiles that were distinct from other renal tumors. By microarray analysis, progesterone receptor expression was significantly higher in CN and MEST relative to both normal and other renal tumors, while estrogen receptor expression was not. By immunohistochemistry, expression of both receptors was similar between CN and MEST. This study provides the most convincing molecular evidence that CN and MEST represent different parts of the morphologic spectrum of the same disease.

Sinus Tumors

MedlinePlus

... Tumors Nasal Deformities Choanal Atresia Epiphora (Excessive Tearing) Disclosure Statement Printer Friendly Sinus Tumors Abtin Tabaee, MD Introduction Tumors of the nose and paranasal sinuses are rare, accounting for fewer than 1% of all tumors. These ...

Cryptococcoma mimicking a brain tumor in an immunocompetent patient: case report of an extremely rare presentation.

PubMed

Paiva, Aline Lariessy Campos; Aguiar, Guilherme Brasileiro de; Lovato, Renan Maximilian; Zanetti, Arthus Vilar Deolindo; Panagopoulos, Alexandros Theodoros; Veiga, José Carlos Esteves

2017-11-06

Central nervous system (CNS) infectious diseases have high prevalence in developing countries and their proper diagnosis and treatment are very important for public health planning. Cryptococcus neoformans is a fungus that may cause several CNS manifestations, especially in immunocompromised patients. Cryptococcal meningitis is the most common type of involvement. Mass-effect lesions are uncommon: they are described as cryptococcomas and their prevalence is even lower among immunocompetent patients. The aim here was to report an extremely rare case of cryptococcoma causing a mass effect and mimicking a brain tumor in an immunocompetent patient. The literature on CNS cryptococcal infections was reviewed with emphasis on cryptococcomas. Clinical, surgical and radiological data on a female patient with this rare presentation of cryptococcoma mimicking a brain tumor are described. A 54-year-old female patient presented to the emergency department with a rapid-onset progressive history of confusion and completely dependency for basic activities. Neuroimaging showed a left occipital lesion and neurosurgical treatment was proposed. From histopathological evaluation, a diagnosis of cryptococcoma was established. She received clinical support with antifungals, but despite optimal clinical treatment, her condition evolved to death. Cryptococcal infections have several forms of presentation and, in immunocompetent patients, their manifestation may be even more different. Cryptococcoma is an extremely rare presentation in which proper surgical and clinical treatment should be instituted as quickly as possible, but even so, there is a high mortality rate.

Malignant Perivascular Epithelioid Cell Tumor (PEComa) of the Adrenal Gland: Report of a Rare Case Posing Diagnostic Challenge with the Role of Immunohistochemistry in the Diagnosis.

PubMed

Pant, Leela; Kalita, Dipti; Chopra, Ratna; Das, Abhijit; Jain, Gaurav

2015-05-01

Histological diagnosis of adrenal tumors is often challenging as diverse groups of tumors, both primaries and metastatic, may be seen in the adrenal gland with overlapping morphological features. Immunohistochemistry (IHC) plays the most important role in their diagnosis. Perivascular epithelioid cell tumor (PEComa), a rarely reported tumor in the adrenal gland, shares many features with another rare tumor sarcomatoid adrenocortical carcinoma (ACC). Extensive immunohistochemical study is required to distinguish this tumor from adrenocortical carcinoma and from other morphologically similar tumors. The unique combination of immunoreactivity for melanocytic markers, such as HMB-45 and Melan A, and myogenic markers, such as smooth muscle actin, is the hallmark of PEComas biological behavior, and prognosis of malignant PEComas is yet to be fully understood. Few cases of malignant PEComa have been reported in the adrenal gland. We report a case of malignant PEComa of the adrenal gland posing diagnostic challenge and compare its morphological and immunohistochemical features with those of sarcomatoid ACC.

Residential proximity to environmental pollution sources and risk of rare tumors in children.

PubMed

García-Pérez, Javier; Morales-Piga, Antonio; Gómez-Barroso, Diana; Tamayo-Uria, Ibon; Pardo Romaguera, Elena; López-Abente, Gonzalo; Ramis, Rebeca

2016-11-01

Few epidemiologic studies have explored risk factors for rare tumors in children, and the role of environmental factors needs to be assessed. To ascertain the effect of residential proximity to both industrial and urban areas on childhood cancer risk, taking industrial groups into account. We conducted a population-based case-control study of five childhood cancers in Spain (retinoblastoma, hepatic tumors, soft tissue sarcomas, germ cell tumors, and other epithelial neoplasms/melanomas), including 557 incident cases from the Spanish Registry of Childhood Tumors (period 1996-2011), and 3342 controls individually matched by year of birth, sex, and region of residence. Distances were computed from the residences to the 1271 industries and the 30 urban areas with ≥75,000 inhabitants located in the study area. Using logistic regression, odds ratios (ORs) and 95% confidence intervals (95%CIs) for categories of distance to industrial and urban pollution sources were calculated, with adjustment for matching variables and socioeconomic confounders. Children living near industrial and urban areas as a whole showed no excess risk for any of the tumors analyzed. However, isolated statistical associations (OR; 95%CI) were found between retinoblastoma and proximity to industries involved in glass and mineral fibers (2.49; 1.01-6.12 at 3km) and organic chemical industries (2.54; 1.10-5.90 at 2km). Moreover, soft tissue sarcomas registered the lower risks in the environs of industries as a whole (0.59; 0.38-0.93 at 4km). We have found isolated statistical associations between retinoblastoma and proximity to industries involved in glass and mineral fibers and organic chemical industries. Copyright © 2016 Elsevier Inc. All rights reserved.

Laparoscopic Treatment of Mixed Malignant Ovarian Germ Cell Tumor in a 16-Year-Old Female Adolescent.

PubMed

Friedman, Caroline; Fenster, Tamatha

2016-12-01

Malignant ovarian germ cell tumors are rare entities, although they account for a large proportion of ovarian masses in young women. These tumors have traditionally been removed via laparotomy, because of their large size and solid nature. The use of laparoscopy for treatment of adnexal masses in adolescents has been heavily debated and poorly studied to date. A 16-year-old female patient presented with abdominal pain and an 11-cm adnexal mass on ultrasound. An emergent laparoscopic salpingo-oophorectomy was performed without complication. Pathology revealed a mixed malignant ovarian germ cell tumor. Laparoscopic fertility-sparing surgery offers many benefits over laparotomy, and should be considered in cases of young women with large adnexal masses, even if potential for malignancy exists. Copyright © 2016 North American Society for Pediatric and Adolescent Gynecology. Published by Elsevier Inc. All rights reserved.

A meta-analysis of HLA peptidome composition in different hematological entities: entity-specific dividing lines and “pan-leukemia” antigens

PubMed Central

Walz, Simon; Schuster, Heiko; Berlin, Claudia; Neidert, Marian Christoph; Schemionek, Mirle; Brümmendorf, Tim H.; Vucinic, Vladan; Niederwieser, Dietger; Kanz, Lothar; Salih, Helmut Rainer; Kohlbacher, Oliver; Weisel, Katja; Rammensee, Hans-Georg; Stevanović, Stefan; Walz, Juliane Sarah

2017-01-01

Hematological malignancies (HM) are highly amenable targets for immunotherapeutic intervention and may be effectively treated by antigen-specific T-cell based treatment. Recent studies demonstrate that physiologically occurring anti-cancer T-cell responses in certain HM entities target broadly presented non-mutated epitopes. HLA ligands are thus implied as prime targets for broadly applicable and antigen-specific off-the-shelf compounds. With the aim of assessing the presence of common targets shared among different HM which may enable addressing a larger patient collective we conducted a meta-analysis of 83 mass spectrometry-based HLA peptidome datasets (comprising 40,361 unique peptide identifications) across four major HM (19 AML, 16 CML, 35 CLL, and 13 MM/MCL samples) and investigated similarities and differences within the HLA presented antigenic landscape. We found the cancer HLA peptidome datasets to cluster specifically along entity and lineage lines, suggesting that the immunopeptidome directly reflects the differences in the underlying (tumor-)biology. In line with these findings, we only detected a small set of entity-spanning antigens, which were predominantly characterized by low presentation frequencies within the different patient cohorts. These findings suggest that design of T-cell immunotherapies for the treatment of HM should ideally be conducted in an entity-specific fashion. PMID:28159928

Tumor-associated FGF-23-induced hypophosphatemic rickets in children: a case report and review of the literature.

PubMed

Burckhardt, Marie-Anne; Schifferli, Alexandra; Krieg, Andreas H; Baumhoer, Daniel; Szinnai, Gabor; Rudin, Christoph

2015-01-01

Tumor-associated fibroblast growth factor 23 (FGF-23)-induced hypophosphatemic rickets is a rare but known pediatric entity first described in 1959. It results from local production of phosphatonins by benign and malignant mesenchymal tumors. We report an 8-year-old boy with tumor-associated hypophosphatemic rickets due to paraneoplastic FGF-23 secretion from a benign mesenchymal pelvic-bone tumor. Excessive FGF-23 production was visualized by immunohistochemistry in the resected tumor. Phosphate wasting stopped immediately after tumor resection. We reviewed 26 reports of pediatric patients with tumor-induced hypophosphatemic rickets; paraneoplastic FGF-23 secretion was documented in only three of them. All tumors developed inside bone, were benign in 21/26 cases, and were localized in femur/tibia (13/26), radius/ulna/humerus (7/26), pelvis (4/26), rib (1/26), and craniofacial (1/26) bones. Mean interval between onset of signs and/or symptoms and diagnosis was 34 months. In patients with hypophosphatemic rickets acquired beyond infancy, radiologic investigations for bone tumors need to be performed rapidly. In contrast to biochemical screening for increased circulating FGF-23 levels, immunohistochemical confirmation of FGF-23 production in resected tumor tissue can be regarded as being well established.

Warthin tumor within the superficial lobe of the parotid gland: a suggested criterion for diagnosis.

PubMed

Sagiv, Doron; Witt, Robert L; Glikson, Eran; Mansour, Jobran; Shalmon, Bruria; Yakirevitch, Arkadi; Wolf, Michael; Alon, Eran E; Slonimsky, Guy; Talmi, Yoav P

2017-04-01

The location of Warthin tumor (WT) in the parotid gland impacts the surgical approach and may be indicative of the elusive origin of this intriguing entity. Location in the deep versus superficial lobe of the gland is not directly addressed when defining WT characteristics. Our observation, of rare occurrence of deep lobe WT, if at all, led to the current investigation. The study design is cohort study. This is a retrospective chart review of all patients undergoing parotidectomy for WT in two tertiary academic referral centers: the Sheba Medical Center (SMC), Israel, and the Christiana Care (CC), Newark, Delaware, USA. 122 consecutive adult patients underwent parotidectomy for WT (72 from SMC and 50 from CC). Seventy percent were males, with a mean age of 60.6 years. Bilateral WT or multi-centric WT were found in 9.8 and 17.2% of the cases, respectively. In one case, the tumor was described as originating in the deep lobe. In all other cases, the tumor originated and was limited to the superficial lobe. 99.2% of WT originated in the superficial lobe, corresponding with the few reports directly addressing its location in the gland. The reason for the tumor to be limited almost uniformly to the superficial lobe is unknown, and could be related to the etiopathogenesis of this elusive entity. We suggest adding tumor location within the superficial lobe to the common characteristics of WT (male, smoking, and lower pole) that serve as "common criterion" while evaluating a parotid lesion.

Uterine lipoma with a coincidental brenners tumor in the ovary in postmenopausal women: A case report.

PubMed

Khatib, Yasmeen; Patel, Richa D; Dande, Madhura

2015-01-01

Pure uterine lipoma is a rare entity with only a few cases having been reported in the literature. They usually develop in postmenopausal woman and are mistaken for leiomyomas both clinically and on ultrasound examination. Magnetic resonance imaging (MRI) is the best modality for its preoperative diagnosis. Uterine lipoma has been reported in association with other lesions like endometrial carcinoma, cervical carcinoma and struma ovarii. We present a case of pure lipoma of the uterus with a coincidental benign brenners tumor of the ovary in a 60-year-old female. Patient presented with pain in the abdomen and a preoperative diagnosis of leiomyoma was made based on ultrasonography findings. Gross examination revealed a fatty tumor with a nodule in the right ovary. Microscopy confirmed the presence of pure uterine lipoma with a co-existent brenners tumor of the ovary. To the best of our knowledge this is the first case of uterine lipoma to be reported in association with ovarian brenners tumor.

The fourth branchial complex anomaly: a rare clinical entity.

PubMed

Patel, Alpen B; Hinni, Michael L

2011-01-01

Fourth branchial pouch anomalies are rare congenital disorders of the neck and are a consequence of abnormal development of the branchial apparatus during embryogenesis. Failure to appropriately recognize these anomalies may result in misdiagnosis, insufficient treatment, and continued recurrence. Here, we present an unique presentation of two cases, describe their diagnosis, clinical course, and management, and review the literature regarding these interesting anomalies.

Primitive myxoid mesenchymal tumor of infancy in a preterm infant.

PubMed

Lam, Joseph; Lara-Corrales, Irene; Cammisuli, Salvatore; Somers, Gino R; Pope, Elena

2010-01-01

Primitive myxoid mesenchymal tumor of infancy is a recently recognized entity that has been added to the differential diagnosis of myxoid tumors of the soft tissue. Few cases have been reported of this entity in the literature, but none presenting in a preterm infant. We present the case and clinical course of a preterm boy with a primitive myxoid mesenchymal tumor of infancy that occurred following excision of a congenital juvenile xanthogranuloma. © 2010 Wiley Periodicals, Inc.

Glial tumors with neuronal differentiation.

PubMed

Park, Chul-Kee; Phi, Ji Hoon; Park, Sung-Hye

2015-01-01

Immunohistochemical studies for neuronal differentiation in glial tumors revealed subsets of tumors having both characteristics of glial and neuronal lineages. Glial tumors with neuronal differentiation can be observed with diverse phenotypes and histologic grades. The rosette-forming glioneuronal tumor of the fourth ventricle and papillary glioneuronal tumor have been newly classified as distinct disease entities. There are other candidates for classification, such as the glioneuronal tumor without pseudopapillary architecture, glioneuronal tumor with neuropil-like islands, and the malignant glioneuronal tumor. The clinical significance of these previously unclassified tumors should be confirmed. Copyright © 2015 Elsevier Inc. All rights reserved.

PTCH1 Germline Mutations and the Basaloid Follicular Hamartoma Values in the Tumor Spectrum of Basal Cell Carcinoma Syndrome (NBCCS).

PubMed

Ponti, Giovanni; Manfredini, Marco; Pastorino, Lorenza; Maccaferri, Monia; Tomasi, Aldo; Pellacani, Giovanni

2018-01-01

Nevoid basal cell carcinoma syndrome (NBCCS) is an autosomal dominantly inherited disorder characterized by multiple basal cell carcinomas (BCC), odontogenic tumors and various skeletal anomalies. Basaloid follicular hamartomas (BFHs) constitute rare neoplasms that can be detected in sporadic and familial settings as in the Basaloid Follicular Hamartoma Syndrome (BFHS). Although BFHS shares clinical, histopathological and genetic overlapping with the NBCCS, they are still considered two distinctive entities. The aim of our single-institution study was the analysis of a cohort of PTCH1-mutated patients in order to define clinical and biomolecular relationship between NBCCS and BFHs. In our study we evaluated PTCH1 gene-carrier probands affected by NBCCS to detect the incidence of BFHs and their correlation with this rare syndrome. Among probands we recognized 4 patients with BFHs. We found 15 germline PTCH1 mutations, uniformly distributed across the PTCH1 gene. Six of them had familial history of NBCCS, two of them were novel and have not been described previously. NBCCS and BFHS may be the same genetic entity and not two distinctive syndromes. The inclusion of BFH in the NBCCS cutaneous tumor spectrum might be useful for the recognition of misdiagnosed NBCCS cases that could benefit from tailored surveillance strategies. Copyright© 2018, International Institute of Anticancer Research (Dr. George J. Delinasios), All rights reserved.

The Fourth Branchial Complex Anomaly: A Rare Clinical Entity

PubMed Central

Patel, Alpen B.; Hinni, Michael L.

2011-01-01

Fourth branchial pouch anomalies are rare congenital disorders of the neck and are a consequence of abnormal development of the branchial apparatus during embryogenesis. Failure to appropriately recognize these anomalies may result in misdiagnosis, insufficient treatment, and continued recurrence. Here, we present an unique presentation of two cases, describe their diagnosis, clinical course, and management, and review the literature regarding these interesting anomalies. PMID:22937376

Round Cell Tumors: Classification and Immunohistochemistry.

PubMed

Sharma, Shweta; Kamala, R; Nair, Divya; Ragavendra, T Raju; Mhatre, Swapnil; Sabharwal, Robin; Choudhury, Basanta Kumar; Rana, Vivek

2017-01-01

Round cell tumors as the name suggest are comprised round cells with increased nuclear-cytoplasmic ratio. This group of tumor includes entities such as peripheral neuroectodermal tumor, rhabdomyosarcoma, synovial sarcoma, non-Hodgkin's lymphoma, neuroblastoma, hepatoblastoma, Wilms' tumor, and desmoplastic small round cell tumor. These round cells tumors are characterized by typical histological pattern, immunohistochemical, and electron microscopic features that can help in differential diagnosis. The present article describes the classification and explains the histopathology and immunohistochemistry of some important round cell tumors.

Spontaneous Rupture of Adenocarcinoma of Meckel’s Diverticulum- A Rare Entity

PubMed Central

2015-01-01

Meckel’s diverticulum is a true diverticulum from remnant of vitelline duct. It is most common congenital anomaly of intestine. It is associated with intestinal atresia and anorectal anomalies. It contains heterotrophic epithelium. Most common heterotrophic mucosa is gastric followed by pancreatic tissue. Adenocarcinoma arising from Meckel’s diverticulum is very rare. Spontaneous perforation of adenocarcinoma rarely reported. Most of perforation reported in Meckel’s diverticulum diagnosed during intraoperative period. This is a case report of spontaneous rupture of adenocarcinoma of Meckel’s diverticulum, which was managed with primary resection and ileostomy. PMID:26672729

Metastatic thyroid carcinoma without identifiable primary tumor within the thyroid gland: a retrospective study of a rare phenomenon.

PubMed

Xu, Bin; Scognamiglio, Theresa; Cohen, Perry R; Prasad, Manju L; Hasanovic, Adnan; Tuttle, Robert Michael; Katabi, Nora; Ghossein, Ronald A

2017-07-01

Metastatic papillary thyroid carcinoma (PTC) without an identifiable primary tumor despite extensive microscopic examination of the thyroid gland is a rare but true phenomenon.We retrieved 7 of such cases and described in detail the clinical and pathologic features of these tumors. BRAF V600E immunohistochemistry and Sequenom molecular profile were conducted in selected cases. All patients harbored metastatic disease in the central (n=3), lateral (n=3), or both neck compartments (n=1). The histotype of the metastatic disease was PTC (n=5), poorly differentiated thyroid carcinoma in association with a PTC columnar variant (n=1), and anaplastic thyroid carcinoma in association with a PTC tall cell variant (n=1). Fibrosis was present in the thyroid of 5 patients. All patients with PTC were alive without evidence of recurrence. The 76-year-old patient with poorly differentiated thyroid carcinoma did not recur and died of unknown causes. Finally, the patient with anaplastic thyroid carcinoma was alive with distant metastasis at last follow-up. The median follow-up for this cohort was 2.2years (range, 0.8-17). BRAF V600E was detected in 4 of 6 cases by immunohistochemistry. In conclusion, metastatic nodal disease without identifiable thyroid primary is a rare but real phenomenon of unknown mechanisms. Although most tumors are low grade and well differentiated, aggressive behavior due to poorly differentiated or anaplastic carcinoma can happen. Most cases are BRAF V600E -positive thyroid tumors. A papillary carcinoma phenotype is found in all reported cases. Copyright © 2017 Elsevier Inc. All rights reserved.

[Cystic renal neoplasms. New entities and molecular findings].

PubMed

Moch, H

2010-10-01

Renal neoplasms with dominant cysts represent a broad spectrum of known as well as novel renal tumor entities. Established renal tumors with dominant cysts include cystic nephroma, mixed epithelial and stromal tumor, synovial sarcoma and multilocular cystic renal cancer (WHO classification 2004). Novel tumor types have recently been reported, which are also characterized by marked cyst formation. Examples are tubulocystic renal cancer and renal cancer in end-stage renal disease. These tumors are very likely to be included in a future WHO classification due to their characteristic phenotype and molecular features. Cysts and clear cell renal cell carcinoma frequently coexist in the kidneys of patients with von Hippel-Lindau disease. Cysts are also a component of many sporadic clear cell renal cell carcinomas. Multilocular cystic renal cell carcinoma is composed almost exclusively of cysts and is regarded as a specific subtype of clear cell renal cancer. Recent molecular findings suggest that clear cell renal cancer may develop via a cyst-dependent mechanism in von Hippel-Lindau syndrome as well as via cyst-independent molecular pathways in sporadic clear cell renal cancer.

The lipoma of tongue - A rare site for a tumor: Case report and review of the literature

PubMed Central

Baonerkar, Hemant A.; Vora, Meena; Sorathia, Rakesh; Shinde, Swapnil

2015-01-01

Lipoma is the most common tumor of the human body, but their presences in the oral cavity are very rare. Reported cases of lipoma of tongue in English literature are very few. Here, we report a case of lipoma of tongue in 63-year-old male patient, with its clinical presentation, the histological picture, classification, and brief review of the literature. PMID:26752882

Preclinical Comparison of Albumin-Binding Radiofolates: Impact of Linker Entities on the in Vitro and in Vivo Properties.

PubMed

Siwowska, Klaudia; Haller, Stephanie; Bortoli, Francesca; Benešová, Martina; Groehn, Viola; Bernhardt, Peter; Schibli, Roger; Müller, Cristina

2017-02-06

Tumor targeting with folic acid radioconjugates has been proposed as a promising strategy for radionuclide therapy of folate receptor α (FR)-positive cancer. Recently, it was shown that modification of radiofolates with an albumin-binding entity increased the tumor-to-kidney ratios of accumulated radioactivity in mice. The goal of this study was to evaluate the lead compound cm10 and compare it with new albumin-binding folate conjugates. Compound cm12 was designed with a long spacer consisting of a PEG-11 entity, and compound cm13 contained a short alkane chain between the albumin-binding moiety and folic acid. All of the derivatives were labeled with 177 Lu (t 1/2 = 6.65 days, E β - ,average = 134 keV; E γ = 113 keV, 208 keV), a clinically established radionuclide for therapeutic purposes. The evaluation revealed that all of the albumin-binding radiofolates exhibited increased in vitro stability compared with the reference compound ( 177 Lu-cm14) without albumin binder. Serum protein binding, determined with an ultrafiltration assay, was high (>88%) for the derivatives with albumin-binding entities. The FR-binding affinity was in the same range (K D = 4.0-7.5 nM) for all of the radiofolates, independent of the albumin-binding entity and spacer length. FR-specific uptake was proven in vitro using FR-positive KB tumor cells. In vivo studies with KB-tumor-bearing mice were performed in order to assess the tissue distribution profile of the novel radiofolates. 177 Lu-cm13 showed high tumor uptake at late time points (13.3 ± 2.94% IA/g, 48 h p.i.) and tumor-to-kidney ratios (0.59 ± 0.03, 48 h p.i.) in the same range as 177 Lu-cm10 (0.55 ± 0.07, 48 h p.i.). However, the tumor-to-kidney ratio of 177 Lu-cm12 (0.28 ± 0.07, 48 h p.i.) was reduced compared with 177 Lu-cm10 and 177 Lu-cm13. The results of this study indicate that the spacer entity between folic acid and the albumin binder is of critical importance with regard to the tissue distribution profile of the

Renal Cell Carcinoma Associated with Xp11.2 Translocation/TFE3 Gene Fusion: A Rare Case Report with Review of the Literature.

PubMed

Ahluwalia, Puneet; Nair, Balagopal; Kumar, Ginil

2013-01-01

Introduction. The recently recognized renal cell carcinomas associated with Xp11.2 translocations are rare tumors predominantly reported in children. Chromosome Xp11.2 translocation results in gene fusion related to transcription factor E3 (TFE3) that plays an important role in proliferation and survival. Case Report. Herein, we present two cases of a TFE3 translocation-associated RCC in young female adults, one detected incidentally and the other one presenting with gross hematuria. Tumor is characterized by immunohistochemistry and a literature review with optimal treatment regimen is presented. Discussion. Xp11.2 translocation RCCs in adult patients are associated with advanced stages, large tumors, and extracapsular disease and usually have an aggressive clinical course. Conclusion. In TFE3 RCC, the genetic background may not only contribute to tumorigenesis, but also determine the response to chemotherapy and targeted therapy. Therefore it is necessary to diagnose this tumor entity accurately. Because of the small number of TFE3 gene fusion-related renal tumors described in the literature, the exact biologic behavior and impact of current treatment modalities remain to be uncertain.

Renal Cell Carcinoma Associated with Xp11.2 Translocation/TFE3 Gene Fusion: A Rare Case Report with Review of the Literature

PubMed Central

Ahluwalia, Puneet; Nair, Balagopal; Kumar, Ginil

2013-01-01

Introduction. The recently recognized renal cell carcinomas associated with Xp11.2 translocations are rare tumors predominantly reported in children. Chromosome Xp11.2 translocation results in gene fusion related to transcription factor E3 (TFE3) that plays an important role in proliferation and survival. Case Report. Herein, we present two cases of a TFE3 translocation-associated RCC in young female adults, one detected incidentally and the other one presenting with gross hematuria. Tumor is characterized by immunohistochemistry and a literature review with optimal treatment regimen is presented. Discussion. Xp11.2 translocation RCCs in adult patients are associated with advanced stages, large tumors, and extracapsular disease and usually have an aggressive clinical course. Conclusion. In TFE3 RCC, the genetic background may not only contribute to tumorigenesis, but also determine the response to chemotherapy and targeted therapy. Therefore it is necessary to diagnose this tumor entity accurately. Because of the small number of TFE3 gene fusion-related renal tumors described in the literature, the exact biologic behavior and impact of current treatment modalities remain to be uncertain. PMID:24455396

Giant Cell Tumor of Cervical Spine Presenting as Acute Asphyxia: Successful Surgical Resection After Down-Staging With Denosumab.

PubMed

Kumar, Rajendra; Meis, Jeanne M; Amini, Behrang; McEnery, Kevin W; Madewell, John E; Rhines, Laurence D; Benjamin, Robert S

2017-05-15

Case report and literature review. To describe treatment of a unique case of acute airway obstruction by a large C7 giant cell tumor (GCT) with preoperative denosumab followed by surgical resection, and review the literature on this rare entity. Standard treatment for GCTs includes surgical resection or curettage and packing. Large lesions in the spine may require preoperative therapy with denosumab, a human monoclonal antibody to RANKL, to facilitate surgery. It is highly unusual for GCT arising in cervical spine to present with acute asphyxia (requiring tracheostomy). We report a patient with large C7 GCT that caused tracheal compression with almost complete airway obstruction requiring emergency intubation. The tumor responded to subcutaneously administered denosumab with marked decrease in size and relief of symptoms. Increased tumor mineralization in response to therapy facilitated subsequent successful surgical tumor resection. The patient remains symptom-free 2 years after surgery without tumor recurrence. Denosumab can shrink the size of large GCTs, providing symptom relief before surgery and facilitate tumor resection. 5.

Extraordinarily Large Renal Cell Carcinoma With Metasynchronous Neuroendocrine Tumor of the Ileocecal Valve: A Rare Presentation of Disease.

PubMed

Edwards, Daniel C; Gitman, Robert; May, Noah R; Amster, Melanie I

2017-01-01

A 71-year-old female presented with a large, protuberant abdominal mass, and was found to have both a left renal mass and a biopsy-proven neuroendocrine tumor of the ileocecal valve. Ultimately, right hemicolectomy revealed a well-differentiated and low-grade neuroendocrine tumor of the ileocecal valve, whereas left radical nephrectomy revealed a 23 cm × 22 cm × 15 cm renal cell carcinoma, chromophobe-type (RCC-CT) weighing 3564 g. RCC-CT represents a small portion of diagnosed RCC, and generally portends a more favorable prognosis than other variants. Modern reports of renal tumors exceeding 20 cm are exceedingly rare. In spite of massive size, favorable histology may allow for surgical cure. Copyright © 2016 Elsevier Inc. All rights reserved.

Rare and Unusual Endocrine Cancer Syndromes with Mutated Genes

PubMed Central

Lodish, Maya B.; Stratakis, Constantine A.

2010-01-01

The study of a number of rare familial syndromes associated with endocrine tumor development has led to the identification of genes involved in the development of these tumors. Major advances have been made expanding our understanding of the pathophysiology of these rare endocrine tumors, resulting in the elucidation of causative genes in rare familial diseases and a better understanding of the signaling pathways implicated in endocrine cancers. Recognition of the familial syndrome associated with a particular patient’s endocrine tumor has important implications in terms of prognosis, screening of family members, and screening for associated conditions. PMID:21167385

Herpes zoster infection: a rare cause of acute urinary retention.

PubMed

Chan, Jonathan E; Kapoor, Anil

2003-06-01

Herpes zoster (HZ) infection has been reported as a rare cause of acute urinary retention. HZ infection involving sacral, thoracolumbar, and rarely high thoracic dermatomes is believed to occasionally cause motor and sensory neuropathy of the bladder. This is specifically achieved by the interruption of the detrusor reflex causing subsequent bladder atonia. As the course and management of this entity is quite benign, HZ should remain a diagnostic consideration in the management of urinary retention. We report a case of acute urinary retention of approximately 2.5 liters associated with HZ infection and review the proposed pathogenesis and therapeutic considerations in the management of this entity.

Lack of a Common or Characteristic Cytogenetic Anomaly in Solitary Fibrous Tumor

PubMed Central

Torabi, Alireza; Lele, Subodh M.; DiMaio, Dominick; Pinnt, Jeffrey C.; Hess, Michelle M.; Nelson, Marilu; Bridge, Julia A

2008-01-01

Solitary fibrous tumor is a mesenchymal tumor that was initially described as a pleural-based lesion, but later was discovered in many other locations. The light microscopic appearance of solitary fibrous tumor may overlap with other diagnostic entities; however, consistent tumor cell CD34 immunoreactivity is useful in establishing the diagnosis. Limited data suggest that solitary fibrous tumors are karyotypically diverse; a common or characteristic anomaly has not yet emerged for this entity. In this report, cytogenetic analysis of two solitary fibrous tumors, one peritoneal and the other arising in the liver, revealed predominantly structural abnormalities in the former and numerical imbalances in the latter. Clonal karyotypic abnormalities were lacking in three additional solitary fibrous tumors. PMID:18262056

Enrichment and Detection of Circulating Tumor Cells and Other Rare Cell Populations by Microfluidic Filtration.

PubMed

Pugia, Michael; Magbanua, Mark Jesus M; Park, John W

2017-01-01

The current standard methods for isolating circulating tumor cells (CTCs) from blood involve EPCAM-based immunomagnetic approaches. A major disadvantage of these strategies is that CTCs with low EPCAM expression will be missed. Isolation by size using filter membranes circumvents the reliance on this cell surface marker, and can facilitate the capture not only of EPCAM-negative CTCs but other rare cells as well. These cells that are trapped on the filter membrane can be characterized by immunocytochemistry (ICC) , enumerated and profiled to elucidate their clinical significance. In this chapter, we discuss advances in filtration systems to capture rare cells as well as downstream ICC methods to detect and identify these cells. We highlight our recent clinical study demonstrating the feasibility of using a novel method consisting of automated microfluidic filtration and sequential ICC for detection and enumeration of CTCs, as well as circulating mesenchymal cells (CMCs), circulating endothelial cells (CECs), and putative circulating stem cells (CSCs). We hypothesize that simultaneous analysis of circulating rare cells in blood of cancer patients may lead to a better understanding of disease progression and development of resistance to therapy.

[Tumoral calcinoses in a chronic hemodialysis patient: The role of SPECT/CT hybrid imaging].

PubMed

Matrane, Aboubakr; Hiroual, Soufiane; Bsiss, Mohamed Aziz; Doubli, Safa Bennani

2018-05-01

Tumoral calcinosis is a rare benign disease, defined by the presence of calcified deposits in periarticular tissues. It can be hereditary or secondary at chronic renal failure at the stage of dialysis. This work illustrates the contribution of single-photon emission computed tomography (SPECT/CT) in the diagnosis and management of tumoral calcinoses in a chronic hemodialysis patient, based on a clinical case. A 62-year-old patient, chronic hemodialysis since 24 years, presented a mechanical pain shoulders, knees and hips with limitation of joint mobility. The clinical exam found a mass of soft tissue in the buttocks. The radiological exam showed the presence of periarticular calcifications with no bone involvement. The SPECT/CT revealed a multifocal tumoral calcinosis affecting shoulders, elbows, wrists, hips and knees, associated with alveolar and abdominal calcinosis. Tumoral calcinosis is a distinct clinicopathological entity characterised by periarticular soft tissue calcium deposits. The SPECT/CT is important in the diagnosis, the assessment of extension and monitoring of tumoral calcinosis after treatment. Copyright © 2017 Société francophone de néphrologie, dialyse et transplantation. Published by Elsevier Masson SAS. All rights reserved.

[Inflammatory myofibroblastic tumor of the lymph node with paraneoplastic thrombosis and eosinophilia].

PubMed

Behzad, Ali; Müller, Andrea; Rösler, Wolf; Amann, Kerstin; Linke, Rainer; Mackensen, Andreas

2010-04-01

A 52-year-old female patient was admitted to hospital because of progressive thrombosis despite therapeutic anticoagulation as well as leukocytosis with eosinophilia and thrombocytopenia. On examination, the patient presented with dyspnea and swelling oft her left leg and arm. The laboratory findings revealed leukocytosis (31,000/microl) with eosinophilia (54%), thrombocytopenia (58,000/microl), together with an increased C-reactive protein of 247 mg/dl (reference range < 5 mg/dl). Initial computed tomography scans showed pulmonary embolism and a slightly enlarged left inguinal lymph node. Histological examination of the lymph node biopsy revealed in part an epitheloid and spindle cell-like tumorous lesion with slightly increased tissue eosinophilia consistent with an inflammatory myofibroblastic tumor (IMT). Resection of the left inguinal lymph node resulted in an immediate regression of the paraneoplastic eosinophilia and thrombocytopenia. Anti-inflammatory medication with ibuprofen was subsequently initiated. Imaging and clinical examination at 3 months after discharge revealed no relapse and no signs of a paraneoplastic syndrome. The IMT is a rare soft-tissue tumor of intermediate dignity with a low tendency to metastasize. It is consistently accompanied by paraneoplastic syndromes. Therapy of choice is complete resection of the tumor. In nonresectable cases, corticosteroids and nonsteroidal antirheumatics have been shown to be effective. Because of the variable clinical course ranging from spontaneous regression to metastasis, IMTs might be separated into different entities (autoimmune, inflammatory, neoplastic subtype) which thus far cannot be classified on a histopathologic basis. A clinical assessment of the dignity is therefore important until further subclassifications of this rare disease become available.

Metastatic Urothelial Carcinoma to the Uterine Cervix: A Case Report of a Rare Entity and Review of the Diagnostic Differential.

PubMed

Sams, Sharon B; Rosser, Julie A

2017-09-01

Urothelial carcinoma (UC) rarely metastasizes to the gynecologic tract, occurring in descending order of frequency, within the vagina, uterus, ovaries, and cervix. Significant morphologic overlap exists between primary gynecologic squamous lesions (both benign and malignant) and metastatic UC, thus potentially hindering a timely and accurate diagnosis. We present a case of UC metastatic to the uterine cervix in a 69-year-old female initially found to have noninvasive high-grade papillary UC of the bladder. Complaints of vaginal spotting lead to identification and biopsy of a mass in the uterine cervix. Histologic evaluation of the cervical mass showed a neoplastic proliferation of atypical epithelioid cells arranged in a papillary architecture. The differential in this case included primary uterine cervical tumors such as condyloma acuminatum, immature condyloma, verrucous carcinoma, warty/condylomatous carcinoma, and papillary squamotransitional cell carcinoma, as well as metastatic UC. A careful evaluation of histologic variances and a selective immunohistochemical panel allows differentiation of these tumors. We herein review the subtle, albeit significant, histologic and immunohistochemical differences of the aforementioned lesions.

A systematic review: perivascular epithelioid cell tumor of gastrointestinal tract

PubMed Central

Chen, Zehong; Han, Siqi; Wu, Jialin; Xiong, Minmin; Huang, Yanqiao; Chen, Jianhui; Yuan, Yujie; Peng, Jianjun; Song, Wu

2016-01-01

Abstract Perivascular epithelioid cell tumor (PEComa) is a rare entity with distinctive morphology and of expressing myomelanocytic markers. Gastrointestinal tract (GI) is one of the most common anatomic sites of origin and counts for 20% to 25% of all reported cases of perivascular epithelioid cell tumors not otherwise specified (PEComas-NOS). However, the biologic behavior of perivascular epithelioid cell tumors of gastrointestinal tract (GI PEComas-NOS) is still unclear. The aim of conducting this systematic review is to sum up what is known so far of the epidemiology, natural history, management and prognosis of GI PEComas-NOS. A systematic research was performed on PubMed and EMBASE using the following terms: (“perivascular epithelioid cell tumor” or “PEComa”) and (“gastrointestinal tract” or “GI” or “oral ” or “mouth” or “esophagus” or “gullet” or “gastric” or “stomach” or “duodenum” or “jejunum” or “ileum” or “cecum” or “colon” or “colorectal” or “sigmoid” or “rectum” or “anus” or “mesentery”) up to December 1, 2015. Retrieved GI PEComas-NOS publications, which included these terms, contains case reports, case series to case characteristic researches. A total of 168 articles were reviewed, 41 GI PEComa-NOS English studies among which were retrieved for analysis. We reviewed epidemiology, natural history, management and prognosis of GI PEComa-NOS. Generally GI PEComa-NOS is believed to have women predomination. The most frequently involved location is colon with non-specific clinical signs. Pathologically, GI PEComas-NOS shows epithelioid predominance (70%), meanwhile coexpresses melanocytic and muscle markers characteristically, while immunohistochemistry is a useful tool for identify, which indicates that HMB-45 is regarded as the most sensitive reagent. Complete resection served as mainstay of treatment, while chemotherapy should be unanimously considered to apply in malignant

Epithelioid PEComa (epithelioid angiomyolipoma) of the kidney: a rare tumor subtype for patients presenting with an enhancing renal mass.

PubMed

Shrewsberry, Adam B; Sica, Gabriel L; Osunkoya, Adeboye O; Canter, Daniel J

2013-02-01

Epithelioid angiomyolipomas, or perivascular epithelioid cell tumors (epithelioid PEComas) of the kidney, are histologically related to renal angiomyolipomas (AMLs). However, in contrast to typical AMLs, this rare tumor can exhibit an aggressive clinical course with approximately 50% of reported cases demonstrating disease progression. In this report, we present a case of a 24-year-old female with a history of stone disease who was incidentally found to have a 9.0 cm right renal mass that was difficult to characterize radiographically preoperatively. The patient underwent a right radical nephrectomy, and pathology revealed a renal epithelioid PEComa.

A Rare Case of Periampullary Tumor

DTIC Science & Technology

2017-10-13

portion of the duodenum. They commonly present with abdominal pain, gastrointestinal bleeding, or rarely with obstructive jaundice. This is a case of an asymptomatic periampullary gangliocytic paraganglioma.

Embolic Brain Infarcts: A Rare Fatal Complication of Preoperative Embolization of a Massive Solitary Fibrous Tumor of the Pleura

DOE Office of Scientific and Technical Information (OSTI.GOV)

Patel, Shreyas R., E-mail: Shrey000@gmail.com; Vachhani, Prasann; Moeslein, Fred

Solitary fibrous tumor of the pleura (SFTP) is a rare intrathoracic neoplasm, often giant in size and highly vascular, which can make surgical resection very challenging. Preoperative percutaneous embolization before surgical removal can significantly reduce the risk of uncontrollable intraoperative hemorrhage. However, a rare potential life threatening complication could result from embolization of SFTP and must be taken into consideration. This report describes a 69-year-old female with a large right thoracic SFTP, who underwent preoperative angiography and embolization and developed diffuse embolic brain infarcts immediately after the administration of polyvinyl alcohol particles.

Two patients with rare mixed adenoneuroendocrine carcinomas of the rectum.

PubMed

Gül-Klein, Safak; Sinn, Marianne; Jurmeister, Philipp Sebastian; Biebl, Matthias; Weiß, Sascha; Rau, Beate; Bläker, Hendrik; Pratschke, Johann; Aigner, Felix

2018-01-01

Mixed adenoneuroendocrine carcinomas of the gastrointestinal tract are until today poorly understood and thus very challenging for interdisciplinary therapy. We herewith report the first case series of patients with a primary mixed adenoneuroendocrine carcinoma of the rectum. Both cases were initially diagnosed as adenocarcinoma and only secondarily with mixed adenoneuroendocrine carcinoma and had a poor outcome due to a rapid tumor progression and resistance to chemotherapy. A 65-year-old female presented with local tumor recurrence and hepatopulmonary metastasis 1 year after primary surgery for adenocarcinoma of the rectum and consecutive radiochemotherapy regimen. Fluorouracil (5-FU) was followed by bevacizumab- and capecitabine-based chemotherapy but had to be discontinued due to side effects and progressive disease. Progressive local pain syndrome accompanied by recurrent bleeding episodes led to a local tumor-debulking operation. Afterward, mixed adenoneuroendocrine carcinoma as the underlying diagnosis in the final histopathological examination was detected. The patient died 3 months after the operation in the context of a fulminant tumor progress. A 63-year-old male patient underwent neoadjuvant radiochemotherapy and laparoscopic rectum resection. After 5 months, postoperative oxaliplatin/capecitabine-based adjuvant chemotherapy was switched to carboplatin/etopsid due to a progressive polyneuropathy and biopsy-proven pulmonary metastasis. The patient then had to be switched to local radiation of cerebral metastases and Topotecan due to cerebral bleeding episodes but died 18 months after the initial diagnosis. In conclusion of our case series, mixed adenoneuroendocrine carcinomas of the rectum should be considered as a rare but aggressive tumor entity. An early and detailed histopathological diagnosis is required in order to establish an individual interdisciplinary treatment concept.

Automated Microfluidic Filtration and Immunocytochemistry Detection System for Capture and Enumeration of Circulating Tumor Cells and Other Rare Cell Populations in Blood.

PubMed

Pugia, Michael; Magbanua, Mark Jesus M; Park, John W

2017-01-01

Isolation by size using a filter membrane offers an antigen-independent method for capturing rare cells present in blood of cancer patients. Multiple cell types, including circulating tumor cells (CTCs), captured on the filter membrane can be simultaneously identified via immunocytochemistry (ICC) analysis of specific cellular biomarkers. Here, we describe an automated microfluidic filtration method combined with a liquid handling system for sequential ICC assays to detect and enumerate non-hematologic rare cells in blood.

Diagnosing and treating rare lesions in a low resource setting: lessons from ahybrid epithelioid trophoblastic tumor and choriocarcinoma.

PubMed

Akakpo, Patrick K; Ulzen-Appiah, Kofi; Agbeno, Evans; Derkyi-Kwarteng, Leonard

2017-12-01

To raise awareness of the existence of a rare type of malignant trophoblastic tumor and discuss the diagnostic challenges and management of this lesion in a low resource setting. A 35 -year -old G 6 P 3 woman was referred to our facility on account of persistent vaginal bleeding due to a suspected incomplete miscarriage with a cervical mass. Her serum β-HCG was elevated (36,900 mIU/ml) and examination showed a bleeding cervical mass. An initial histopathological diagnosis of moderately differentiated squamous cell carcinoma was reviewed to epithelioid trophoblastic tumor resulting in an extra-fascial hysterectomy. A final histopathological diagnosis of hybrid Epithelioid Trophoblastic Tumor and Choriocarcinoma (ETT/CC) was made after external review and immunohistochemistry. She received subsequent chemotherapy. Epithelioid trophoblastic tumor and its hybrids are difficult to diagnose. They may be diagnosed as moderately differentiated squamous cell carcinoma especially in low resource settings where cervical squamous cell carcinoma is relatively more common. A high index of suspicion, a serum β HCG test and close collaboration between clinicians and pathologists can help make the diagnosis. None.

Tumors and Pregnancy

MedlinePlus

Tumors during pregnancy are rare, but they can happen. Tumors can be either benign or malignant. Benign tumors aren't cancer. Malignant ones are. The most common cancers in pregnancy are breast cancer, cervical cancer, lymphoma, and melanoma. ...

A rare case of lateral sinus thrombosis with carotid space abscess.

PubMed

Singh, Gautam Bir; Rai, Anil K; Singh, Sarvejeet; Sinha, Mukul

2012-01-01

This case report describes a case of carotid space abscess secondary to lateral sinus thrombosis associated with internal jugular vein thrombosis. With this case, we illustrate a rare entity that presented in an extremely rare manner. To the authors knowledge such a case has not been previously reported.

Rare recurrence of a rare ovarian stromal tumor with luteinized cells: a case report.

PubMed

El Mehdi, Tazi; Essadi, Ismail; M'rabti, Hind; Errihani, Hassan

2011-08-04

Sex cord-stromal tumors of the ovary are uncommon. They behave unpredictably and often have a late recurrence, making counseling, management, and prediction of prognosis challenging. A 52-year-old Moroccan woman with an sex cord-stromal tumors underwent a bilateral oophorectomy. The histology was unusual but was likely to be a luteinized thecoma with suspicious features for invasion. Seven years later, after a gastrointestinal bleed, a metastasis within the small bowel mucosa was detected. This represents probable isolated hematogenous or lymphatic spread, which is highly unusual, especially in the absence of concurrent peritoneal disease. To the best of our knowledge, this is the second reported case of an sex cord-stromal tumors recurring in small bowel mucosa and mimicking a primary colorectal tumor. This highlights the diverse nature and behavior of these tumors.

Rhabdoid Meningioma of Brain - A Rare Aggressive Tumor

PubMed Central

Mondal, Sajeeb; Pradhan, Rajashree; Pal, Subrata; Chatterjee, Sharmistha; Bandyapadhyay, Arindam; Bhattacharyya, Debosmita

2017-01-01

Rhabdoid meningioma is a rare aggressive variant of meningioma, regarded as WHO Grade III type. Histologically and cytologically, it is distinctive type having abundant eosinophilic cytoplasm, cytoplasmic inclusion with eccentrically placed vesicular nuclei and prominent nucleoli. High recurrence rate and poor outcome are important features. Here, we are presenting a rare case of rhabdoid meningioma found in a recurrent meningioma of the posterior fossa in a middle-aged female. We emphasized the squash cytology and histology finding of the rare neoplasm. PMID:28900335

"New drug" designations for new therapeutic entities: new active substance, new chemical entity, new biological entity, new molecular entity.

PubMed

Branch, Sarah K; Agranat, Israel

2014-11-13

This Perspective addresses ambiguities in designations of "new drugs" intended as new therapeutic entities (NTEs). Designation of an NTE as a new drug is significant, as it may confer regulatory exclusivity, an important incentive for development of novel compounds. Such designations differ between jurisdictions according to their drug laws and drug regulations. Chemical, biological, and innovative drugs are addressed in turn. The terms new chemical entity (NCE), new molecular entity (NME), new active substance (NAS), and new biological entity (NBE) as applied in worldwide jurisdictions are clarified. Differences between them are explored through case studies showing why new drugs have different periods of exclusivity in different jurisdictions or none at all. Finally, this Perspective recommends that in future, for the purpose of new drug compilations, NME is used for a new chemical drug, NBE for a new biological drug, and the combined designation NTE should refer to either an NME or an NBE.

A Scary Onset of a Rare and Aggressive Type of Primary Breast Sarcoma: A Case Report.

PubMed

Ramalho, Inês; Campos, Sara; Rebelo, Teresa; Figueiredo Dias, Margarida

2016-01-01

Primary breast sarcoma, arising from connective tissue within the breast, is extremely rare, accounting for less than 1% of all primary breast malignancies and no more than 5% of all sarcomas. The rarity of this pathology limits most studies to case reports and small retrospective studies, which has led to a lack of consensus on the clinical management. We report a clinical case of a 52-year-old woman, perimenopausal, previously healthy, with regular breast surveillance, who presented with a large (>20 cm) and rapidly expanding hypervascularized tumor of the left breast developed over 10 days, with a very thin preulcerative skin over the last 4 days. There was no systemic dissemination. The patient was submitted to total mastectomy and excision of axillary adenopathy. The tumor was diagnosed histologically as malignant phyllodes tumor associated with areas of high-grade sarcoma. Due to rapid growth and aggressive histological characteristics, adjuvant chemotherapy and radiotherapy were performed. There is a lot of evidence that tumors larger than 5 cm are associated with a poor prognosis. Despite the poor prognosis associated with this aggressive entity, the patient had no recurrence during 5 years of follow-up. We review the relevant literature about primary breast sarcomas.

A Scary Onset of a Rare and Aggressive Type of Primary Breast Sarcoma: A Case Report

PubMed Central

Ramalho, Inês; Campos, Sara; Rebelo, Teresa; Figueiredo Dias, Margarida

2016-01-01

Primary breast sarcoma, arising from connective tissue within the breast, is extremely rare, accounting for less than 1% of all primary breast malignancies and no more than 5% of all sarcomas. The rarity of this pathology limits most studies to case reports and small retrospective studies, which has led to a lack of consensus on the clinical management. We report a clinical case of a 52-year-old woman, perimenopausal, previously healthy, with regular breast surveillance, who presented with a large (>20 cm) and rapidly expanding hypervascularized tumor of the left breast developed over 10 days, with a very thin preulcerative skin over the last 4 days. There was no systemic dissemination. The patient was submitted to total mastectomy and excision of axillary adenopathy. The tumor was diagnosed histologically as malignant phyllodes tumor associated with areas of high-grade sarcoma. Due to rapid growth and aggressive histological characteristics, adjuvant chemotherapy and radiotherapy were performed. There is a lot of evidence that tumors larger than 5 cm are associated with a poor prognosis. Despite the poor prognosis associated with this aggressive entity, the patient had no recurrence during 5 years of follow-up. We review the relevant literature about primary breast sarcomas. PMID:28101028

Myofibroblastoma of the male breast: a rare entity with radiologic-pathologic correlation

PubMed Central

Comer, John D.; Cui, Xiaoyan; Eisen, Carolyn Sharyn; Abbey, Genevieve; Arleo, Elizabeth Kagan

2016-01-01

A 73-year old man with a history of multiple genitourinary malignancies was found to have a left retroareolar soft tissue mass on CT assessment of disease, and dedicated breast imaging was recommended. Diagnostic mammography and ultrasonography confirmed a solid mass, for which biopsy was recommended. Pathologic analysis demonstrated a spindle cell neoplasm with an immunoreactivity pattern consistent with myofibroblastoma. While this entity is benign, nonspecific imaging features necessitate tissue sampling for pathologic diagnosis, and, given pathologic rarity, open communication between the radiologist and pathologist is important to establish the correct diagnosis and to recommend appropriate management. PMID:27936420

Inflammatory Myofibroblastic Tumor of the Kidney: A Rare Renal Tumor.

PubMed

Pothadiyil, Alvin Jose; Bhat, Suresh; Paul, Fredrick; Mampatta, Jithesh; Srinivas, Mahesh

2016-11-01

Inflammatory Myofibroblastic Tumour (IMT) or 'pseudotumour' of the kidney is a rare benign tumour of unknown aetiology affecting mostly young adults. A subset of IMT is neoplastic and harbours translocations of activin receptor-like kinase-1 (ALK-1) gene and can recur or rarely metastasize. Presentation varies from an incidentaloma to gross haematuria. Clinical examination and radiological investigations are usually inconclusive. Often, biopsy is inconclusive necessitating a management similar to that of Renal Cell Cancer (RCC). Diagnosis is based on immunohistochemistry. We are reporting a case of IMT in a 50-year-old male patient who presented with left flank mass which on evaluation was suggestive of left renal cell carcinoma. Excision of the tumour, histopathological examination and Immunohistochemistry proved the tumour to be IMT.

Intraabdominal desmoplastic small round cell tumor: Report of a case and literature review.

PubMed

Koniari, Katerina; Mahera, Helen; Nikolaou, Marinos; Chatzis, Odysseas; Glezakou, Ourania; Magiasis, Vasilios; Kiratzis, Georgios

2011-01-01

Desmoplastic small round cell tumor is a rare malignancy with poor prognosis that predominantly affects young males. Its etiopathogenesis is still unknown and diagnosis can be achieved only by immunohistochemistry and cytogenetic studies. Due to our limited knowledge of the pathologic and clinical nature of this disease, there is no clear consensus regarding the optimal therapeutic procedures for treating this neoplasm. A high degree of care and improvements in diagnostic capabilities are required in order to identify this entity and avoid misdiagnosis. We report a new case of a 29-year-old male who proceeded to our Emergency Department complaining about non-specific abdominal pain. Physical examination revealed no abnormalities except for a palpable mass in the lower abdomen and a diffuse abdominal pain. Computed Tomography scan showed enlarged paraortic and mesenteric lymphadenopathy, thickness of the small bowel wall and dispersed masses intraperitoneally. He underwent an exploratory laparotomy and the resultant biopsy revealed desmoplastic small round cell tumor. Diagnosis of desmoplastic small round cell tumor can easily be missed because it presents with few early warning symptoms and signs, while the routine blood tests are within normal limits. A high degree of suspicion, a thorough physical examination, a full imaging check and an aggressive therapeutic approach are required in order to identify this disease and fight for a better quality of life for these patients. In addition we make a review of the literature in an effort to clarify the epidemiological, clinical and pathological aspects of this entity.

Isolated Traumatic Bilateral First Rib Fracture: A Rare Entity

PubMed Central

Chatterjee, Souvik; Dey, Rajesh; Ray, Ramdip; Sinha, Santanu

2011-01-01

Since the first rib is protected very well by the overlying soft tissue and bones, its fracture is a major injury and a considerable force is required to do it. Therefore, an isolated fracture of this rib is unusual. A 28-year-old healthy female had an accident while crossing the road and a heavy object fell on her. She had severe pain behind her clavicle region and was immediately hospitalized and examined. Thorough clinical examination and different relevant investigations surprisingly disclosed isolated bilateral first rib fracture which is a very rare clinical condition. PMID:25191390

Primary cutaneous perivascular epithelioid cell tumor (PEComa): Five new cases and review of the literature.

PubMed

Stuart, Lauren N; Tipton, Russell G; DeWall, Michael R; Parker, Douglas C; Stelton, Christina D; Morrison, Annie O; Coleman, Landon W; Fosko, Scott W; Vidal, Claudia I; Yadira Hurley, Maria; Deeken, Amy H; Gardner, Jerad M

2017-08-01

PEComas represent a family of uncommon mesenchymal tumors composed of "perivascular epithelioid cells" with a distinct immunophenotype that typically shows both myogenic and melanocytic differentiation. The PEComa family includes angiomyolipoma (AML), clear cell "sugar" tumor of the lung and extra pulmonary sites, lymphangioleiomyomatosis and clear cell myomelanocytic tumor of the falciform ligament/ligamentum teres. Very rarely, PEComas may arise in the skin. Primary cutaneous PEComas typically display a dermal proliferation of epithelioid cells with pale, clear, or granular pink cytoplasm arranged in nests and trabecula with an intervening arborizing network of delicate capillaries. Primary cutaneous PEComas have a lower frequency of myogenic marker expression than their deep soft tissue and visceral counterparts. They also often express strong diffuse CD10, leading to potential confusion with metastatic renal cell carcinoma. Most cases behave indolently. We report 5 additional cases of this rare entity. All showed classic histologic features and expression of either HMB-45 and/or Melan-A/MART-1. Four cases were tested for myogenic markers (2 were positive & 2 were negative). Three cases were tested for CD10 (all 3 were positive). All of our cases with clinical follow-up behaved indolently. Table 1 provides a summary of findings for all 5 cases in our series. © 2017 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

Double intestinal duplication and incidental neuroendocrine tumor of appendix, a rare case of acute abdomen

PubMed Central

Bellanova, G.; Valduga, P.; Costa, A.; Barbareschi, M.; De Carli, N.; Giannelli, G.; Di Sipio, A.; Prezzi, C.; Ciarleglio, F.A.; Beltempo, P.; Marcucci, S.; Giacomin, D.; Depretis, G.; Brolese, A.

2015-01-01

Introduction Intestinal duplication is rarely reported in adulthood and often remains undiagnosed until onset of complications. We describe the case of a 39 year old woman who came to our observation for acute abdomen due to a combination of double intestinal duplication (colon and ileum) and an incidental neuroendocrine tumor of the appendix. Materials and methods A 39 year old woman who was admitted at with upper abdominal pain. Multisliced spiral CT scan showed a cystic lesion suggestive of an inflammed Meckel’s diverticulum.The patient was underwent an urgent explorative laparoscopy. The intraoperative findings revealed a cystic lesion of the anti-mesenteric side of transverse colon, apparently dissectable from the bowel and a second lesion with a strongly adherent and unresectable from the anti-mesenteric aspect of the small bowel. A combined appendectomy was also performed. The histological diagnosis was consistent with a typical intestinal duplication for both intestinal lesionsand an incidental 2 mm carcinoid tumor was also found in the appendix. The postoperative course was uneventful and the patient was discharged on p.o. day 5. At the presenttime she is well and following a regular oncologic follow-up. Discussion The rarity of this case is due to the concomitant presence of an incidental, sincronous, appendiceal NET. The elective treatment is surgical resection. Conclusion Intestinal duplication in the adulthood is extremely rare and may either have an acute presentation as acute abdomen or represents an incidental finding of mass. We suggest that, once the diagnosis is suspected patient must undergo surgery. PMID:26188982

Cutaneous silica granuloma. A rare entity or rarely diagnosed Report of two cases with review of the literature

DOE Office of Scientific and Technical Information (OSTI.GOV)

Mowry, R.G.; Sams, W.M. Jr.; Caulfield, J.B.

1991-05-01

Cutaneous silica granuloma is a poorly understood, uncommon condition that may mimic cutaneous sarcoidosis. We describe two cases of this entity and their characteristic latency period (between the time of silica exposure to the time of clinical onset of granuloma). We also review the histologic and energy dispersive x-ray analysis data, which prove the diagnosis. This condition should be recognized as an occupational dermatosis as well as the result of past incidental cuts or abrasions, which result in the development of granulomas, many in old wound scars. Differentiation from cutaneous sarcoidosis is possible with polarized light microscopy and energy-dispersive x-raymore » analysis.15 references.« less

Neuropathies in the setting of Neurofibromatosis tumor syndromes: Complexities and opportunities.

PubMed

Schulz, Alexander; Grafe, Peter; Hagel, Christian; Bäumer, Philipp; Morrison, Helen; Mautner, Victor-Felix; Farschtschi, Said

2018-01-01

The term 'Neurofibromatosis' (NF) comprises a group of rare diseases with related clinical presentations but distinct genetic conditions. All currently known types - NF1, NF2 and Schwannomatosis - predispose afflicted individuals to the development of glial cell-derived (gliogenic) tumors. Furthermore, the occurrence of neuropathic symptoms, which add to the overall neurologic disability of patients, has been described in all disease entities. We show that neuropathic symptoms are a common and clinically important, yet infrequently studied feature in the NF spectrum. However, the clinical relevance and respective underlying pathogenesis, varies greatly among the different NF types. In this review, we summarize and interpret the latest basic research findings, as well as clinical observations, in respect of Neurofibromatosis-associated neuropathies. Copyright © 2017 Elsevier Inc. All rights reserved.

Riedel thyroiditis: Fine needle aspiration findings of a rare entity.

PubMed

Weidner, Anna-Sophie; Molina, David; DeSimone, Robert A; Cohen, Marc A; Giorgadze, Tamar; Scognamiglio, Theresa; Hoda, Rana S

2015-09-01

Riedel thyroiditis is a rare fibrosing disorder characterized by extension of the fibroinflammatory process beyond the thyroid capsule. Due to the nature of this lesion, fine-needle aspiration often yields scant material and may be interpreted as non-diagnostic. In this report, we describe cytologic features that allow the cytopathologist to favor a diagnosis of Riedel thyroiditis, thereby guiding appropriate further work-up and management. © 2015 Wiley Periodicals, Inc.

Novel EGFR-specific immunotoxins based on panitumumab and cetuximab show in vitro and ex vivo activity against different tumor entities.

PubMed

Niesen, Judith; Stein, Christoph; Brehm, Hannes; Hehmann-Titt, Grit; Fendel, Rolf; Melmer, Georg; Fischer, Rainer; Barth, Stefan

2015-12-01

The epidermal growth factor receptor (EGFR) is overexpressed in many solid tumors. EGFR-specific monoclonal antibodies (mAbs), such as cetuximab and panitumumab, have been approved for the treatment of colorectal and head and neck cancer. To increase tissue penetration, we constructed single-chain fragment variable (scFv) antibodies derived from these mAbs and evaluated their potential for targeted cancer therapy. The resulting scFv-based EGFR-specific immunotoxins (ITs) combine target specificity of the full-size mAb with the cell-killing activity of a toxic effector domain, a truncated version of Pseudomonas exotoxin A (ETA'). The ITs and corresponding imaging probes were tested in vitro against four solid tumor entities (rhabdomyosarcoma, breast, prostate and pancreatic cancer). Specific binding and internalization of the ITs scFv2112-ETA' (from cetuximab) and scFv1711-ETA' (from panitumumab) were demonstrated by flow cytometry and for the scFv-SNAP-tag imaging probes by live cell imaging. Cytotoxic potential of the ITs was analyzed in cell viability and apoptosis assays. Binding of the ITs was proofed ex vivo on rhabdomyosarcoma, prostate and breast cancer formalin-fixed paraffin-embedded biopsies. Both novel ITs showed significant pro-apoptotic and anti-proliferative effects toward the target cells, achieving IC50 values of 4 pM (high EGFR expression) to 460 pM (moderate EGFR expression). Additionally, rapid internalization and specific in vitro and ex vivo binding on patient tissue were confirmed. These data demonstrate the potent therapeutic activity of two novel EGFR-specific ETA'-based ITs. Both molecules are promising candidates for further development toward clinical use in the treatment of various solid tumors to supplement the existing therapeutic regimes.

Spontaneous extradural and subgaleal hematoma: A rare neurosurgical crisis of sickle cell disease

PubMed Central

Mishra, Sudhansu S.; Senapati, Satya B.; Gouda, Amiya K.; Behera, Sanjay K.; Patnaik, Ashis

2017-01-01

Extradural hematoma (EDH) in absence of trauma is a rare entity with only few cases reported in literature. The various causes reported include: Vascular malformation of dura, coagulopathies, sinus infection, middle ear or orbital infection, and tumor. Occurrence of spontaneous EDH as a complication of sickle cell disease is even much rarer. We report a case with sickle cell disease who presented with spontaneous extradural and subgaleal hematomas following an episode of vaso-oclusive crisis. He was managed successfully with surgery. The association of epidural hematomas in sickling hemoglobinopathies is reviewed. In all cases, we noticed one episode of sickle cell crisis just before the occurrence of spontaneous EDH. Perhaps this crisis puts an extra demand over the hematopoietic skull tissue disrupting inner and outer skull margins leading to spontaneous EDH and subgaleal hematoma. PMID:28413532

Pneumothorax caused by cystic and nodular lung metastases from a malignant uterine perivascular epithelioid cell tumor (PEComa).

PubMed

Okamoto, Shouichi; Komura, Moegi; Terao, Yasuhisa; Kurisaki-Arakawa, Aiko; Hayashi, Takuo; Saito, Tsuyoshi; Togo, Shinsaku; Shiokawa, Akira; Mitani, Keiko; Kobayashi, Etsuko; Kumasaka, Toshio; Takahashi, Kazuhisa; Seyama, Kuniaki

2017-01-01

Perivascular epithelioid cell tumors (PEComas) are mesenchymal neoplasms with immunoreactivity for both melanocytic and smooth muscle markers. PEComas occur at multiple sites, and malignant PEComas can undergo metastasis, recurrence and aggressive clinical courses. Although the lung is a common metastatic site of PEComas, they usually appear as multiple nodules but rarely become cystic or cavitary. Here, we describe a female patient whose lungs manifested multiple cystic, cavity-like and nodular metastases 3 years after the resection of uterine tumors tentatively diagnosed as epithelioid smooth muscle tumors with uncertain malignant potential. This patient's subsequent pneumothorax necessitated video-assisted thoracoscopic surgery, and examination of her resected lung specimens eventually led to correcting the diagnosis, i.e., to a PEComa harboring tuberous sclerosis complex 1 ( TSC1 ) loss-of-heterozygosity that originated in the uterus and then metastasized to the lungs. The administration of a gonadotropin-releasing hormone analogue later stabilized her clinical course. To the best of our knowledge, the present case is the first in the literature that associates PEComas with a TSC1 abnormality. Additionally, the pulmonary manifestations, including imaging appearance and pneumothorax, somewhat resembled those of lymphangioleiomyomatosis, a representative disease belonging to the PEComa family. Although PEComas are rare, clinicians, radiologists and pathologists should become aware of this disease entity, especially in the combined clinical setting of multiple cystic, cavity-like, nodular lesions on computed tomography of the chest and a past history of the tumor in the female reproductive system.

Primary tubercular abscess of the breast--an unusual entity.

PubMed

Gupta, R; Singal, R P; Gupta, A; Singal, S; Shahi, S R; Singal, R

2012-02-22

Primary breast tuberculosis manifested as abscess is a rare entity. We are reporting a case of primary breast tuberculosis, which presented as breast abscess. Abscess was drained and tissue sent for histopathology. To our surprise, diagnosis came as breast tuberculosis. Aspiration cytology was not done, as it is not a routine test for abscess cases. Patient was put on anti- tubercular drugs. In the follow-up of 6 months, she was asymptomatic and advised to continue medicine.

Traditional and systems biology based drug discovery for the rare tumor syndrome neurofibromatosis type 2

PubMed Central

Angus, Steve P.; Beauchamp, Roberta L.; Blakeley, Jaishri O.; Bott, Marga; Burns, Sarah S.; Carlstedt, Annemarie; Chang, Long-Sheng; Chen, Xin; Clapp, D. Wade; Desouza, Patrick A.; Erdin, Serkan; Fernandez-Valle, Cristina; Guinney, Justin; Gusella, James F.; Haggarty, Stephen J.; Johnson, Gary L.; Morrison, Helen; Petrilli, Alejandra M.; Plotkin, Scott R.; Pratap, Abhishek; Ramesh, Vijaya; Sciaky, Noah; Stemmer-Rachamimov, Anat; Stuhlmiller, Tim J.; Talkowski, Michael E.; Yates, Charles W.; Zawistowski, Jon S.; Zhao, Wen-Ning

2018-01-01

Neurofibromatosis 2 (NF2) is a rare tumor suppressor syndrome that manifests with multiple schwannomas and meningiomas. There are no effective drug therapies for these benign tumors and conventional therapies have limited efficacy. Various model systems have been created and several drug targets have been implicated in NF2-driven tumorigenesis based on known effects of the absence of merlin, the product of the NF2 gene. We tested priority compounds based on known biology with traditional dose-concentration studies in meningioma and schwann cell systems. Concurrently, we studied functional kinome and gene expression in these cells pre- and post-treatment to determine merlin deficient molecular phenotypes. Cell viability results showed that three agents (GSK2126458, Panobinostat, CUDC-907) had the greatest activity across schwannoma and meningioma cell systems, but merlin status did not significantly influence response. In vivo, drug effect was tumor specific with meningioma, but not schwannoma, showing response to GSK2126458 and Panobinostat. In culture, changes in both the transcriptome and kinome in response to treatment clustered predominantly based on tumor type. However, there were differences in both gene expression and functional kinome at baseline between meningioma and schwannoma cell systems that may form the basis for future selective therapies. This work has created an openly accessible resource (www.synapse.org/SynodosNF2) of fully characterized isogenic schwannoma and meningioma cell systems as well as a rich data source of kinome and transcriptome data from these assay systems before and after treatment that enables single and combination drug discovery based on molecular phenotype. PMID:29897904

Traditional and systems biology based drug discovery for the rare tumor syndrome neurofibromatosis type 2.

PubMed

Allaway, Robert; Angus, Steve P; Beauchamp, Roberta L; Blakeley, Jaishri O; Bott, Marga; Burns, Sarah S; Carlstedt, Annemarie; Chang, Long-Sheng; Chen, Xin; Clapp, D Wade; Desouza, Patrick A; Erdin, Serkan; Fernandez-Valle, Cristina; Guinney, Justin; Gusella, James F; Haggarty, Stephen J; Johnson, Gary L; La Rosa, Salvatore; Morrison, Helen; Petrilli, Alejandra M; Plotkin, Scott R; Pratap, Abhishek; Ramesh, Vijaya; Sciaky, Noah; Stemmer-Rachamimov, Anat; Stuhlmiller, Tim J; Talkowski, Michael E; Welling, D Bradley; Yates, Charles W; Zawistowski, Jon S; Zhao, Wen-Ning

2018-01-01

Neurofibromatosis 2 (NF2) is a rare tumor suppressor syndrome that manifests with multiple schwannomas and meningiomas. There are no effective drug therapies for these benign tumors and conventional therapies have limited efficacy. Various model systems have been created and several drug targets have been implicated in NF2-driven tumorigenesis based on known effects of the absence of merlin, the product of the NF2 gene. We tested priority compounds based on known biology with traditional dose-concentration studies in meningioma and schwann cell systems. Concurrently, we studied functional kinome and gene expression in these cells pre- and post-treatment to determine merlin deficient molecular phenotypes. Cell viability results showed that three agents (GSK2126458, Panobinostat, CUDC-907) had the greatest activity across schwannoma and meningioma cell systems, but merlin status did not significantly influence response. In vivo, drug effect was tumor specific with meningioma, but not schwannoma, showing response to GSK2126458 and Panobinostat. In culture, changes in both the transcriptome and kinome in response to treatment clustered predominantly based on tumor type. However, there were differences in both gene expression and functional kinome at baseline between meningioma and schwannoma cell systems that may form the basis for future selective therapies. This work has created an openly accessible resource (www.synapse.org/SynodosNF2) of fully characterized isogenic schwannoma and meningioma cell systems as well as a rich data source of kinome and transcriptome data from these assay systems before and after treatment that enables single and combination drug discovery based on molecular phenotype.

Hidradenocarcinoma eccrinale syringomatodes of the eyelid--case of a rare malignancy.

PubMed

Karolina, Ziaja; Arkadiusz, Pogrzebielski; Jolanta, Orłowska-Heitzman; Bozena, Romanowska-Dixon

2010-01-01

Presentation of a case of very rare malignant tumor of eccrine sweat glands in the eyelid. A 44 years old man with a tumor of the upper left eyelid is presented. Sweat gland carcinomas are rare malignant tumors of the skin adnexa. Diagnosis of these carcinomas is difficult due to their infrequency.

Diffuse leptomeningeal neuroepithelial tumor: 9 pediatric cases with chromosome 1p/19q deletion status and IDH1 (R132H) immunohistochemistry.

PubMed

Schniederjan, Matthew J; Alghamdi, Sarah; Castellano-Sanchez, Amilcar; Mazewski, Claire; Brahma, Barunashish; Brat, Daniel J; Brathwaite, Carole D; Janss, Anna J

2013-05-01

Leptomeningeal dissemination in children is typical of high-grade, and occasionally low-grade, neoplasms. Rare cases of widely disseminated oligodendroglia-like leptomeningeal tumors, sometimes with associated spinal cord lesions, have been described that respond to treatment and follow an indolent course. Whether these lesions represent an established tumor category or are a unique entity remains to be established. We present 9 pediatric cases of such diffuse leptomeningeal neuroepithelial tumors (DLNT), 8 with assessment of 2 common genetic alterations seen in oligodendrogliomas, 1p and 19q chromosomal deletions and isocitrate dehydrogenase-1 (IDH1) R132H mutations. Four patients were male and 5 female, with a mean age at presentation of 4 years (range, 2 to 7 y). All presented with signs of increased intracranial pressure and diffuse contrast enhancement of the leptomeninges by magnetic resonance imaging. Three had a cervical or upper thoracic spinal cord tumor, and another had a small cerebellar lesion. Leptomeningeal biopsies showed a thickened and fibrotic arachnoid infiltrated by monotonous cells with round nuclei and prominent perinuclear clearing. All cases were strongly immunoreactive for S100 protein, and most showed faint granular synaptophysin reactivity. Six of 8 cases showed deletions of chromosome arm 1p by fluorescence in situ hybridization, 2 of which also had loss of 19q. None of the lesions reacted with IDH1-R132H antibodies. Although the clinicopathologic features show overlap of these DLNT lesions with oligodendroglioma and extraventricular neurocytoma, they do not exactly match either one, suggesting that DLNTs are a distinct tumor entity.

Novel Treatments for Rare Cancers: The U.S. Orphan Drug Act Is Delivering-A Cross-Sectional Analysis.

PubMed

Stockklausner, Clemens; Lampert, Anette; Hoffmann, Georg F; Ries, Markus

2016-04-01

Rare cancers are a heterogeneous group of conditions with highly unmet medical needs. Although infrequent in individuals, rare cancers affect millions of people who deserve effective treatments. Therefore, we systematically analyzed the impact of the U.S. Orphan Drug Act of 1983 on delivery of novel treatments for rare cancers. Quantitative cross-sectional analysis was conducted on the U.S. Food and Drug Administration Orphan Drug Product database according to Strengthening the Reporting of Observational Studies in Epidemiology Statement criteria between 1983 and 2015. Since 1983, a total of 177 approvals have originated from 1,391 orphan drug designations to treat rare cancers, which represents 36% of all approvals within the U.S. orphan drug act (n = 492). Two compounds (1%) to treat rare cancer were withdrawn after approval. Median time from designation to approval was 2.49 years (interquartile range 1.13-4.64) and decreased significantly over time (p < .001, linear regression). Over the last decade, rare cancer treatments have been transformed from nonspecific cytotoxic agents toward targeted therapies, such as protein kinase inhibitors and monoclonal antibodies, representing the largest groups of innovative rare cancer treatments today. Most compounds were approved to treat solid tumors and hematological malignancies. The U.S. Orphan Drug Act and associated incentives, such as 7 years of marketing exclusivity, have fostered delivery of novel treatments for rare cancers. More than one-third of all orphan drug approvals address needs of patients suffering from rare cancers. Over the last decade, the understanding of tumorigenesis and genetic driver mutations in different tumor entities has produced innovative treatments, of which many were first approved within the U.S. Orphan Drug Act. Over the last 30 years, the U.S. Orphan Drug Act successfully delivered numerous novel treatments for rare cancers, of which some were subsequently used in other, nonorphan

An unusual presentation of adult Wilms' tumor.

PubMed

Mydlo, J H; Horowitz, M; Del Rosario, C; Cosgrove, J; Macchia, R J

1996-01-01

Wilms' tumor (nephroblastoma), a primary renal neoplasm containing primitive blastema and embryonic glomerulotubular structures, is the most common malignant tumor of the urinary tract in children. There have been about 240 cases of adult Wilms' tumor reported in the world literature, however due to some differences in histologic findings, many cases have been reclassified as rhabdoid or clear cell sarcomas, both of which are recognized as separate entities. We report a case of an adult Wilms' tumor and discuss the clinical, radiographic and histologic features of this tumor.

Hemorrhagic Transformation of Scrub Typhus Encephalitis: A Rare Entity.

PubMed

Kim, H-C; Yoon, K-W; Yoo, D-S; Cho, C-S

2015-12-01

Central nervous system (CNS) involvement of scrub typhus infection is well known. Most CNS involvement of scrub typhus infection present as meningitis or encephalitis. We report on a patient suffering from hemorrhagic transformation of intracranial lesions caused by Orientia tsutsugamushi. A 53-year-old female farmer who was infected by scrub typhus was treated with doxycycline and recovered from the systemic illness. However, headache persisted. Brain radiologic studies revealed acute intracranial hemorrhage and enhancing lesion, which implied a CNS involvement. Hemorrhagic transformation of encephalitis by scrub typhus is very rare complication and to our best knowledge, this is the first report of hemorrhagic transformation of scrub typhus encephalitis. Clinician should consider the possibility of hemorrhagic transformation of encephalitis in cases of scrub typhus infection.

Gingival leiomyomatous hamartoma of the maxilla: a rare entity

PubMed Central

Raghunath, Vandana; Manjunatha, Bhari Sharanesha; Al-Thobaiti, Yasser

2016-01-01

Hamartoma is a tumour-like malformation appearing as a focal overgrowth of normal cells. Leiomyomatous hamartomas (LHs) are rare in the oral cavity and commonly seen in the Japanese and less than 40 cases have been reported in the Japanese and English literature. The clinical differential diagnoses are irritational (traumatic) fibroma and congenital epulis. It has to be differentiated histopathologically from its neoplastic counterparts and mesenchymomas. Hence, we report such a case of LHs, which presented as a sessile gingival growth occurring in the midline in a 15-year-old girl. The final diagnosis was based on the histopathological appearance which was confirmed by immunohistochemical staining of various markers. A review of the literature of previous cases was also carried out. PMID:27161203

Gingival leiomyomatous hamartoma of the maxilla: a rare entity.

PubMed

Raghunath, Vandana; Manjunatha, Bhari Sharanesha; Al-Thobaiti, Yasser

2016-05-09

Hamartoma is a tumour-like malformation appearing as a focal overgrowth of normal cells. Leiomyomatous hamartomas (LHs) are rare in the oral cavity and commonly seen in the Japanese and less than 40 cases have been reported in the Japanese and English literature. The clinical differential diagnoses are irritational (traumatic) fibroma and congenital epulis. It has to be differentiated histopathologically from its neoplastic counterparts and mesenchymomas. Hence, we report such a case of LHs, which presented as a sessile gingival growth occurring in the midline in a 15-year-old girl. The final diagnosis was based on the histopathological appearance which was confirmed by immunohistochemical staining of various markers. A review of the literature of previous cases was also carried out. 2016 BMJ Publishing Group Ltd.

Warthin tumor presenting as a fungal abscess in an immunocompetent host: case report and review of the literature.

PubMed

Leibowitz, Jason M; Montone, Kathleen T; Basu, Devraj

2010-01-01

Fungal abscesses of the parotid gland are rare, and cases arising within parotid neoplasms have not been described previously. This report conveys our experience managing such an entity, which is further distinguished by its occurrence in an immunocompetent host. A 59-year-old man experienced multiple recurrences of a parotid fungal abscess requiring repeated drainage procedures. Definitive excision ultimately demonstrated Candida glabrata infecting a Warthin tumor. This case is the first report of a parotid neoplasm presenting as a fungal abscess. It contributes to the scant literature on fungal abscesses of the parotid, which previously has only been described in debilitated hosts and without an associated neoplasm. The case also expands the spectrum of disease associated with C. glabrata. Warthin tumor may be an occult etiology for a parotid fungal abscess, and definitive diagnosis and therapy may require parotidectomy.

Cutaneous metastasis of transitional cell bladder carcinoma: a rare presentation and literature review.

PubMed

Salemis, Nikolaos S; Gakis, Christos; Zografidis, Andreas; Gourgiotis, Stavros

2011-01-01

Cutaneous metastasis from transitional cell bladder carcinoma is a rare clinical entity associated with poor prognosis. We present a case of cutaneous metastasis arising from a transitional cell bladder carcinoma in a male patient who had undergone a radical cystectomy and bilateral ureterostomy 17 months previously. The cutaneous metastasis became evident 3 months before the manifestations of generalized recurrent disease. An awareness of this rare clinical entity and high index of suspicion is needed to rule out metastatic spread in patients with a previous history of transitional cell bladder carcinoma presenting with cutaneous nodules. Definitive diagnosis requires a histological confirmation, but prognosis is generally poor.

Intramedullary Solitary Fibrous Tumor--A Benign Form of Hemangiopericytoma? Case Report and Review of the Literature.

PubMed

Bruder, Markus; Tews, Dominique; Mittelbronn, Michel; Capper, David; Seifert, Volker; Marquardt, Gerhard

2015-07-01

Solitary fibrous tumors (SFTs) are benign tumors of the soft tissue occurring anywhere in the human body but arise predominantly in the visceral pleura. SFTs of the central nervous system are rare, especially when they occur within the spinal cord. We present a case of an 83-year-old female patient presenting with acute spastic paralysis of the lower extremities after a history of progressive weakness and incontinence. Magnetic resonance imaging (MRI) findings were typical for meningioma, but an intradural, mainly intramedullary tumor was found at the first operation. A second operation was performed under neurophysiological monitoring, and complete removal of the tumor was achieved. Neurological conditions improved after the procedure, but the patient remained paraparetic. Histological and immunohistochemical findings revealed an SFT. There is evidence that SFTs and hemangiopericytomas (HPCs) are not different entities but should be considered as different graduations of a common spectrum. The extent of resection is a prognostic factor for recurrence-free survival in SFT; therefore we recommend surgery with complete resection whenever possible depending on the results of mandatory intraoperative neurophysiological monitoring in these cases. Copyright © 2015 Elsevier Inc. All rights reserved.

Tumor microenvironment indoctrination

PubMed Central

2012-01-01

Nastiness of cancer does not only reside in the corruption of cancer cells by genetic aberrations that drive their sustained proliferative power—the roots of malignancy—but also in its aptitude to reciprocally sculpt its surrounding environment and cellular stromal ecosystem, in such a way that the corrupted tumor microenvironment becomes a full pro-tumorigenic entity. Such a contribution had been appreciated three decades ago already, with the discovery of tumor angiogenesis and extracellular matrix remodeling. Nevertheless, the recent emergence of the tumor microenvironment as the critical determinant in cancer biology is paralleled by the promising therapeutic potential it carries, opening alternate routes to fight cancer. The study of the tumor microenvironment recruited numerous lead-scientists over the years, with distinct perspectives, and some of them have kindly accepted to contribute to the elaboration of this special issue entitled Tumor microenvironment indoctrination: An emerging hallmark of cancer. PMID:22863738

Single-cell codetection of metabolic activity, intracellular functional proteins, and genetic mutations from rare circulating tumor cells.

PubMed

Zhang, Yu; Tang, Yin; Sun, Shuai; Wang, Zhihua; Wu, Wenjun; Zhao, Xiaodong; Czajkowsky, Daniel M; Li, Yan; Tian, Jianhui; Xu, Ling; Wei, Wei; Deng, Yuliang; Shi, Qihui

2015-10-06

The high glucose uptake and activation of oncogenic signaling pathways in cancer cells has long made these features, together with the mutational spectrum, prime diagnostic targets of circulating tumor cells (CTCs). Further, an ability to characterize these properties at a single cell resolution is widely believed to be essential, as the known extensive heterogeneity in CTCs can obscure important correlations in data obtained from cell population-based methods. However, to date, it has not been possible to quantitatively measure metabolic, proteomic, and genetic data from a single CTC. Here we report a microchip-based approach that allows for the codetection of glucose uptake, intracellular functional proteins, and genetic mutations at the single-cell level from rare tumor cells. The microchip contains thousands of nanoliter grooves (nanowells) that isolate individual CTCs and allow for the assessment of their glucose uptake via imaging of a fluorescent glucose analog, quantification of a panel of intracellular signaling proteins using a miniaturized antibody barcode microarray, and retrieval of the individual cell nuclei for subsequent off-chip genome amplification and sequencing. This approach integrates molecular-scale information on the metabolic, proteomic, and genetic status of single cells and permits the inference of associations between genetic signatures, energy consumption, and phosphoproteins oncogenic signaling activities in CTCs isolated from blood samples of patients. Importantly, this microchip chip-based approach achieves this multidimensional molecular analysis with minimal cell loss (<20%), which is the bottleneck of the rare cell analysis.

Impact of Pathologist Involvement in Sarcoma and Rare Tumor Patient Support Groups on Facebook: A Survey of 542 Patients and Family Members.

PubMed

Haller, Jasmine; David, Marjorie Parker; Lee, Nathan E; Shalin, Sara C; Gardner, Jerad M

2018-01-29

- Patients with rare tumors have difficulty finding reliable information about their disease. Facebook patient support groups allow patients to educate one another. - To investigate how these patients perceive the value of pathologists, both in Facebook groups and real-world patient care. - Survey links were posted in 12 Facebook patient groups: 6 with an active pathologist member (angiosarcoma, epithelioid hemangioendothelioma, epithelioid sarcoma, dermatofibrosarcoma protuberans [×2], and desmoid fibromatosis), and 6 without "active" pathologist involvement (aggressive angiomyxoma, chondrosarcoma, Ewing sarcoma, leiomyosarcoma, liposarcoma, and osteosarcoma). - A total of 542 people responded (403 were patients): 264 from groups with a pathologist, and 278 from groups without active pathologist involvement. Of groups with an active pathologist, respondents agreed the pathologist's posts helped them better understand their disease (107 of 119; 90%) and relieved some of their disease-related anxiety (92 of 119; 77%). And for these groups 98% (117 of 119) of respondents agreed that having a pathologist in their group was a good thing; 83% (192 of 232) wanted more pathologists involved. More respondents from groups with an active pathologist (219 of 236; 93%) than without one (215 of 252; 85%) agreed: "pathologists are an important part of the patient care team for patients with cancer and other rare tumors" ( P = .008). - This study is the first to evaluate the impact of pathologist interaction with Facebook patient support groups and to assess perceptions about the specialty of pathology from a large group of patients with rare tumors. Pathologist involvement in Facebook patient groups appears to positively influence patient perception of the importance of pathologists. We hope these data will encourage more pathologists to participate in Facebook patient support groups.

Acoustofluidic, label-free separation and simultaneous concentration of rare tumor cells from white blood cells.

PubMed

Antfolk, Maria; Magnusson, Cecilia; Augustsson, Per; Lilja, Hans; Laurell, Thomas

2015-09-15

Enrichment of rare cells from peripheral blood has emerged as a means to enable noninvasive diagnostics and development of personalized drugs, commonly associated with a prerequisite to concentrate the enriched rare cell population prior to molecular analysis or culture. However, common concentration by centrifugation has important limitations when processing low cell numbers. Here, we report on an integrated acoustophoresis-based rare cell enrichment system combined with integrated concentration. Polystyrene 7 μm microparticles could be separated from 5 μm particles with a recovery of 99.3 ± 0.3% at a contamination of 0.1 ± 0.03%, with an overall 25.7 ± 1.7-fold concentration of the recovered 7 μm particles. At a flow rate of 100 μL/min, breast cancer cells (MCF7) spiked into red blood cell-lysed human blood were separated with an efficiency of 91.8 ± 1.0% with a contamination of 0.6 ± 0.1% from white blood cells with a 23.8 ± 1.3-fold concentration of cancer cells. The recovery of prostate cancer cells (DU145) spiked into whole blood was 84.1 ± 2.1% with 0.2 ± 0.04% contamination of white blood cells with a 9.6 ± 0.4-fold concentration of cancer cells. This simultaneous on-chip separation and concentration shows feasibility of future acoustofluidic systems for rapid label-free enrichment and molecular characterization of circulating tumor cells using peripheral venous blood in clinical practice.

Disease named entity recognition by combining conditional random fields and bidirectional recurrent neural networks.

PubMed

Wei, Qikang; Chen, Tao; Xu, Ruifeng; He, Yulan; Gui, Lin

2016-01-01

The recognition of disease and chemical named entities in scientific articles is a very important subtask in information extraction in the biomedical domain. Due to the diversity and complexity of disease names, the recognition of named entities of diseases is rather tougher than those of chemical names. Although there are some remarkable chemical named entity recognition systems available online such as ChemSpot and tmChem, the publicly available recognition systems of disease named entities are rare. This article presents a system for disease named entity recognition (DNER) and normalization. First, two separate DNER models are developed. One is based on conditional random fields model with a rule-based post-processing module. The other one is based on the bidirectional recurrent neural networks. Then the named entities recognized by each of the DNER model are fed into a support vector machine classifier for combining results. Finally, each recognized disease named entity is normalized to a medical subject heading disease name by using a vector space model based method. Experimental results show that using 1000 PubMed abstracts for training, our proposed system achieves an F1-measure of 0.8428 at the mention level and 0.7804 at the concept level, respectively, on the testing data of the chemical-disease relation task in BioCreative V.Database URL: http://219.223.252.210:8080/SS/cdr.html. © The Author(s) 2016. Published by Oxford University Press.

Primary tubercular abscess of the breast – an unusual entity

PubMed Central

Gupta, R; Singal, RP; Gupta, A; Singal, S; Shahi, SR; Singal, R

2012-01-01

Primary breast tuberculosis manifested as abscess is a rare entity. We are reporting a case of primary breast tuberculosis, which presented as breast abscess. Abscess was drained and tissue sent for histopathology. To our surprise, diagnosis came as breast tuberculosis. Aspiration cytology was not done, as it is not a routine test for abscess cases. Patient was put on anti- tubercular drugs. In the follow-up of 6 months, she was asymptomatic and advised to continue medicine. PMID:22574095

[Gastrointestinal stromal tumors: clinical considerations].

PubMed

Castronovo, G; Ciulla, A; Tomasello, G; Urso, G; Damiani, S

2003-01-01

Gastrointestinal stromal tumors (61ST) are an heterogeneous group of non epithelial tumors of the gastrointestinal tract. They are peculiar to extreme cellular variability and uncertain malignancy. Gist are rare tumors that arise from primitive mesenchymal cells located in all gastrointestinal tract. Till now they are object of discussion about their origin, diagnostic standards, prognostic factors, histopathological classification. They are more frequently in over 40 years old people without difference in two sex, but they can appear in the child too and in the young man suffering from HIV. The authors relate two cases of recent observation, and discuss on the biological behaviour of these rare tumors.

A rare case of anal carcinosarcoma with human papilloma virus infection in both biphasic tumor elements: An immunohistochemical, molecular and ultrastructural study.

PubMed

Hickman, Richard A; Bradshaw, Azore-Dee; Cassai, Nicholas; Neto, Antonio Galvao; Zhou, David; Fu, Tinghao; Lee, Peng; Pei, Zhiheng; Wieczorek, Rosemary

2016-12-01

Carcinosarcoma of the anus is rare and has yet to be reportedly associated with the keratinocyte-specific Human Papilloma Virus (HPV). We describe a case of anal carcinosarcoma with HPV infection in both the epithelial and mesenchymal components of the tumor by immunohistochemistry, chromogenic in-situ hybridization (CISH) and further supported by electron microscopy (EM). Microscopic examination of the tumor showed nests of poorly-differentiated invasive squamous cell carcinoma with basaloid features intermixed with a hypercellular, atypical spindle cell proliferation. Immunohistochemistry demonstrated that the epithelial component was positive for AE1/AE3, p63, CK5/6 and p16, whilst the mesenchymal component was positive for smooth muscle actin, vimentin, and focally positive for desmin and p16, consistent with carcinosarcoma. The tumor was negative for GATA-3, CK7 and CK20. CISH demonstrated that the tumor was positive for high risk HPV (subtype 16/18) in both tumor components. EM further supported the presence of intracellular virus particles (~50 nm) that is compatible with HPV infection. Infection of both epithelial and mesenchymal tumor components by HPV has not been previously observed in the gastrointestinal tract. This finding may represent initial epithelial HPV infection with subsequent divergent tumoral differentiation and suggests the presence of viral replication in both biphasic tumor components.

A giant mesentery malignant solitary fibrous tumor recurring as dedifferentiated liposarcoma- a report of a very rare case and literature review.

PubMed

Liu, Yang; Ishibashi, Haruaki; Sako, Shozou; Takeshita, Kazuyoshi; Li, Yan; Elnemr, Ayman; Yonemura, Yutaka

2013-11-01

We report a case of a 59-year-old woman with a very rare giant mesentery malignant solitary fibrous tumor that recurred as dedifferentiated liposarcoma. The woman was admitted to the hospital because of low abdominal pain. Radiological and biopsy findings revealed a multi-lobulated giant malignant solitary fibrous tumor that had invaded the inferior vena cava, abdominal aorta, and superior mesentery vessels. The tumor was completely removed during the first cytoreductive surgery. Histopathologically, tumor had a heterogeneous cell population, composed of spindle cells with fibrous collagen proliferation. The spindle cells were not arranged in a specific pattern. Immunohistochemistry revealed that the tumor cells were positive for CD34, CD99, Bcl-2, and smooth muscle actin( SMA) and negative for CD117, epithelial membrane antigen (EMA), CAM5.7, S100, desmin, and caldesmon. The tumor recurred 9 months after surgery, and another cytoreductive surgery was then performed. The postoperative histopathological appearance of the invaded area indicated a well-differentiated liposarcoma. Formation of tumorous bone was also noted in the same area, in addition to atypical mesenchymal cells and multi-vacuolated lipoblasts in the area of the well-differentiated liposarcoma. Proliferated spindle cells arranged in a storiform pattern were found in the area adjacent to the tumor. Immunohistochemical analysis revealed that the tumors cells were positive for SMA, HHF-35, and caldesmon and negative for CD117, CD34, and S100. A diagnosis of dedifferentiated liposarcoma was made.

Selected Case From the Arkadi M. Rywlin International Pathology Slide Seminar: Benign Warthin Tumor of the Thyroid.

PubMed

Peckova, Kvetoslava; Daum, Ondrej; Michal, Michael; Curcikova, Radmila; Michal, Michal

2016-09-01

We report on an exceedingly rare lesion of the thyroid probably of a branchial cleft origin, which was not published in the world literature before. A 58-year-old woman underwent a total thyroidectomy for bilateral goiter. Grossly, there was one yellowish nodule sized 15 mm in the largest dimension found in the right lobe. Microscopically, the thyroid parenchyma showed signs of Hashimoto thyroiditis. The nodule in the right lobe was composed of a part of solid cell nests appearance, another part resembling a branchial cleft cyst, and a part resembling Warthin tumor. This lesion may belong to the histogenetically similar group of entities in the head and neck region which are derived from branchial cleft derivatives and which, under the inflammatory influence, have the ability to a cystic dilatation and proliferation of the epithelial component. The epithelium can afterwards become papillary and may undergo oncocytic transformation, thus gaining features that impart the resemblance of a Warthin tumor. Club members generally agreed with a submitted diagnosis of benign Warthin tumor of the thyroid.

Paratesticular aggressive angiomyxoma: A rare case.

PubMed

Ismail, Muhamad Izwan; Wong, Yin Ping; Tan, Guan Hee; Fam, Xeng Inn

2017-01-01

Aggressive angiomyxoma (AAM) particularly testicular origin is a rare benign mesenchymal myxoid tumor which is locally aggressive, blatant for local recurrence, and may metastasize. It occurs mostly in females of childbearing age and extremely rare in males. AMM particular testicular origin is not reported in literature yet. This is a 65-year-old man who had a right scrotal swelling. Ultrasound scrotum showed a soft tissue tumor of the right testis. The patient underwent radical right orchidectomy of which histopathologically confirmed to be a paratesticular AAM with clear resection margins. There were no signs of local recurrence or metastasis 2 years postsurgical resection.

Metastatic Breast Cancer in Uterine Cervix: A Rare Presentation.

PubMed

Proença, Sara; Reis, Maria Inês; Cominho, Joana; Conde, Pedro Casado; Santos E Pereira, Helena; Ribeiro, Filipa Castro

2016-01-01

Uterine cervix involvement by a distant primary tumor is a rare event. We report the following 2 cases of breast tumor metastasis to the uterine cervix with different presentations: case 1 is an isolated cervix metastasis and case 2 is a disseminated metastatic disease with cervix involvement. In both, clinical examination raised the suspicion of cervical tumor, which was confirmed to be a metastatic adenocarcinoma.The poor outcome and lack of symptoms suggest that although its rareness, all patients with breast cancer should undergo a careful routine gynecologic examination.

Collagenous colitis in a patient with systemic sclerosis: a rare entity.

PubMed Central

Ekiz, Fuat; Coban, Sahin; Savas, Berna; Gören, Deniz; Ensari, Arzu; Ormeci, Necati

2007-01-01

Collagenous colitis has been associated with autoimmune diseases. Co-occurence of systemic sclerosis and collagenous colitis is particularly rare. Herein, we described a 65-year-old woman with systemic sclerosis whose diarrhea and abdominal cramping were due to collagenous colitis. We have reviewed the clinical and histopathological features of collagenous colitis with regard to its concomitance with systemic sclerosis. Images Figure 1 Figure 2 PMID:17595940

A prospective protocol for nasopharyngeal carcinoma in children and adolescents: the Italian Rare Tumors in Pediatric Age (TREP) project.

PubMed

Casanova, Michela; Bisogno, Gianni; Gandola, Lorenza; Cecchetto, Giovanni; Di Cataldo, Andrea; Basso, Eleonora; Indolfi, Paolo; D'Angelo, Paolo; Favini, Francesca; Collini, Paola; Potepan, Paolo; Ferrari, Andrea

2012-05-15

Nasopharyngeal carcinoma (NPC) is very rare in childhood. It differs from its adult counterpart in the prevalence of the nonkeratinizing, undifferentiated subtype and by an advanced clinical stage at onset and better chances of survival. The risk of long-term treatment-related toxicity also may be a more important issue in younger individuals. A prospective chemoradiotherapy protocol for pediatric NPC was started in Italy in 2000 within the framework of the Rare Tumors in Pediatric Age (TREP) project. Three courses of cisplatin/5-fluorouracil induction chemotherapy were followed by radiotherapy (doses up to 65 grays) with concomitant cisplatin. Forty-six patients (ages 9-17 years) were considered eligible for the study over a 10-year period. The ratio of observed to expected cases based on epidemiological data was approximately 1 for both children and adolescents. All but 1 patient had lymph node involvement, and 5 patients had distant metastases. The rate of response to primary chemotherapy was 90%. The 5-year overall and progression-free survival rates were 80.9% and 79.3%, respectively (median follow-up, 62 months). The only statistically significant prognostic variable was the presence or absence of distant metastases. A 65% incidence of late sequelae was reported. This study demonstrates the feasibility and efficacy of a prospective protocol even for such rare tumors as pediatric NPC. The use of lower radiotherapy doses than those used in adults did not affect locoregional failure rates. Long-term follow-up will be needed to obtain more information on both survival and treatment sequelae. The next objective will be to establish broader, international prospective cooperation schemes. Copyright © 2011 American Cancer Society.

Rare adrenal gland incidentaloma: an unusual Ewing's sarcoma family of tumor presentation and literature review.

PubMed

Guo, Hui; Chen, Shuaiqi; Liu, Shukun; Wang, Kaixuan; Liu, Erpeng; Li, Faping; Hou, Yuchuan

2017-04-04

Members of the Ewing's sarcoma family of tumor (ESFT) are malignant neoplasms and rarely observed in the adrenal gland. We report an extremely exceptional case of ESFT rising from the adrenal gland in a 57-year-old Chinese man. The patient was hospitalized with abdominal swelling for 2 months. Computed tomography (CT) scan revealed a nearly-circular mass measuring about 8.1 × 10.6 cm in the right adrenal region. The patient underwent right adrenal resection. Histopathologic examination found the tumor was composed of small round blue cells forming typical Homer-Wright rosettes in focal area. The immunohistochemical analysis confirmed the case to be ESFT, which was positive for membranous CD99 and nuclear FLI-1. The patient was scheduled for four courses of large doses of chemotherapy and died for cancer metastasis one year later after surgery. Histopathological evidence of Homer-Wright rosettes and immunohistochemical markers positivity, such as CD99 and FLI-1, are valuable factors for ESFT diagnosis, although cytogenetic analysis is considered as the gold standard. Complete surgery is the treatment of choice for ESFT and adjuvant radiotherapy and combination chemotherapy can significantly improve the survival rate of postoperative patients.

Adult medulloblastoma: A rare case report and literature review

PubMed Central

Faried, Ahmad; Pribadi, Muhammad A.; Sumargo, Sheila; Arifin, Muhammad Z.; Hernowo, Bethy S.

2016-01-01

Background: Medulloblastoma is a highly malignant embryonal tumor which commonly arises in the cerebellum. It is relatively rare and accounts for less than 2% of all primary brain tumors. The tumor primarily occurs in childhood; however, rarely, it may be found in adult population. In addition, medulloblastoma in adult population shows features which are quite distinct from the pediatric group. Case Description: We report the case of a 33-year-old man who presented to our institution with a history of blurred vision of both eyes for 5 months preceded by intermittent headache since the previous year. Preoperative investigation suggested a posterior fossa mass and we suspected an ependymoma. The patient underwent ventriculoperitoneal shunt and craniotomy tumor removal, followed by radiotherapy. Histopathological and immunohistochemical examination were performed, and the results showed a diagnosis of medulloblastoma. Conclusion: This case is exceptional because adult medulloblastoma occurrence in our center is extremely rare, and the diagnosis can only be established through histopathological and immunohistochemical studies. PMID:27512610

Primary tracheobronchial tumors in children.

PubMed

Varela, Patricio; Pio, Luca; Torre, Michele

2016-06-01

Primary tracheobronchial tumors are rare lesions that can be benign or malignant, with different location along the airway tree. Symptoms may include wheezing, chronic pneumonia, asthma, chest pain, recurrent cough, atelectasis, haemoptysis, and weight loss. Due to the heterogeneity of symptoms, diagnosis can be difficult and the airway involvement can lead progressively to a bronchial or tracheal obstruction. Due to the rarity of primary tracheobronchial tumors in children, there are not any oncological guidelines on pre-operative work-up, treatment, and follow-up. Only few reports and multicentric studies are reported. In most cases, surgical resection seems to be the treatment of choice. Brachytherapy, endoscopic treatment, and chemotherapy are rarely described. In this article we present an overview on these rare tumors, including pathological aspects, clinical presentation, imaging assessment, and endoscopic or open surgical treatments. We discuss different surgical approaches, according with tumor location. Copyright © 2016 Elsevier Inc. All rights reserved.

Clinical Applications of NanoVelcro Rare-Cell Assays for Detection and Characterization of Circulating Tumor Cells

PubMed Central

Chen, Jie-Fu; Zhu, Yazhen; Lu, Yi-Tsung; Hodara, Elisabeth; Hou, Shuang; Agopian, Vatche G.; Tomlinson, James S.; Posadas, Edwin M.; Tseng, Hsian-Rong

2016-01-01

Liquid biopsy of tumor through isolation of circulating tumor cells (CTCs) allows non-invasive, repetitive, and systemic sampling of disease. Although detecting and enumerating CTCs is of prognostic significance in metastatic cancer, it is conceivable that performing molecular and functional characterization on CTCs will reveal unprecedented insight into the pathogenic mechanisms driving lethal disease. Nanomaterial-embedded cancer diagnostic platforms, i.e., NanoVelcro CTC Assays represent a unique rare-cell sorting method that enables detection isolation, and characterization of CTCs in peripheral blood, providing an opportunity to noninvasively monitor disease progression in individual cancer patients. Over the past decade, a series of NanoVelcro CTC Assays has been demonstrated for exploring the full potential of CTCs as a clinical biomarker, including CTC enumeration, phenotyping, genotyping and expression profiling. In this review article, the authors will briefly introduce the development of three generations of NanoVelcro CTC Assays, and highlight the clinical applications of each generation for various types of solid cancers, including prostate cancer, pancreatic cancer, lung cancer, and melanoma. PMID:27375790

High Grade Serous Cystadenocarcinoma of Testis-Case Report of a Rare Ovarian Epithelial Type Tumour

PubMed Central

Nayanar, Sangeetha K; Varadharajaperumal, R; Satheeshbabu, TV; Balasubramanian, Satheesan

2017-01-01

Ovarian epithelial type tumour of testis are extremely rare tumours that resemble ovarian surface epithelial tumours. They usually present as testicular or paratesticular tumours and can be serous, mucinous, endometrioid or Brenner tumour. Serous and mucinous types account for the majority of tumours. The tumours are benign, borderline or malignant, commonly borderline. Here, we report a case of high grade serous cyst adenocarcinoma of testis which manifested as extensive metastasis in supraclavicular, mediastinal and abdominopelvic groups of lymph nodes, lung and adrenal gland without clinical evidence of an overt primary tumour. We report this case so as to make clinicians and pathologists aware of this rare entity and to stress on the fact that this rare entity should be kept in mind when evaluating cases of metastatic adenocarcinoma in male patients. PMID:28764180

Cesarean section after abdominal mesh repair for pregnancy-related desmoid tumor: a case report

PubMed Central

Ooi, Sara; Ngo, Harry

2017-01-01

We report the case of a 32-year-old gravida 2 para 1 woman with a background of partially resected desmoid tumor (DT) arising from the previous cesarean section (CS) scar. This case details the management of her DT by surgical resection and mesh repair and second pregnancy following this. Pregnancy-related DTs are a relatively rare entity, and there is a paucity of literature regarding their management during pregnancy. There are only five reported cases of DTs arising from CS scars. To our knowledge, this is the only report to illustrate that subsequent CS is possible after desmoid resection and abdominal mesh repair. It provides evidence that CS can be safely accomplished following abdominal wall reconstructions and further arguments against elective lower segment CS. PMID:28744163

Cesarean section after abdominal mesh repair for pregnancy-related desmoid tumor: a case report.

PubMed

Ooi, Sara; Ngo, Harry

2017-01-01

We report the case of a 32-year-old gravida 2 para 1 woman with a background of partially resected desmoid tumor (DT) arising from the previous cesarean section (CS) scar. This case details the management of her DT by surgical resection and mesh repair and second pregnancy following this. Pregnancy-related DTs are a relatively rare entity, and there is a paucity of literature regarding their management during pregnancy. There are only five reported cases of DTs arising from CS scars. To our knowledge, this is the only report to illustrate that subsequent CS is possible after desmoid resection and abdominal mesh repair. It provides evidence that CS can be safely accomplished following abdominal wall reconstructions and further arguments against elective lower segment CS.

Renal Clear Cell Sarcoma - Anaplastic Variant: A Rare Entity.

PubMed

Walke, Vaishali Atmaram; Shende, Nitin Y; Kumbhalkar, D T

2017-01-01

Clear Cell Sarcoma of Kidney (CCSK) is known for its morphologic diversity, aggressive behaviour, tendency to recur and metastasis to bone. Amongst the various morphologic subtypes, anaplastic CCSK is associated with worse prognosis. Here, we report a case of this rare variant of CCSK. A five-year-old boy presented with history of lump and pain in abdomen since one week. The Computed Tomography (CT) scan revealed a large mass occupying the middle and inferior pole of right kidney. The clinical impression was Wilms tumour. Nephrectomy specimen was received and the diagnosis of CCSK anaplastic variant was offered only after excluding the differentials and after performing ancillary tests such as Immunohistochemistry (IHC). Thus, this case emphasizes the diagnostic challenges on morphology and the essential role of IHC in arriving at a definitive diagnosis, because failure to do so may deprive the child from optimal treatment.

Renal Clear Cell Sarcoma - Anaplastic Variant: A Rare Entity

PubMed Central

Shende, Nitin Y; Kumbhalkar, D T

2017-01-01

Clear Cell Sarcoma of Kidney (CCSK) is known for its morphologic diversity, aggressive behaviour, tendency to recur and metastasis to bone. Amongst the various morphologic subtypes, anaplastic CCSK is associated with worse prognosis. Here, we report a case of this rare variant of CCSK. A five-year-old boy presented with history of lump and pain in abdomen since one week. The Computed Tomography (CT) scan revealed a large mass occupying the middle and inferior pole of right kidney. The clinical impression was Wilms tumour. Nephrectomy specimen was received and the diagnosis of CCSK anaplastic variant was offered only after excluding the differentials and after performing ancillary tests such as Immunohistochemistry (IHC). Thus, this case emphasizes the diagnostic challenges on morphology and the essential role of IHC in arriving at a definitive diagnosis, because failure to do so may deprive the child from optimal treatment. PMID:28273978

Uterine angioleiomyoma: a rare variant of uterine leiomyoma.

PubMed

Garg, Garima; Mohanty, Sambit K

2014-08-01

Uterine angioleiomyoma is an extremely rare and unique variant of leiomyoma. It usually occurs in middle-aged women, who commonly present with menorrhagia, abdominal pain, or abdominal mass. The lesions are either single or multiple and manifest as submucosal, intramural, or subserosal whorled nodules. Microscopy of the individual nodule shows interlacing fascicles of spindle cells swirling around thick-walled blood vessels. Angioleiomyoma usually lacks mitotic figures, pleomorphism, or necrosis, although cases with marked nuclear atypia and multinucleated giant cells have been reported. The tumor cells are immunoreactive for smooth muscle actin, desmin, h-caldesmon, and progesterone receptor, with a low Ki-67 labeling index. Because these lesions are vascular, they may undergo spontaneous rupture and pose a life-threatening emergency, especially in pregnancy. There are no specific imaging findings; therefore, a preoperative diagnosis is extremely difficult. It is important to recognize this entity and differentiate it from a malignancy, particularly when angioleiomyoma shows significant cytologic atypia or raised cancer antigen 125 levels by thorough sampling. When required, a proper immunohistochemical panel should be used to arrive at a correct diagnosis. In this review, we discuss the current knowledge on uterine angioleiomyoma and its clinical relevance.

Proliferating Myositis: An Inflammatory Lesion often Misdiagnosed as A Malignant Tumor.

PubMed

Binesh, Fariba; Sobhanardekani, Mohammad; Zabihi, Somayeh; Behniafard, Nasim

2016-12-01

Proliferative myositis (PM) is a rare inflammatory disease. Most commonly, the lesion occurs in the extremities. Regarding its fast growth and bizarre shape of the cellular components this entity commonly misdiagnosed and the patients undergo improper therapeutic approaches. In other words, it is often misdiagnosed as sarcoma. The diagnosis can only be made by the microscopic examination, so biopsy is mandatory. Here the authors report a patient with PM who was initially misdiagnosed as pleomorphic sarcoma of the lower extremity and explain this rare entity. Proliferative myositis should be taken into account if a fast growing, intramuscular mass occurs in the extremities.

Liberal Entity Extraction: Rapid Construction of Fine-Grained Entity Typing Systems.

PubMed

Huang, Lifu; May, Jonathan; Pan, Xiaoman; Ji, Heng; Ren, Xiang; Han, Jiawei; Zhao, Lin; Hendler, James A

2017-03-01

The ability of automatically recognizing and typing entities in natural language without prior knowledge (e.g., predefined entity types) is a major challenge in processing such data. Most existing entity typing systems are limited to certain domains, genres, and languages. In this article, we propose a novel unsupervised entity-typing framework by combining symbolic and distributional semantics. We start from learning three types of representations for each entity mention: general semantic representation, specific context representation, and knowledge representation based on knowledge bases. Then we develop a novel joint hierarchical clustering and linking algorithm to type all mentions using these representations. This framework does not rely on any annotated data, predefined typing schema, or handcrafted features; therefore, it can be quickly adapted to a new domain, genre, and/or language. Experiments on genres (news and discussion forum) show comparable performance with state-of-the-art supervised typing systems trained from a large amount of labeled data. Results on various languages (English, Chinese, Japanese, Hausa, and Yoruba) and domains (general and biomedical) demonstrate the portability of our framework.

Liberal Entity Extraction: Rapid Construction of Fine-Grained Entity Typing Systems

PubMed Central

Huang, Lifu; May, Jonathan; Pan, Xiaoman; Ji, Heng; Ren, Xiang; Han, Jiawei; Zhao, Lin; Hendler, James A.

2017-01-01

Abstract The ability of automatically recognizing and typing entities in natural language without prior knowledge (e.g., predefined entity types) is a major challenge in processing such data. Most existing entity typing systems are limited to certain domains, genres, and languages. In this article, we propose a novel unsupervised entity-typing framework by combining symbolic and distributional semantics. We start from learning three types of representations for each entity mention: general semantic representation, specific context representation, and knowledge representation based on knowledge bases. Then we develop a novel joint hierarchical clustering and linking algorithm to type all mentions using these representations. This framework does not rely on any annotated data, predefined typing schema, or handcrafted features; therefore, it can be quickly adapted to a new domain, genre, and/or language. Experiments on genres (news and discussion forum) show comparable performance with state-of-the-art supervised typing systems trained from a large amount of labeled data. Results on various languages (English, Chinese, Japanese, Hausa, and Yoruba) and domains (general and biomedical) demonstrate the portability of our framework. PMID:28328252

Renal cell tumors with clear cell histology and intact VHL and chromosome 3p: a histological review of tumors from the Cancer Genome Atlas database.

PubMed

Favazza, Laura; Chitale, Dhananjay A; Barod, Ravi; Rogers, Craig G; Kalyana-Sundaram, Shanker; Palanisamy, Nallasivam; Gupta, Nilesh S; Williamson, Sean R

2017-11-01

Clear cell renal cell carcinoma is by far the most common form of kidney cancer; however, a number of histologically similar tumors are now recognized and considered distinct entities. The Cancer Genome Atlas published data set was queried (http://cbioportal.org) for clear cell renal cell carcinoma tumors lacking VHL gene mutation and chromosome 3p loss, for which whole-slide images were reviewed. Of the 418 tumors in the published Cancer Genome Atlas clear cell renal cell carcinoma database, 387 had VHL mutation, copy number loss for chromosome 3p, or both (93%). Of the remaining, 27/31 had whole-slide images for review. One had 3p loss based on karyotype but not sequencing, and three demonstrated VHL promoter hypermethylation. Nine could be reclassified as distinct or emerging entities: translocation renal cell carcinoma (n=3), TCEB1 mutant renal cell carcinoma (n=3), papillary renal cell carcinoma (n=2), and clear cell papillary renal cell carcinoma (n=1). Of the remaining, 6 had other clear cell renal cell carcinoma-associated gene alterations (PBRM1, SMARCA4, BAP1, SETD2), leaving 11 specimens, including 2 high-grade or sarcomatoid renal cell carcinomas and 2 with prominent fibromuscular stroma (not TCEB1 mutant). One of the remaining tumors exhibited gain of chromosome 7 but lacked histological features of papillary renal cell carcinoma. Two tumors previously reported to harbor TFE3 gene fusions also exhibited VHL mutation, chromosome 3p loss, and morphology indistinguishable from clear cell renal cell carcinoma, the significance of which is uncertain. In summary, almost all clear cell renal cell carcinomas harbor VHL mutation, 3p copy number loss, or both. Of tumors with clear cell histology that lack these alterations, a subset can now be reclassified as other entities. Further study will determine whether additional entities exist, based on distinct genetic pathways that may have implications for treatment.

Relatedness-based Multi-Entity Summarization

PubMed Central

Gunaratna, Kalpa; Yazdavar, Amir Hossein; Thirunarayan, Krishnaprasad; Sheth, Amit; Cheng, Gong

2017-01-01

Representing world knowledge in a machine processable format is important as entities and their descriptions have fueled tremendous growth in knowledge-rich information processing platforms, services, and systems. Prominent applications of knowledge graphs include search engines (e.g., Google Search and Microsoft Bing), email clients (e.g., Gmail), and intelligent personal assistants (e.g., Google Now, Amazon Echo, and Apple’s Siri). In this paper, we present an approach that can summarize facts about a collection of entities by analyzing their relatedness in preference to summarizing each entity in isolation. Specifically, we generate informative entity summaries by selecting: (i) inter-entity facts that are similar and (ii) intra-entity facts that are important and diverse. We employ a constrained knapsack problem solving approach to efficiently compute entity summaries. We perform both qualitative and quantitative experiments and demonstrate that our approach yields promising results compared to two other stand-alone state-of-the-art entity summarization approaches. PMID:29051696

Paratesticular aggressive angiomyxoma: A rare case

PubMed Central

Ismail, Muhamad Izwan; Wong, Yin Ping; Tan, Guan Hee; Fam, Xeng Inn

2017-01-01

Aggressive angiomyxoma (AAM) particularly testicular origin is a rare benign mesenchymal myxoid tumor which is locally aggressive, blatant for local recurrence, and may metastasize. It occurs mostly in females of childbearing age and extremely rare in males. AMM particular testicular origin is not reported in literature yet. This is a 65-year-old man who had a right scrotal swelling. Ultrasound scrotum showed a soft tissue tumor of the right testis. The patient underwent radical right orchidectomy of which histopathologically confirmed to be a paratesticular AAM with clear resection margins. There were no signs of local recurrence or metastasis 2 years postsurgical resection. PMID:28479778

13 CFR 130.200 - Eligible entities.

Code of Federal Regulations, 2011 CFR

2011-01-01

... 13 Business Credit and Assistance 1 2011-01-01 2011-01-01 false Eligible entities. 130.200 Section... CENTERS § 130.200 Eligible entities. (a) Recipient Organization. The following entities are eligible to... community or junior college; (5) An entity formed by two or more of the above entities; or (6) Any entity...

[Tumor and tumor-like benign mesenchymal lesions of the breast].

PubMed

Bisceglia, M; Nirchio, V; Carosi, I; Cappucci, U; Decata, A; Paragone, T; Di Mattia, A L

1995-02-01

All the spectrum is encompassed of those miscellaneous pathologic entities occurring in the mammary stroma which are on record up to date other than "mixed fibroepithelial" tumors (fibroadenomas and phyllodes tumors) and tumors both "pure" and "mixed" originating from myoepithelium (adenomyoepitheliomas and pleomorphic adenomas). Also they were excluded those dysreactive-autoimmune diseases (sarcoidosis, sclerosing lymphocytic lobulitis, lobular granulomatous mastitis) and those inflammatory-infectious conditions (tuberculosis, actinomycosis, foreign body reactions, Mondor's disease) which can mimick breast tumors clinically or on image analysis, but on the contrary not evoking the idea of a tumor on histology. Specifically, inflammatory pseudotumor, myofibroblastoma, leiomyoma, neurinoma/neurofibroma, benign fibrous histiocytoma, hemangiopericytoma, fibromatosis, nodular fascitis, variants of lipoma, mesenchymoma, amartoma and its variants, hemangiomas, pseudoangiomatous hyperplasia of stroma, amyloid tumor, granular cell tumor, are consecutively described and discussed, with a large list of references enclosed to each rubric. Most of the pictures are taken from personally observed lesions of the breast. Only few pictures referred to are from their analogue lesions which occurred in soft parts of other locations, with specific mention of that when it was the case. Of note after reviewing the literature the fact that no glomus tumor, nor Kaposi's sarcoma either sporadic or in the context of any immunodeficiency, nor myelolipoma has been recorded yet.

31 CFR 575.304 - Entity of the Government of Iraq; Iraqi Government entity.

Code of Federal Regulations, 2010 CFR

2010-07-01

... 31 Money and Finance: Treasury 3 2010-07-01 2010-07-01 false Entity of the Government of Iraq; Iraqi Government entity. 575.304 Section 575.304 Money and Finance: Treasury Regulations Relating to... SANCTIONS REGULATIONS General Definitions § 575.304 Entity of the Government of Iraq; Iraqi Government...

Multifocal Epithelial Hyperplasia of Oral Cavity Expressing HPV 16 Gene: A Rare Entity

PubMed Central

Prabhat, M. P. V.; Raja Lakshmi, Chintamaneni; Sai Madhavi, N.; Bhavana, Sujana Mulk; Sarat, Gummadapu; Ramamohan, Kodali

2013-01-01

Focal epithelial hyperplasia is a rare contagious disease caused by human papilloma virus. Usually HPV involves either cutaneous or mucosal surfaces, whereas concomitant mucocutaneous involvement is extremely rare. We report such a unique case of multifocal epithelial hyperplasia involving multiple sites of oral cavity along with skin lesions in a 65-year-old female. We also discuss the probable multifactorial etiology and variable clinical presentations of the lesions, including evidence of HPV 16 expression, as detected by polymerase chain reaction. The present report illustrates the need for careful examination and prompt diagnosis of the disease, as it might be associated with high risk genotypes such as HPV 16 and 18. PMID:24455323

The primary fallopian tube carcinoma: a rare association with pelvic nodal tuberculosis

PubMed Central

Mamouni, Nisrine; Saadi, Hanane; belfatemi, Hinde; Erraghay, Sanaa; Bouchikhi, Chahrazade; Banani, Abdelaziz

2017-01-01

The primary carcinoma of fallopian tube is a rare entity. It represents 0.14 to 1.81% of genital cancers in women. It is a cancer of older women. Its association with tuberculosis is exceptional. We report a rare case of bilateral serous adenocarcinoma of the fallopian tube in a patient aged 42 years, multiparous, whose characteristic is the unexpected association with peritoneal tuberculosis. PMID:29541309

Phosphaturic mesenchymal tumor of the brain without tumor-induced osteomalacia in an 8-year-old girl: case report.

PubMed

Ellis, Mark B; Gridley, Daniel; Lal, Suresh; Nair, Geetha R; Feiz-Erfan, Iman

2016-05-01

Phosphaturic mesenchymal tumor (mixed connective tissue variant) (PMT-MCT) are tumors that may cause tumor-induced osteomalacia and rarely appear intracranially. The authors describe the case of an 8-year-old girl who was found to have PMT-MCT with involvement of the cerebellar hemisphere and a small tumor pedicle breaching the dura mater and involving the skull. This was removed surgically in gross-total fashion without further complication. Histologically the tumor was confirmed to be a PMT-MCT. There was no evidence of tumor-induced osteomalacia. At the 42-month follow-up, the patient is doing well, has no abnormalities, and is free of recurrence. PMT-MCTs are rare tumors that may involve the brain parenchyma. A gross-total resection may be effective to cure these lesions.

Infrasellar craniopharyngioma of the posterior nasal septum: a rare entity.

PubMed

Chiun, Kian Chai; Tang, Ing Ping; Vikneswaran, Tharumalingam; Nurshaline Pauline, H Kipli

2012-02-01

To report an unusual location of infrasellar craniopharyngioma in a peadiatric patient. A six-year-old boy presented with persistent bilateral nasal obstruction for one year. Clinical examination revealed a posterior choanal mass arising from septum and the finding was confirmed by paranasal sinuses computed tomography scan. He then underwent wide local excision. Histopathological examination confirmed the diagnosis of craniopharyngioma (adamantinomatous type). There were no signs and symptoms of recurrence after a year of followup. Infracranial craniopharyngioma without sellar involvement is extremely rare. Persistent nasal obstruction without endocrine dysfunction is the common presentation. Radiological imaging is important to diagnose and assess the extent. The mainstay of treatment for infrasellar craniopharyngioma is surgery. Regular follow up is mandatory.

Desmoid tumors of the abdominal wall: A case report

PubMed Central

Overhaus, Marcus; Decker, Pan; Fischer, Hans Peter; Textor, Hans Jochen; Hirner, Andreas

2003-01-01

Background Desmoid tumors are slow growing deep fibromatoses with aggressive infiltration of adjacent tissue but without any metastatic potential. Case Presentation We report on two female patients with desmoid tumor of the abdominal wall who underwent primary resection. Both patients had a history of an earlier abdominal surgery. Preoperative evaluation included abdominal ultrasound, magnetic resonance imaging and computed tomography. The histology in both cases revealed a desmoid tumor. Conclusion Complete surgical resection is the first line management of this tumor entity. PMID:12890284

31 CFR 800.211 - Entity.

Code of Federal Regulations, 2011 CFR

2011-07-01

... 31 Money and Finance:Treasury 3 2011-07-01 2011-07-01 false Entity. 800.211 Section 800.211 Money... FOREIGN PERSONS Definitions § 800.211 Entity. The term entity means any branch, partnership, group or sub... separate legal entity) operated by any one of the foregoing as a business undertaking in a particular...

Acute esophageal necrosis and liver pathology, a rare combination

PubMed Central

Khan, Amir Maqbul; Hundal, Rangit; Ramaswamy, Vijaya; Korsten, Mark; Dhuper, Sunil

2004-01-01

Acute esophageal necrosis (AEN) or “black esophagus” is a clinical condition found at endoscopy. It is a rare entity the exact etiology of which remains unknown. We describe a case of ‘black esophagus’, first of its kind, in the setting of liver cirrhosis and hepatic encephalopathy. PMID:15285044

An Integrated Microfluidic Chip System for Single-Cell Secretion Profiling of Rare Circulating Tumor Cells

PubMed Central

Deng, Yuliang; Zhang, Yu; Sun, Shuai; Wang, Zhihua; Wang, Minjiao; Yu, Beiqin; Czajkowsky, Daniel M.; Liu, Bingya; Li, Yan; Wei, Wei; Shi, Qihui

2014-01-01

Genetic and transcriptional profiling, as well as surface marker identification of single circulating tumor cells (CTCs) have been demonstrated. However, quantitatively profiling of functional proteins at single CTC resolution has not yet been achieved, owing to the limited purity of the isolated CTC populations and a lack of single-cell proteomic approaches to handle and analyze rare CTCs. Here, we develop an integrated microfluidic system specifically designed for streamlining isolation, purification and single-cell secretomic profiling of CTCs from whole blood. Key to this platform is the use of photocleavable ssDNA-encoded antibody conjugates to enable a highly purified CTC population with <75 ‘contaminated' blood cells. An enhanced poly-L-lysine barcode pattern is created on the single-cell barcode chip for efficient capture rare CTC cells in microchambers for subsequent secreted protein profiling. This system was extensively evaluated and optimized with EpCAM-positive HCT116 cells seeded into whole blood. Patient blood samples were employed to assess the utility of the system for isolation, purification and single-cell secretion profiling of CTCs. The CTCs present in patient blood samples exhibit highly heterogeneous secretion profile of IL-8 and VEGF. The numbers of secreting CTCs are found not in accordance with CTC enumeration based on immunostaining in the parallel experiments. PMID:25511131

An integrated microfluidic chip system for single-cell secretion profiling of rare circulating tumor cells.

PubMed

Deng, Yuliang; Zhang, Yu; Sun, Shuai; Wang, Zhihua; Wang, Minjiao; Yu, Beiqin; Czajkowsky, Daniel M; Liu, Bingya; Li, Yan; Wei, Wei; Shi, Qihui

2014-12-16

Genetic and transcriptional profiling, as well as surface marker identification of single circulating tumor cells (CTCs) have been demonstrated. However, quantitatively profiling of functional proteins at single CTC resolution has not yet been achieved, owing to the limited purity of the isolated CTC populations and a lack of single-cell proteomic approaches to handle and analyze rare CTCs. Here, we develop an integrated microfluidic system specifically designed for streamlining isolation, purification and single-cell secretomic profiling of CTCs from whole blood. Key to this platform is the use of photocleavable ssDNA-encoded antibody conjugates to enable a highly purified CTC population with <75 'contaminated' blood cells. An enhanced poly-L-lysine barcode pattern is created on the single-cell barcode chip for efficient capture rare CTC cells in microchambers for subsequent secreted protein profiling. This system was extensively evaluated and optimized with EpCAM-positive HCT116 cells seeded into whole blood. Patient blood samples were employed to assess the utility of the system for isolation, purification and single-cell secretion profiling of CTCs. The CTCs present in patient blood samples exhibit highly heterogeneous secretion profile of IL-8 and VEGF. The numbers of secreting CTCs are found not in accordance with CTC enumeration based on immunostaining in the parallel experiments.

Warthin tumor of the upper lip: an unusual location of a benign salivary gland tumor.

PubMed

dos Santos Almeida, Aroldo; Costa Hanemann, João Adolfo; Tostes Oliveira, Denise

2011-06-01

Warthin tumor (papillary cystadenoma lymphomatosum) is a benign salivary gland tumor involving almost exclusively the parotid gland. The lip is a very unusual location for this type of tumor, which develops only rarely in minor salivary glands. The case of 42-year-old woman with Warthin tumor arising in minor salivary glands of the upper lip is reported.

Malignant Mixed Tumor of the Finger: A Case Report.

PubMed

Nakanishi, Akito; Honoki, Kanya; Omokawa, Shohei; Tanaka, Yasuhito

2018-06-01

We present a very rare case of malignant chondroid syringoma of the fingertip in a 44-year-old man that was reconstruced by neurovascular island flap after the complete tumor resection of the fingertip. Although it is a rare tumor at an unusual area, it should be included in the differential diagnosis of the finger tumors.

Solitary Fibrous Tumor Arising from Stomach: CT Findings

PubMed Central

Park, Sung Hee; Kwon, Jieun; Park, Jong-pil; Park, Mi-Suk; Lim, Joon Seok; Kim, Joo Hee; Kim, Ki Whang

2007-01-01

Solitary fibrous tumors are spindle-cell neoplasms that usually develop in the pleura and peritoneum, and rarely arise in the stomach. To our knowledge, there is only one case reporting a solitary fibrous tumor arising from stomach in the English literature. Here we report the case of a 26-year-old man with a large solitary fibrous tumor arising from the stomach which involved the submucosa and muscular layer and resembled a gastrointestinal stromal tumor in the stomach, based on what was seen during abdominal computed tomography. A solitary fibrous tumor arising from the stomach, although rare, could be considered as a diagnostic possibility for gastric submucosal tumors. PMID:18159603

22 CFR 96.5 - Requirement that accrediting entity be a nonprofit or public entity.

Code of Federal Regulations, 2010 CFR

2010-04-01

... administering standards for entities providing child welfare services; or (b) A public entity (other than a... political subdivision, agency, or instrumentality thereof, that is responsible for licensing adoption agencies in a State and that has expertise in developing and administering standards for entities providing...

[Malignant vascular tumors of the vulva].

PubMed

Chokoeva, A; Tchernev, G

2015-01-01

Due to the increased vascularity as well as the unique anatomical structure, vascular lesions, which occur in the female reproductive system are common observed and diverse by their morphology. The majority of them are benign, including vascular malformations, lesions due to vascular hyperplasia, tumors with significant vascular component and others. Malignant vascular tumors are rare in the area of the vulva accounting about 1% of all vulvar lesions with vascular origin. Kaposi sarcoma, epithelioid hemangioepithelioma and epithelioid angiosarcoma have been reported with vulvar localization. With a view to their rare incidence, nonspecific clinical manifestation and aggressive behavior associated with high mortality, we present the most common malignant tumors of vascular origin arising in the vulva, as we emphasize on their epidemiology and clinical features, differential diagnosis and therapeutic algorithms for this rare type of malignancies.

[Undifferentiated soft tissue tumor with rhabdoid phenotype (extra-renal rhabdoid tumor). Report of a congenital case associated with medulloblastoma in a brother].

PubMed

Costes, V; Medioni, D; Durand, L; Sarran, N; Marguerite, G; Baldet, P

1997-03-01

We report a case of congenital cervical rhabdoid tumor with association of a medulloblastoma in a brother. The immunohistochemical features of this tumor are compatible with a neuroectodermal differentiation (MIC 2+, Leu 7+). Extrarenal rhabdoid tumors share a common morphology but do not represent a single entity with only one histogenesis. Most of them are now considered to be of neuroectodermal origin. In our case, the association with a medulloblastoma in a brother seems to confirm this concept.

Diagnosis and treatment of solid pseudopapillary tumor of the pancreas: experience of one single institution from Turkey

PubMed Central

2013-01-01

Background Solid pseudopapillary neoplasia (SPN) of the pancreas is an extremely rare epithelial tumor of low malignant potential. SPN accounts for less than 1% to 2% of exocrine pancreatic tumors. The aim of this study is to report our experience with SPN of the pancreas. It includes a summary of the current literature to provide a reference for the management of this rare clinical entity. Methods A retrospective analysis was performed of all patients diagnosed and treated for SPN in our hospital over the past 15 years (1998 to 2013). A database of the characteristics of these patients was developed, including age, gender, tumor location and size, treatment, and histopathological and immunohistochemical features. Results During this time period, 255 patients with pancreatic malignancy (which does not include ampulla vateri, distal choledocal and duodenal tumor) were admitted to our department, only 10 of whom were diagnosed as having SPN (2.5%). Nine patients were women (90%) and one patient was a man (10%). Their median age was 38.8 years (range 18 to 71). The most common symptoms were abdominal pain and dullness. Seven patients (70%) presented with abdominal pain or abdominal dullness and three patient (30%) were asymptomatic with the diagnosis made by an incidental finding on routine examination. Abdominal computed tomography and/or magnetic resonance imaging showed the typical features of solid pseudopapillary neoplasm in six (60%) of the patients. Four patients underwent distal pancreatectomy with splenectomy, one patient underwent a total mass excision, and one patient underwent total pancreatic resection. Two required extended distal pancreatectomy with splenectomy. Two underwent spleen-preserving distal pancreatectomy. Conclusions SPN is a rare neoplasm that primarily affects young women. The prognosis is favorable even in the presence of distant metastasis. Although surgical resection is generally curative, a close follow-up is advised in order to

Cytomorphology of unusual infectious entities in the Pap test

PubMed Central

Khalbuss, Walid E.; Michelow, Pam; Benedict, Cynthia; Monaco, Sara E.; Pantanowitz, Liron

2012-01-01

Rare entities in the Pap test, including neoplastic and non-neoplastic conditions, pose challenges due to their infrequent occurrence in the daily practice of cytology. Furthermore, these conditions give rise to important diagnostic pitfalls. Infections such as tuberculosis cervicitis may be erroneously diagnosed as carcinoma, whereas others, such as schistosomiasis, are associated with squamous cell carcinoma. These cases include granuloma inguinale (donovanosis), tuberculosis, coccidioidomycosis, schistosomiasis, taeniasis, and molluscum contagiosum diagnosed in Pap tests. Granuloma inguinale shows histiocytes that contain intracytoplasmic bacteria (Donovan bodies). Tuberculosis is characterized by necrotizing granulomatous inflammation with Langhans-multinucleated giant cells. Coccidioidomycosis may show large intact or ruptured fungal spherules associated with endospores. Schistosoma haematobium is diagnosed by finding characteristic ova with a terminal spine. Molluscum contagiosum is characterized by the appearance of squamous cells with molluscum bodies. This article reviews the cytomorphology of selected rare infections and focuses on their cytomorphology, differential diagnosis, and role of ancillary diagnostic studies. PMID:22919422

Osteolytic Bone Lesions - A Rare Presentation of AML M6.

PubMed

Geetha, N; Sreelesh, K P; Priya, M J; Lali, V S; Rekha, N

2015-01-01

Acute myeloid leukemia (AML) M6 is a rare form of AML accounting for < 5 % of all AML. Extramedullary involvement is very rarely seen in this entity. Skeletal lesion has not been described in AML M6 before. We discuss the case of a 17 year old boy with AML M6, who presented with osteolytic lesion of right humerus. He was treated with induction and consolidation chemotherapy. The present case is the first report in literature of AML M6 presenting with skeletal lesions.

Rare case of pancreatic cancer with leptomeningeal carcinomatosis

PubMed Central

Yoo, In Kyung; Lee, Hong Sik; Kim, Chang Duk; Chun, Hoon Jai; Jeen, Yoon Tae; Keum, Bora; Kim, Eun Sun; Choi, Hyuk Soon; Lee, Jae Min; Kim, Seung Han; Nam, Seung Joo; Hyun, Jong Jin

2015-01-01

Leptomeningeal carcinomatosis occurs very rarely in patients with pancreatic cancer. Leptomeningeal carcinomatosis is characterized by multifocal seeding of the leptomeninges by malignant cells that originate from a solid tumor. To the best of our knowledge, brain metastasis from pancreatic cancer is extremely rare. Leptomeningeal carcinomatosis is estimated to occur in 3% to 8% of cases of solid tumors. The clinical manifestation usually involves neurological symptoms, including dizziness, headache, vomiting, nausea, and hemiparesis, symptoms similar to those of meningitis or brain tumors. Diagnostic methods for leptomeningeal carcinomatosis include brain magnetic resonance imaging and cerebrospinal fluid examination. Here, we describe a case of leptomeningeal carcinomatosis in which the primary tumor was later determined to be pancreatic cancer. Brain magnetic resonance imaging findings showed mild enhancement of the leptomeninges, and cerebrospinal fluid cytology was negative at first. However, after repeated spinal taps, atypical cells were observed on cerebrospinal fluid analysis and levels of tumor markers such as carbohydrate antigen 19-9 in cerebrospinal fluid were elevated. Abdominal computed tomography, performed to determine the presence of extracerebral tumors, revealed pancreatic cancer. Pancreatic cancer was confirmed histopathologically on examination of an endoscopic ultrasound-guided fine needle aspiration specimen. PMID:25624740

Unclassified mixed germ cell-sex cord-stromal tumor with multiple malignant cellular elements in a young woman: a case report and review of the literature.

PubMed

Pang, Shujie; Zhang, Lin; Shi, Yiquan; Liu, Yixin

2014-01-01

Unclassified mixed germ cell-sex cord-stromal tumor composed of germ cells and sex cord derivatives is a rare neoplasm. Approximately 10% of such tumors have malignant germ cell components. We report the case of a 28 year-old female with a right adnexal mass measuring 8 cm in greatest dimension, containing areas with both germ cell and sex cord components. The germ cell portion contained multiple growth patterns with a malignant appearance, while the sex cord element consisted mainly of annular tubules. Within the malignant germ cell elements was a dysgerminoma that accounted for approximately 75% of the tumor volume. Other malignant germ cell elements included yolk sac tumor, embryonal carcinoma, and choriocarcinoma, which comprised about 15% of the tumor volume. The annular tubule structures comprised about 10% of the total tumor volume. To our knowledge, this is the first case reported in the literature of an unclassified mixed germ cell-sex cord-stromal tumor associated with embryonal carcinoma components. The patient had a 46XX karyotype, regular menstrual periods, and no evidence of gross abnormalities in the contralateral ovary. The patient remained clinically well and disease-free 2 years after surgery. In addition to a thorough case description, the literature concerning this entity is reviewed and discussed.

31 CFR 575.303 - Entity.

Code of Federal Regulations, 2010 CFR

2010-07-01

... 31 Money and Finance: Treasury 3 2010-07-01 2010-07-01 false Entity. 575.303 Section 575.303 Money... CONTROL, DEPARTMENT OF THE TREASURY IRAQI SANCTIONS REGULATIONS General Definitions § 575.303 Entity. The term entity includes a corporation, partnership, association, or other organization. ...

7 CFR 1738.16 - Eligible entities.

Code of Federal Regulations, 2010 CFR

2010-01-01

... 7 Agriculture 11 2010-01-01 2010-01-01 false Eligible entities. 1738.16 Section 1738.16... Eligible entities. (a) RUS makes broadband loans to legally organized entities providing, or proposing to provide, broadband services in eligible rural communities. (1) Types of eligible entities include...

7 CFR 1738.16 - Eligible entities.

Code of Federal Regulations, 2011 CFR

2011-01-01

... 7 Agriculture 11 2011-01-01 2011-01-01 false Eligible entities. 1738.16 Section 1738.16... Eligible entities. (a) RUS makes broadband loans to legally organized entities providing, or proposing to provide, broadband services in eligible rural communities. (1) Types of eligible entities include...

7 CFR 63.4 - Eligible entity.

Code of Federal Regulations, 2011 CFR

2011-01-01

... 7 Agriculture 3 2011-01-01 2011-01-01 false Eligible entity. 63.4 Section 63.4 Agriculture Regulations of the Department of Agriculture (Continued) AGRICULTURAL MARKETING SERVICE (Standards... IMPROVEMENT CENTER General Provisions Definitions § 63.4 Eligible entity. Eligible entity means an entity that...

Cutaneous microcystic/reticular schwannoma: a poorly recognized entity.

PubMed

Luzar, Boštjan; Tanaka, Maiko; Schneider, Johann; Calonje, Eduardo

2016-02-01

Microcystic/ reticular schwannoma is exceptionally rare yet distinctive morphological variant of schwannoma with predilection for visceral sites lacking association with neurofibromatosis. To further delineate clinicopathological features of cutaneous microcystic/reticular schwannoma and to discuss its differential diagnosis. We analyzed three cutaneous microcystic/reticular schwannomas, occurring in two males and one female (mean age: 37.6 years). The tumors presented as a non-painful slightly raised papule (mean: 0.7 cm) on upper arm (n = 2) and back (n = 1). No recurrences were observed despite marginal excision (mean follow up: 42 months). Histopathologically, a multilobular proliferation was present in the dermis composed of bland tumor cells forming distinctive microcystic, reticular, lace-like or pseudoglandular structures, containing abundant myxoid/mucinous material. By immunohistochemistry, tumor cells lining microcystic structures corresponded to Schwann cells (diffuse S100 positive, variable GFAP positivity). A discontinuous EMA-positive perineurium was present at the periphery of some of the lobules. Cutaneous microcystic/reticular schwannoma expands the spectrum of benign peripheral nerve sheath tumors with reticular morphology encountered in the skin. Other tumors in this group include reticular perineurioma and hybrid tumors with reticular morphology, e.g. reticular perineurioma/schwannoma and reticular perineurioma/neurofibroma. © 2015 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

Ependymal tumors with oligodendroglioma like clear cells: Experience from a tertiary care hospital in Pakistan

PubMed Central

Hashmi, Fauzan Alam; Khan, Muhammad Faheem; Khan, Saad Akhtar; Waqas, Muhammad; Bari, Muhammad Ehsan; Ahmed, Arsalan

2015-01-01

Background: Ependymal tumors with oligodendroglioma like clear cells have never been reported from Pakistan. We aimed to see the features and outcomes of this rare entity. Methods: It was retrospective cohort conducted at the Department of Neurosurgery, Aga Khan University from 2003 to 2013. The medical records and radiology of patients with proven histopathology were reviewed. Analysis was done on SPSS 20. Results: Eleven cases of ependymal tumors with clear cells were found, which equated to 1.5% of the total tumor burden in 11 years. The median age was 49 years. Most common presenting symptom was headache 54.5%. Out of 11 patients, 9 patients had a supratentorial tumor. Magnetic resonance imaging showed hypointense signals on T1 and hyperintense signals on T2-weighted images in all cases. Contrast enhancement was found in 9 patients (77.8%), necrosis and hemorrhage was found in 4 (36%) and 3 (27%) patients, respectively. Immunohistochemistry showed glial fibrillary acidic protein and epithelial membrane antigen positivity in all cases. Ki-67 showed high proliferative index in 6 patients. According to the World Health Organization grading of ependymal tumors, 2 patients had Grade II tumors, and 9 patients had Grade III tumors with clear cells. Gross total resection was achieved in 6 (54.5%) and subtotal resection in 5 patients (45.4%). Recurrence was observed in 9 patients. Six patients died of the disease. Median progression-free survival and overall survival was 8 months and 10 months, respectively. Conclusion: Ependymal tumors with clear cells presented more commonly in Grade III lesions and were more aggressive in behavior with poorer outcome compared to similar studies. PMID:26664928

31 CFR 551.303 - Entity.

Code of Federal Regulations, 2011 CFR

2011-07-01

... 31 Money and Finance:Treasury 3 2011-07-01 2011-07-01 false Entity. 551.303 Section 551.303 Money... CONTROL, DEPARTMENT OF THE TREASURY SOMALIA SANCTIONS REGULATIONS General Definitions § 551.303 Entity. The term entity means a partnership, association, trust, joint venture, corporation, group, subgroup...

31 CFR 537.304 - Entity.

Code of Federal Regulations, 2010 CFR

2010-07-01

... 31 Money and Finance: Treasury 3 2010-07-01 2010-07-01 false Entity. 537.304 Section 537.304 Money... CONTROL, DEPARTMENT OF THE TREASURY BURMESE SANCTIONS REGULATIONS General Definitions § 537.304 Entity. The term entity means a partnership, association, trust, joint venture, corporation, group, subgroup...

31 CFR 548.303 - Entity.

Code of Federal Regulations, 2010 CFR

2010-07-01

... 31 Money and Finance: Treasury 3 2010-07-01 2010-07-01 false Entity. 548.303 Section 548.303 Money... CONTROL, DEPARTMENT OF THE TREASURY BELARUS SANCTIONS REGULATIONS General Definitions § 548.303 Entity. The term entity means a partnership, association, trust, joint venture, corporation, group, subgroup...

31 CFR 551.303 - Entity.

Code of Federal Regulations, 2010 CFR

2010-07-01

... 31 Money and Finance: Treasury 3 2010-07-01 2010-07-01 false Entity. 551.303 Section 551.303 Money... CONTROL, DEPARTMENT OF THE TREASURY SOMALIA SANCTIONS REGULATIONS General Definitions § 551.303 Entity. The term entity means a partnership, association, trust, joint venture, corporation, group, subgroup...

31 CFR 538.303 - Entity.

Code of Federal Regulations, 2010 CFR

2010-07-01

... 31 Money and Finance: Treasury 3 2010-07-01 2010-07-01 false Entity. 538.303 Section 538.303 Money... CONTROL, DEPARTMENT OF THE TREASURY SUDANESE SANCTIONS REGULATIONS General Definitions § 538.303 Entity. The term entity means a partnership, association, trust, joint venture, corporation, or other...

31 CFR 538.303 - Entity.

Code of Federal Regulations, 2011 CFR

2011-07-01

... 31 Money and Finance:Treasury 3 2011-07-01 2011-07-01 false Entity. 538.303 Section 538.303 Money... CONTROL, DEPARTMENT OF THE TREASURY SUDANESE SANCTIONS REGULATIONS General Definitions § 538.303 Entity. The term entity means a partnership, association, trust, joint venture, corporation, or other...

31 CFR 536.303 - Entity.

Code of Federal Regulations, 2011 CFR

2011-07-01

... 31 Money and Finance:Treasury 3 2011-07-01 2011-07-01 false Entity. 536.303 Section 536.303 Money and Finance: Treasury Regulations Relating to Money and Finance (Continued) OFFICE OF FOREIGN ASSETS....303 Entity. The term entity means a partnership, association, corporation, or other organization...

31 CFR 595.303 - Entity.

Code of Federal Regulations, 2011 CFR

2011-07-01

... 31 Money and Finance:Treasury 3 2011-07-01 2011-07-01 false Entity. 595.303 Section 595.303 Money... CONTROL, DEPARTMENT OF THE TREASURY TERRORISM SANCTIONS REGULATIONS General Definitions § 595.303 Entity. The term entity means a partnership, association, corporation, or other organization, group or...

31 CFR 545.303 - Entity.

Code of Federal Regulations, 2010 CFR

2010-07-01

... 31 Money and Finance: Treasury 3 2010-07-01 2010-07-01 false Entity. 545.303 Section 545.303 Money and Finance: Treasury Regulations Relating to Money and Finance (Continued) OFFICE OF FOREIGN ASSETS....303 Entity. The term entity means a partnership, association, corporation, or other organization...

31 CFR 543.304 - Entity.

Code of Federal Regulations, 2011 CFR

2011-07-01

... 31 Money and Finance:Treasury 3 2011-07-01 2011-07-01 false Entity. 543.304 Section 543.304 Money and Finance: Treasury Regulations Relating to Money and Finance (Continued) OFFICE OF FOREIGN ASSETS... Entity. The term entity means a partnership, association, trust, joint venture, corporation, group...

31 CFR 541.303 - Entity.

Code of Federal Regulations, 2010 CFR

2010-07-01

... 31 Money and Finance: Treasury 3 2010-07-01 2010-07-01 false Entity. 541.303 Section 541.303 Money... CONTROL, DEPARTMENT OF THE TREASURY ZIMBABWE SANCTIONS REGULATIONS General Definitions § 541.303 Entity. The term entity means a partnership, association, trust, joint venture, corporation, group, subgroup...

31 CFR 537.304 - Entity.

Code of Federal Regulations, 2011 CFR

2011-07-01

... 31 Money and Finance:Treasury 3 2011-07-01 2011-07-01 false Entity. 537.304 Section 537.304 Money... CONTROL, DEPARTMENT OF THE TREASURY BURMESE SANCTIONS REGULATIONS General Definitions § 537.304 Entity. The term entity means a partnership, association, trust, joint venture, corporation, group, subgroup...

31 CFR 536.303 - Entity.

Code of Federal Regulations, 2010 CFR

2010-07-01

... 31 Money and Finance: Treasury 3 2010-07-01 2010-07-01 false Entity. 536.303 Section 536.303 Money and Finance: Treasury Regulations Relating to Money and Finance (Continued) OFFICE OF FOREIGN ASSETS....303 Entity. The term entity means a partnership, association, corporation, or other organization...

31 CFR 595.303 - Entity.

Code of Federal Regulations, 2010 CFR

2010-07-01

... 31 Money and Finance: Treasury 3 2010-07-01 2010-07-01 false Entity. 595.303 Section 595.303 Money... CONTROL, DEPARTMENT OF THE TREASURY TERRORISM SANCTIONS REGULATIONS General Definitions § 595.303 Entity. The term entity means a partnership, association, corporation, or other organization, group or...

31 CFR 543.304 - Entity.

Code of Federal Regulations, 2010 CFR

2010-07-01

... 31 Money and Finance: Treasury 3 2010-07-01 2010-07-01 false Entity. 543.304 Section 543.304 Money and Finance: Treasury Regulations Relating to Money and Finance (Continued) OFFICE OF FOREIGN ASSETS... Entity. The term entity means a partnership, association, trust, joint venture, corporation, group...

31 CFR 549.303 - Entity.

Code of Federal Regulations, 2011 CFR

2011-07-01

... 31 Money and Finance:Treasury 3 2011-07-01 2011-07-01 false Entity. 549.303 Section 549.303 Money... CONTROL, DEPARTMENT OF THE TREASURY LEBANON SANCTIONS REGULATIONS General Definitions § 549.303 Entity. The term entity means a partnership, association, trust, joint venture, corporation, group, subgroup...

31 CFR 548.303 - Entity.

Code of Federal Regulations, 2011 CFR

2011-07-01

... 31 Money and Finance:Treasury 3 2011-07-01 2011-07-01 false Entity. 548.303 Section 548.303 Money... CONTROL, DEPARTMENT OF THE TREASURY BELARUS SANCTIONS REGULATIONS General Definitions § 548.303 Entity. The term entity means a partnership, association, trust, joint venture, corporation, group, subgroup...

31 CFR 541.303 - Entity.

Code of Federal Regulations, 2011 CFR

2011-07-01

... 31 Money and Finance:Treasury 3 2011-07-01 2011-07-01 false Entity. 541.303 Section 541.303 Money... CONTROL, DEPARTMENT OF THE TREASURY ZIMBABWE SANCTIONS REGULATIONS General Definitions § 541.303 Entity. The term entity means a partnership, association, trust, joint venture, corporation, group, subgroup...

Giant cell tumor of the clavicle: report of a case in a rare location with consideration of surgical method.

PubMed

Nagano, Satoshi; Tsuchimochi, Toru; Yokouchi, Masahiro; Setoguchi, Takao; Sasaki, Hiromi; Shimada, Hirofumi; Nakamura, Shunsuke; Ishidou, Yasuhiro; Yamamoto, Takuya; Komiya, Setsuro

2015-06-12

Most bone tumors that occur in the clavicle are malignant. A few giant cell tumors (GCTs) of the clavicle have been reported; however, the most appropriate operative method for this tumor has never been discussed. A 54-year-old man noticed enlargement of the proximal aspect of the right clavicle. A plain X-ray revealed lytic change and ballooning of the proximal end of the right clavicle. The tumor was isointense on T1-weighted magnetic resonance images and showed a mixture of low- and high-intensity areas on T2-weighted images without extension to the surrounding soft tissues. Bone scintigraphy showed strong accumulation (normal/tumor ratio, 2.31), and positron emission tomography revealed strong uptake of fluorine-18-2-fluoro-2-deoxy-d-glucose (SUVmax, 6.0) in the proximal part of the right clavicle. Because we could not completely exclude malignancy, an open biopsy was performed. Pathologically, the tumor comprised mononuclear stromal cells and multinuclear giant cells, resulting in a diagnosis of a GCT of the bone. Although curettage may be considered for such lesions (Campanacci grade II), we chose resection to minimize the chance of recurrence. The tumor was resected en-bloc with the proximal half of the clavicle. No postoperative shoulder disproportion was observed, and full range of motion of the right shoulder was maintained. The patient was satisfied with the surgical outcome (Musculoskeletal Tumor Society score of 96 %). He returned to his original job as a land and house investigator without any signs of recurrence for 1 year after surgery. Although GCT of the bone rarely occurs in the clavicle, the typical X-ray findings demonstrated in the present case are helpful for a correct diagnosis. Although en-bloc resection without reconstruction is appropriate for GCTs in expendable bones, there has been much discussion about shoulder function after total claviculectomy. Considering the importance of the function of the clavicle, which is to support the

47 CFR 90.1103 - Designated entities.

Code of Federal Regulations, 2010 CFR

2010-10-01

... 47 Telecommunication 5 2010-10-01 2010-10-01 false Designated entities. 90.1103 Section 90.1103... Designated entities. (a) This section addresses certain issues concerning designated entities in the Location... provisions. (1) A small business is an entity that, together with its affiliates and controlling interests...

47 CFR 90.1103 - Designated entities.

Code of Federal Regulations, 2011 CFR

2011-10-01

... 47 Telecommunication 5 2011-10-01 2011-10-01 false Designated entities. 90.1103 Section 90.1103... Designated entities. (a) This section addresses certain issues concerning designated entities in the Location... provisions. (1) A small business is an entity that, together with its affiliates and controlling interests...

31 CFR 596.308 - Person; entity.

Code of Federal Regulations, 2010 CFR

2010-07-01

... 31 Money and Finance: Treasury 3 2010-07-01 2010-07-01 false Person; entity. 596.308 Section 596... General Definitions § 596.308 Person; entity. (a) The term person means an individual or entity. (b) The term entity means a partnership, association, corporation, or other organization. ...

31 CFR 596.308 - Person; entity.

Code of Federal Regulations, 2011 CFR

2011-07-01

... 31 Money and Finance:Treasury 3 2011-07-01 2011-07-01 false Person; entity. 596.308 Section 596... General Definitions § 596.308 Person; entity. (a) The term person means an individual or entity. (b) The term entity means a partnership, association, corporation, or other organization. ...

Primary and secondary leiomyosarcoma of the oral and perioral region--clinicopathological and immunohistochemical analysis of a rare entity with a review of the literature.

PubMed

Schütz, Anja; Smeets, Ralf; Driemel, Oliver; Hakim, Samer George; Kosmehl, Hartwig; Hanken, Henning; Kolk, Andreas

2013-06-01

Leiomyosarcoma (LMS) rarely occurs in the head and neck region. These tumors present with a wide range of clinical features, so the diagnosis is predicated on conventional microscopic findings coupled with immunohistochemical analysis. Clinical and histologic data of 7 patients with LMS of the head and neck were recorded retrospectively. In addition to routine immunohistochemistry, staining for cell cycle regulator proteins p16 and p21 was performed. Five LMSs (4 intraoral, 1 dermal cheek) occurred primarily in the oral and perioral region. Two LMSs (parietal and sinonasal) were diagnosed as metastases originating from the uterus and pelvis. Treatment of the primary LMSs consisted of radical tumor resection with clear margins. Distant metastases from LMSs were irradiated or excised as palliative treatment. Three of 5 patients (60%) with primarily excised LMS developed recurrence after an average of 7 months, with lung metastases occurring after 17 months. In 1 patient, cervical lymph node metastases were detected after 10 months. Of all patients, 5 died after an average survival period of 2.4 years. The mean survival period of the 5 patients with primary LMS of the head and neck was 3.3 years. All tumors were positive for vimentin and α-smooth muscle actin, with 57% of tumors showing positive nuclear expression of p16 and 71% of p21. Lack of p16 nuclear expression was associated with a shorter mean survival time (1.3 vs 4.3 yr for p16 positivity). Lung and cervical lymph node metastases often occur in LMS of the head and neck. Presurgical staging, including gynecologic examination, whole-body computed tomography, and sometimes positron-emission or computed tomography, to rule out LMS metastasis is mandatory. Surgical resection of the tumor should be given top priority. Lack of p16 reactivity may have a prognostic value for LMS because it was related to a trend toward poorer survival. Copyright © 2013 American Association of Oral and Maxillofacial Surgeons

31 CFR 544.303 - Entity.

Code of Federal Regulations, 2010 CFR

2010-07-01

... 31 Money and Finance: Treasury 3 2010-07-01 2010-07-01 false Entity. 544.303 Section 544.303 Money and Finance: Treasury Regulations Relating to Money and Finance (Continued) OFFICE OF FOREIGN ASSETS... General Definitions § 544.303 Entity. The term entity means a partnership, association, trust, joint...

31 CFR 594.303 - Entity.

Code of Federal Regulations, 2010 CFR

2010-07-01

... 31 Money and Finance: Treasury 3 2010-07-01 2010-07-01 false Entity. 594.303 Section 594.303 Money and Finance: Treasury Regulations Relating to Money and Finance (Continued) OFFICE OF FOREIGN ASSETS... Entity. The term entity means a partnership, association, corporation, or other organization, group, or...

31 CFR 594.303 - Entity.

Code of Federal Regulations, 2011 CFR

2011-07-01

... 31 Money and Finance:Treasury 3 2011-07-01 2011-07-01 false Entity. 594.303 Section 594.303 Money and Finance: Treasury Regulations Relating to Money and Finance (Continued) OFFICE OF FOREIGN ASSETS... Entity. The term entity means a partnership, association, corporation, or other organization, group, or...

31 CFR 598.303 - Entity.

Code of Federal Regulations, 2010 CFR

2010-07-01

... 31 Money and Finance: Treasury 3 2010-07-01 2010-07-01 false Entity. 598.303 Section 598.303 Money and Finance: Treasury Regulations Relating to Money and Finance (Continued) OFFICE OF FOREIGN ASSETS... § 598.303 Entity. The term entity means a partnership, joint venture, association, corporation...

31 CFR 542.303 - Entity.

Code of Federal Regulations, 2010 CFR

2010-07-01

... 31 Money and Finance: Treasury 3 2010-07-01 2010-07-01 false Entity. 542.303 Section 542.303 Money... CONTROL, DEPARTMENT OF THE TREASURY SYRIAN SANCTIONS REGULATIONS General Definitions § 542.303 Entity. The term entity means a partnership, association, trust, joint venture, corporation, group, subgroup, or...

31 CFR 592.303 - Entity.

Code of Federal Regulations, 2010 CFR

2010-07-01

... 31 Money and Finance: Treasury 3 2010-07-01 2010-07-01 false Entity. 592.303 Section 592.303 Money and Finance: Treasury Regulations Relating to Money and Finance (Continued) OFFICE OF FOREIGN ASSETS... Entity. The term entity means a partnership, association, trust, joint venture, corporation, or other...

31 CFR 588.303 - Entity.

Code of Federal Regulations, 2011 CFR

2011-07-01

... 31 Money and Finance:Treasury 3 2011-07-01 2011-07-01 false Entity. 588.303 Section 588.303 Money and Finance: Treasury Regulations Relating to Money and Finance (Continued) OFFICE OF FOREIGN ASSETS....303 Entity. The term entity means a partnership, association, trust, joint venture, corporation, group...

31 CFR 561.316 - Entity.

Code of Federal Regulations, 2011 CFR

2011-07-01

... 31 Money and Finance:Treasury 3 2011-07-01 2011-07-01 false Entity. 561.316 Section 561.316 Money and Finance: Treasury Regulations Relating to Money and Finance (Continued) OFFICE OF FOREIGN ASSETS... Entity. The term entity means a partnership, association, trust, joint venture, corporation, or other...

31 CFR 585.310 - Entity.

Code of Federal Regulations, 2010 CFR

2010-07-01

... 31 Money and Finance: Treasury 3 2010-07-01 2010-07-01 false Entity. 585.310 Section 585.310 Money and Finance: Treasury Regulations Relating to Money and Finance (Continued) OFFICE OF FOREIGN ASSETS... Definitions § 585.310 Entity. The term entity includes a corporation, partnership, association, or other...

31 CFR 588.303 - Entity.

Code of Federal Regulations, 2010 CFR

2010-07-01

... 31 Money and Finance: Treasury 3 2010-07-01 2010-07-01 false Entity. 588.303 Section 588.303 Money and Finance: Treasury Regulations Relating to Money and Finance (Continued) OFFICE OF FOREIGN ASSETS....303 Entity. The term entity means a partnership, association, trust, joint venture, corporation, group...

31 CFR 587.303 - Entity.

Code of Federal Regulations, 2010 CFR

2010-07-01

... 31 Money and Finance: Treasury 3 2010-07-01 2010-07-01 false Entity. 587.303 Section 587.303 Money and Finance: Treasury Regulations Relating to Money and Finance (Continued) OFFICE OF FOREIGN ASSETS... SANCTIONS REGULATIONS General Definitions § 587.303 Entity. The term entity means a partnership, association...

31 CFR 542.303 - Entity.

Code of Federal Regulations, 2011 CFR

2011-07-01

... 31 Money and Finance:Treasury 3 2011-07-01 2011-07-01 false Entity. 542.303 Section 542.303 Money... CONTROL, DEPARTMENT OF THE TREASURY SYRIAN SANCTIONS REGULATIONS General Definitions § 542.303 Entity. The term entity means a partnership, association, trust, joint venture, corporation, group, subgroup, or...

31 CFR 562.303 - Entity.

Code of Federal Regulations, 2011 CFR

2011-07-01

... 31 Money and Finance:Treasury 3 2011-07-01 2011-07-01 false Entity. 562.303 Section 562.303 Money and Finance: Treasury Regulations Relating to Money and Finance (Continued) OFFICE OF FOREIGN ASSETS... § 562.303 Entity. The term entity means a partnership, association, trust, joint venture, corporation...

31 CFR 593.303 - Entity.

Code of Federal Regulations, 2010 CFR

2010-07-01

... 31 Money and Finance: Treasury 3 2010-07-01 2010-07-01 false Entity. 593.303 Section 593.303 Money and Finance: Treasury Regulations Relating to Money and Finance (Continued) OFFICE OF FOREIGN ASSETS... Definitions § 593.303 Entity. The term entity means a partnership, association, trust, joint venture...

31 CFR 592.303 - Entity.

Code of Federal Regulations, 2011 CFR

2011-07-01

... 31 Money and Finance:Treasury 3 2011-07-01 2011-07-01 false Entity. 592.303 Section 592.303 Money and Finance: Treasury Regulations Relating to Money and Finance (Continued) OFFICE OF FOREIGN ASSETS... Entity. The term entity means a partnership, association, trust, joint venture, corporation, or other...

31 CFR 586.303 - Entity.

Code of Federal Regulations, 2010 CFR

2010-07-01

... 31 Money and Finance: Treasury 3 2010-07-01 2010-07-01 false Entity. 586.303 Section 586.303 Money and Finance: Treasury Regulations Relating to Money and Finance (Continued) OFFICE OF FOREIGN ASSETS... REGULATIONS General Definitions § 586.303 Entity. The term entity means a partnership, association, trust...

31 CFR 546.304 - Entity.

Code of Federal Regulations, 2011 CFR

2011-07-01

... 31 Money and Finance:Treasury 3 2011-07-01 2011-07-01 false Entity. 546.304 Section 546.304 Money... CONTROL, DEPARTMENT OF THE TREASURY DARFUR SANCTIONS REGULATIONS General Definitions § 546.304 Entity. The term entity means a partnership, association, trust, joint venture, corporation, group, subgroup, or...

31 CFR 597.306 - Entity.

Code of Federal Regulations, 2011 CFR

2011-07-01

... 31 Money and Finance:Treasury 3 2011-07-01 2011-07-01 false Entity. 597.306 Section 597.306 Money and Finance: Treasury Regulations Relating to Money and Finance (Continued) OFFICE OF FOREIGN ASSETS... Definitions § 597.306 Entity. The term entity includes a partnership, association, corporation, or other...

31 CFR 539.303 - Entity.

Code of Federal Regulations, 2011 CFR

2011-07-01

... 31 Money and Finance:Treasury 3 2011-07-01 2011-07-01 false Entity. 539.303 Section 539.303 Money and Finance: Treasury Regulations Relating to Money and Finance (Continued) OFFICE OF FOREIGN ASSETS... Definitions § 539.303 Entity. The term entity means a partnership, association, trust, joint venture...

31 CFR 544.303 - Entity.

Code of Federal Regulations, 2011 CFR

2011-07-01

... 31 Money and Finance:Treasury 3 2011-07-01 2011-07-01 false Entity. 544.303 Section 544.303 Money and Finance: Treasury Regulations Relating to Money and Finance (Continued) OFFICE OF FOREIGN ASSETS... General Definitions § 544.303 Entity. The term entity means a partnership, association, trust, joint...

31 CFR 570.303 - Entity.

Code of Federal Regulations, 2011 CFR

2011-07-01

... 31 Money and Finance:Treasury 3 2011-07-01 2011-07-01 false Entity. 570.303 Section 570.303 Money... CONTROL, DEPARTMENT OF THE TREASURY LIBYAN SANCTIONS REGULATIONS General Definitions § 570.303 Entity. The term entity means a partnership, association, trust, joint venture, corporation, group, subgroup, or...

31 CFR 540.303 - Entity.

Code of Federal Regulations, 2011 CFR

2011-07-01

... 31 Money and Finance:Treasury 3 2011-07-01 2011-07-01 false Entity. 540.303 Section 540.303 Money and Finance: Treasury Regulations Relating to Money and Finance (Continued) OFFICE OF FOREIGN ASSETS... General Definitions § 540.303 Entity. The term entity means a partnership, association, trust, joint...

31 CFR 597.306 - Entity.

Code of Federal Regulations, 2010 CFR

2010-07-01

... 31 Money and Finance: Treasury 3 2010-07-01 2010-07-01 false Entity. 597.306 Section 597.306 Money and Finance: Treasury Regulations Relating to Money and Finance (Continued) OFFICE OF FOREIGN ASSETS... Definitions § 597.306 Entity. The term entity includes a partnership, association, corporation, or other...

31 CFR 540.303 - Entity.

Code of Federal Regulations, 2010 CFR

2010-07-01

... 31 Money and Finance: Treasury 3 2010-07-01 2010-07-01 false Entity. 540.303 Section 540.303 Money and Finance: Treasury Regulations Relating to Money and Finance (Continued) OFFICE OF FOREIGN ASSETS... General Definitions § 540.303 Entity. The term entity means a partnership, association, trust, joint...

31 CFR 539.303 - Entity.

Code of Federal Regulations, 2010 CFR

2010-07-01

... 31 Money and Finance: Treasury 3 2010-07-01 2010-07-01 false Entity. 539.303 Section 539.303 Money and Finance: Treasury Regulations Relating to Money and Finance (Continued) OFFICE OF FOREIGN ASSETS... Definitions § 539.303 Entity. The term entity means a partnership, association, trust, joint venture...

31 CFR 593.303 - Entity.

Code of Federal Regulations, 2011 CFR

2011-07-01

... 31 Money and Finance:Treasury 3 2011-07-01 2011-07-01 false Entity. 593.303 Section 593.303 Money and Finance: Treasury Regulations Relating to Money and Finance (Continued) OFFICE OF FOREIGN ASSETS... Definitions § 593.303 Entity. The term entity means a partnership, association, trust, joint venture...

31 CFR 576.304 - Entity.

Code of Federal Regulations, 2011 CFR

2011-07-01

... 31 Money and Finance:Treasury 3 2011-07-01 2011-07-01 false Entity. 576.304 Section 576.304 Money and Finance: Treasury Regulations Relating to Money and Finance (Continued) OFFICE OF FOREIGN ASSETS... Definitions § 576.304 Entity. The term entity means a partnership, association, trust, joint venture...

31 CFR 598.303 - Entity.

Code of Federal Regulations, 2011 CFR

2011-07-01

... 31 Money and Finance:Treasury 3 2011-07-01 2011-07-01 false Entity. 598.303 Section 598.303 Money and Finance: Treasury Regulations Relating to Money and Finance (Continued) OFFICE OF FOREIGN ASSETS... § 598.303 Entity. The term entity means a partnership, joint venture, association, corporation...

43 CFR 426.10 - Public entities.

Code of Federal Regulations, 2011 CFR

2011-10-01

... 43 Public Lands: Interior 1 2011-10-01 2011-10-01 false Public entities. 426.10 Section 426.10... INTERIOR ACREAGE LIMITATION RULES AND REGULATIONS § 426.10 Public entities. (a) Application of the acreage limitation provisions to public entities. Reclamation does not subject public entities to the acreage...

43 CFR 426.10 - Public entities.

Code of Federal Regulations, 2010 CFR

2010-10-01

... 43 Public Lands: Interior 1 2010-10-01 2010-10-01 false Public entities. 426.10 Section 426.10... INTERIOR ACREAGE LIMITATION RULES AND REGULATIONS § 426.10 Public entities. (a) Application of the acreage limitation provisions to public entities. Reclamation does not subject public entities to the acreage...

Adenoid cystic carcinoma of child: a rare case.

PubMed

Mathai, Meera; Sherubin, J Eugenia; Agnihotri, Pg; Sangeetha, Gs

2014-01-01

Adenoid cystic carcinoma (ACC) is the second most common malignant tumor affecting both major and minor salivary glands. Clinically, it is a slowly growing tumor with high propensity for local invasion, recurrence and distant metastasis. It is predominantly seen in the ffith and sixth decades of life. Here, we report a rare case of ACC affecting the right maxilla of a 12-year-old girl. How to cite this article: Mathai M, Sherubin JE, Agnihotri PG, Sangeetha GS. Adenoid Cystic Carcinoma of Child: A Rare Case. Int J Clin Pediatr Dent 2014;7(3):206-208.

Parry-Romberg syndrome (progressive hemifacial atrophy) with spasmodic dysphonia--a rare association.

PubMed

Mugundhan, K; Selvakumar, C J; Gunasekaran, K; Thiruvarutchelvan, K; Sivakumar, S; Anguraj, M; Arun, S

2014-04-01

Parry-Romberg syndrome is a rare clinical entity characterised by progressive hemifacial atrophy with appearance of 'saber'. Various neurological and otorhinolaryngological disorders are associated with this syndrome. The association of Parry -Romberg syndrome with Spasmodic dysphonia has rarely been reported. A 37 year old female presented with progressive atrophy of tissues of left side of face for 10 years and change in voice for 1 year. On examination, wasting and atrophy of tissues including tongue was noted on left side of the face. ENT examination revealed adductor spasmodic dysphonia. We report the rare association of Parry -Romberg syndrome with spasmodic dysphonia.

47 CFR 101.1429 - Designated entities.

Code of Federal Regulations, 2011 CFR

2011-10-01

... 47 Telecommunication 5 2011-10-01 2011-10-01 false Designated entities. 101.1429 Section 101.1429... Designated entities. (a) Eligibility for small business provisions. (1) A very small business is an entity... exceeding $3 million for the preceding three years. (2) A small business is an entity that, together with...

Inflammatory myoglandular polyp--a rare but distinct type of colorectal polyps.

PubMed

Becheanu, Gabriel; Stamm, Bernhard

2003-01-01

The aim of this paper was to report another example of a rare type of colorectal polyps, the inflammatory myoglandular polyp, and to reaffirm this type of polyp as a distinct entity. This solitary pedunculated polyp was detected after a single episode of rectal bleeding. It was situated in the sigmoid colon, measured 2.5 cm in greatest diameter, and was composed almost exclusively of smooth muscles and hyperplastic glands. The patient had neither chronic colitis nor diverticula. Clinical presentation, localization, and histology give this type of polyp a unique appearance and justify its designation as a separate entity.

Adult Onset Asthma and Periocular Xanthogranuloma (AAPOX), a Rare Entity With a Strong Link to IgG4-Related Disease

PubMed Central

London, Jonathan; Martin, Antoine; Soussan, Michael; Badelon, Isabelle; Gille, Thomas; Uzunhan, Yurdagul; Giroux-Leprieur, Bénédicte; Warzocha, Ursula; Régent, Alexis; Galatoire, Olivier; Dhote, Robin; Abad, Sébastien

2015-01-01

Abstract Adult onset asthma and periocular xanthogranuloma (AAPOX) is a rare non-Langerhans histiocytosis characterized histopathologically by a periocular infiltration of foamy histiocytes and Touton giant cells. Benign hyperplasia with plasma cell infiltration is classically described in eyelids or lymph nodes of AAPOX patients. It is also a characteristic feature of IgG4-related disease (IgG4-RD), a new entity defined by an IgG4-bearing plasma cell infiltration of organs. To determine if AAPOX syndrome shares clinical, biological, and histopathological characteristics with IgG4-RD, we used the comprehensive clinical diagnostic criteria for IgG4-RD in a retrospective case series of three consecutive patients with histologically-proven AAPOX. Patients who were diagnosed with AAPOX at a French academic referral center for orbital inflammation between November 1996 and March 2013 were enrolled. Biopsies from ocular adnexa or other organs were systematically reexamined. For each patient, clinical and serological data, radiologic findings, and treatment were retrospectively analyzed. Two AAPOX patients fulfilled all of the diagnostic criteria for a definite IgG4-RD. One patient who lacked the serological criteria fulfilled the criteria of a probable IgG4-RD. These 3 cases of AAPOX patients fulfilled the IgG4-RD comprehensive clinical diagnostic criteria. To our knowledge, this is the first observational case report study to clearly show a strong relationship between IgG4-RD and AAPOX syndrome. PMID:26512617

The Abernethy malformation-myriad imaging manifestations of a single entity.

PubMed

Ghuman, Samarjit S; Gupta, Saumya; Buxi, T B S; Rawat, Kishan S; Yadav, Anurag; Mehta, Naimish; Sud, Seema

2016-01-01

Abernethy malformation, also known as congenital extrahepatic portosystemic shunts (CEPS) is a rare clinical entity and manifests with different clinical symptoms. CEPS are abnormalities of vascular development where there is shunting of portal blood into the systemic venous system. Multidetector computed tomography (MDCT) is a fast and effective modality for evaluation of CEPS. CT displays all the information desired by the surgeon as well as the clinician including the anatomy of the splenic and superior mesenteric veins, size and site of the shunt, presence or absence of the portal vein radicles, and helps to plan the therapy and even the follow-up of these patients. Contrast-enhanced magnetic resonance imaging (MRI) has also emerged as a promising tool for the evaluation of liver lesions associated with the malformation. The Radiologist should be aware of the various imaging appearances of this entity including its complications. In this article, we describe the imaging appearances of CEPS, their complications, and their imaging appearances on CT and MRI. We have also described various associated anomalies.

The Abernethy malformation—myriad imaging manifestations of a single entity

PubMed Central

Ghuman, Samarjit S; Gupta, Saumya; Buxi, T B S; Rawat, Kishan S; Yadav, Anurag; Mehta, Naimish; Sud, Seema

2016-01-01

Abernethy malformation, also known as congenital extrahepatic portosystemic shunts (CEPS) is a rare clinical entity and manifests with different clinical symptoms. CEPS are abnormalities of vascular development where there is shunting of portal blood into the systemic venous system. Multidetector computed tomography (MDCT) is a fast and effective modality for evaluation of CEPS. CT displays all the information desired by the surgeon as well as the clinician including the anatomy of the splenic and superior mesenteric veins, size and site of the shunt, presence or absence of the portal vein radicles, and helps to plan the therapy and even the follow-up of these patients. Contrast-enhanced magnetic resonance imaging (MRI) has also emerged as a promising tool for the evaluation of liver lesions associated with the malformation. The Radiologist should be aware of the various imaging appearances of this entity including its complications. In this article, we describe the imaging appearances of CEPS, their complications, and their imaging appearances on CT and MRI. We have also described various associated anomalies. PMID:27857464

Genomic analysis and selected molecular pathways in rare cancers

NASA Astrophysics Data System (ADS)

Liu, Stephen V.; Lenkiewicz, Elizabeth; Evers, Lisa; Holley, Tara; Kiefer, Jeffrey; Ruiz, Christian; Glatz, Katharina; Bubendorf, Lukas; Demeure, Michael J.; Eng, Cathy; Ramanathan, Ramesh K.; Von Hoff, Daniel D.; Barrett, Michael T.

2012-12-01

It is widely accepted that many cancers arise as a result of an acquired genomic instability and the subsequent evolution of tumor cells with variable patterns of selected and background aberrations. The presence and behaviors of distinct neoplastic cell populations within a patient's tumor may underlie multiple clinical phenotypes in cancers. A goal of many current cancer genome studies is the identification of recurring selected driver events that can be advanced for the development of personalized therapies. Unfortunately, in the majority of rare tumors, this type of analysis can be particularly challenging. Large series of specimens for analysis are simply not available, allowing recurring patterns to remain hidden. In this paper, we highlight the use of DNA content-based flow sorting to identify and isolate DNA-diploid and DNA-aneuploid populations from tumor biopsies as a strategy to comprehensively study the genomic composition and behaviors of individual cancers in a series of rare solid tumors: intrahepatic cholangiocarcinoma, anal carcinoma, adrenal leiomyosarcoma, and pancreatic neuroendocrine tumors. We propose that the identification of highly selected genomic events in distinct tumor populations within each tumor can identify candidate driver events that can facilitate the development of novel, personalized treatment strategies for patients with cancer.

Genomic analysis and selected molecular pathways in rare cancers.

PubMed

Liu, Stephen V; Lenkiewicz, Elizabeth; Evers, Lisa; Holley, Tara; Kiefer, Jeffrey; Ruiz, Christian; Glatz, Katharina; Bubendorf, Lukas; Demeure, Michael J; Eng, Cathy; Ramanathan, Ramesh K; Von Hoff, Daniel D; Barrett, Michael T

2012-12-01

It is widely accepted that many cancers arise as a result of an acquired genomic instability and the subsequent evolution of tumor cells with variable patterns of selected and background aberrations. The presence and behaviors of distinct neoplastic cell populations within a patient's tumor may underlie multiple clinical phenotypes in cancers. A goal of many current cancer genome studies is the identification of recurring selected driver events that can be advanced for the development of personalized therapies. Unfortunately, in the majority of rare tumors, this type of analysis can be particularly challenging. Large series of specimens for analysis are simply not available, allowing recurring patterns to remain hidden. In this paper, we highlight the use of DNA content-based flow sorting to identify and isolate DNA-diploid and DNA-aneuploid populations from tumor biopsies as a strategy to comprehensively study the genomic composition and behaviors of individual cancers in a series of rare solid tumors: intrahepatic cholangiocarcinoma, anal carcinoma, adrenal leiomyosarcoma, and pancreatic neuroendocrine tumors. We propose that the identification of highly selected genomic events in distinct tumor populations within each tumor can identify candidate driver events that can facilitate the development of novel, personalized treatment strategies for patients with cancer.

31 CFR 560.305 - Person; entity.

Code of Federal Regulations, 2010 CFR

2010-07-01

... 31 Money and Finance: Treasury 3 2010-07-01 2010-07-01 false Person; entity. 560.305 Section 560.305 Money and Finance: Treasury Regulations Relating to Money and Finance (Continued) OFFICE OF... § 560.305 Person; entity. (a) The term person means an individual or entity. (b) The term entity means a...

18 CFR 46.5 - Covered entities.

Code of Federal Regulations, 2011 CFR

2011-04-01

... 18 Conservation of Power and Water Resources 1 2011-04-01 2011-04-01 false Covered entities. 46.5... FOR PERSONS HOLDING INTERLOCKING POSITIONS § 46.5 Covered entities. Entities to which the general rule..., or a savings and loan association; (b) Any entity which is authorized by law to underwrite or...

46 CFR 67.41 - Governmental entity.

Code of Federal Regulations, 2010 CFR

2010-10-01

... 46 Shipping 2 2010-10-01 2010-10-01 false Governmental entity. 67.41 Section 67.41 Shipping COAST... DOCUMENTATION OF VESSELS Citizenship Requirements for Vessel Documentation § 67.41 Governmental entity. A governmental entity is a citizen for the purpose of obtaining a vessel document if it is an entity of the...

46 CFR 67.41 - Governmental entity.

Code of Federal Regulations, 2011 CFR

2011-10-01

... 46 Shipping 2 2011-10-01 2011-10-01 false Governmental entity. 67.41 Section 67.41 Shipping COAST... DOCUMENTATION OF VESSELS Citizenship Requirements for Vessel Documentation § 67.41 Governmental entity. A governmental entity is a citizen for the purpose of obtaining a vessel document if it is an entity of the...

18 CFR 46.5 - Covered entities.

Code of Federal Regulations, 2010 CFR

2010-04-01

... 18 Conservation of Power and Water Resources 1 2010-04-01 2010-04-01 false Covered entities. 46.5... FOR PERSONS HOLDING INTERLOCKING POSITIONS § 46.5 Covered entities. Entities to which the general rule..., or a savings and loan association; (b) Any entity which is authorized by law to underwrite or...

42 CFR 6.3 - Eligible entities.

Code of Federal Regulations, 2010 CFR

2010-10-01

... 42 Public Health 1 2010-10-01 2010-10-01 false Eligible entities. 6.3 Section 6.3 Public Health... COVERAGE OF CERTAIN GRANTEES AND INDIVIDUALS § 6.3 Eligible entities. (a) Grantees. Entities eligible for coverage under this part are public and nonprofit private entities receiving Federal funds under any of the...

31 CFR 560.305 - Person; entity.

Code of Federal Regulations, 2011 CFR

2011-07-01

... 31 Money and Finance:Treasury 3 2011-07-01 2011-07-01 false Person; entity. 560.305 Section 560.305 Money and Finance: Treasury Regulations Relating to Money and Finance (Continued) OFFICE OF... § 560.305 Person; entity. (a) The term person means an individual or entity. (b) The term entity means a...

42 CFR 6.3 - Eligible entities.

Code of Federal Regulations, 2011 CFR

2011-10-01

... 42 Public Health 1 2011-10-01 2011-10-01 false Eligible entities. 6.3 Section 6.3 Public Health... COVERAGE OF CERTAIN GRANTEES AND INDIVIDUALS § 6.3 Eligible entities. (a) Grantees. Entities eligible for coverage under this part are public and nonprofit private entities receiving Federal funds under any of the...

Simultaneous liver mucinous cystic and intraductal papillary mucinous neoplasms of the bile duct: a case report.

PubMed

Budzynska, Agnieszka; Hartleb, Marek; Nowakowska-Dulawa, Ewa; Krol, Robert; Remiszewski, Piotr; Mazurkiewicz, Michal

2014-04-14

Cystic hepatic neoplasms are rare tumors, and are classified into two separate entities: mucinous cystic neoplasms (MCNs) and intraductal papillary mucinous neoplasms of the bile duct (IPMN-B). We report the case of a 56-year-old woman who presented with abdominal pain and jaundice due to the presence of a large hepatic multilocular cystic tumor associated with an intraductal tumor. Partial hepatectomy with resection of extrahepatic bile ducts demonstrated an intrahepatic MCN and an intraductal IPMN-B. This is the first report of the simultaneous occurrence of these two histologically distinct entities in the liver.

2 CFR 170.310 - Entity.

Code of Federal Regulations, 2013 CFR

2013-01-01

... 2 Grants and Agreements 1 2013-01-01 2013-01-01 false Entity. 170.310 Section 170.310 Grants and Agreements Office of Management and Budget Guidance for Grants and Agreements OFFICE OF MANAGEMENT AND BUDGET... COMPENSATION INFORMATION Definitions § 170.310 Entity. Entity has the meaning given in 2 CFR part 25. ...

2 CFR 170.310 - Entity.

Code of Federal Regulations, 2014 CFR

2014-01-01

... 2 Grants and Agreements 1 2014-01-01 2014-01-01 false Entity. 170.310 Section 170.310 Grants and Agreements Office of Management and Budget Guidance for Grants and Agreements OFFICE OF MANAGEMENT AND BUDGET... INFORMATION Definitions § 170.310 Entity. Entity has the meaning given in 2 CFR part 25. ...

2 CFR 170.310 - Entity.

Code of Federal Regulations, 2012 CFR

2012-01-01

... 2 Grants and Agreements 1 2012-01-01 2012-01-01 false Entity. 170.310 Section 170.310 Grants and Agreements Office of Management and Budget Guidance for Grants and Agreements OFFICE OF MANAGEMENT AND BUDGET... COMPENSATION INFORMATION Definitions § 170.310 Entity. Entity has the meaning given in 2 CFR part 25. ...

2 CFR 170.310 - Entity.

Code of Federal Regulations, 2011 CFR

2011-01-01

... 2 Grants and Agreements 1 2011-01-01 2011-01-01 false Entity. 170.310 Section 170.310 Grants and Agreements Office of Management and Budget Guidance for Grants and Agreements OFFICE OF MANAGEMENT AND BUDGET... INFORMATION Definitions § 170.310 Entity. Entity has the meaning given in 2 CFR part 25. ...

Pancreatic non-functioning neuroendocrine tumor: a new entity genetically related to Lynch syndrome

PubMed Central

Serracant Barrera, Anna; Serra Pla, Sheila; Blázquez Maña, Carmen María; Salas, Rubén Carrera; García Monforte, Neus; Bejarano González, Natalia; Romaguera Monzonis, Andreu; Andreu Navarro, Francisco Javier; Bella Cueto, Maria Rosa

2017-01-01

Some pancreatic neuroendocrine tumors (P-NETs) are associated with hereditary syndromes. An association between Lynch syndrome (LS) and P-NETs has been suggested, however it has not been confirmed to date. We describe the first case associating LS and P-NETs. Here we report a 65-year-old woman who in the past 20 years presented two colorectal carcinomas (CRC) endometrial carcinoma (EC), infiltrating ductal breast carcinoma, small intestine adenocarcinoma, two non-functioning P-NETs and sebomatricoma. With the exception of one P-NET, all these conditions were associated with LS, as confirmed by immunohistochemistry (IHC) and polymerase chain reaction (PCR). LS is caused by a mutation of a mismatch repair (MMR) gene which leads to a loss of expression of its protein. CRC is the most common tumor, followed by EC. Pancreatic tumors have also been associated with LS. Diagnosis of LS is based on clinical criteria (Amsterdam II and Bethesda) and genetic study (MMR gene mutation). The association between LS and our patient’s tumors was confirmed by IHC (loss of expression of proteins MLH1 and its dimer PMS2) and the detection of microsatellite instability (MSI) using PCR. PMID:29184699

Surgical treatment of lung metastases in patients with embryonal pediatric solid tumors: an update.

PubMed

Fuchs, Joerg; Seitz, Guido; Handgretinger, Rupert; Schäfer, Juergen; Warmann, Steven W

2012-02-01

Distant metastases regularly occur in children with solid tumors. The most affected organ is the lung. Nearly in all extracranial pediatric solid tumors, the presence of lung metastases is associated with an adverse prognosis for the children. Therefore, the correct treatment of lung metastases is essential and influences the outcome. Despite different national and international trials for pediatric tumor entities, specific surgical aspects or guidelines for lung metastases are usually not addressed thoroughly in these protocols. The aim of this article is to present the diagnostic challenges and principles of surgical treatment by focusing on the influence of surgery on the outcome of children. Special points of interest are discussed that emphasize sarcomas, nephroblastomas, hepatoblastomas, and other tumors. Surgery of lung metastases is safe, has a positive impact on the patients' prognosis, and should be aggressive depending on the tumor entity. An interdisciplinary approach, including pediatric oncology and radiology, is mandatory in any case. Copyright © 2012 Elsevier Inc. All rights reserved.

31 CFR 800.212 - Foreign entity.

Code of Federal Regulations, 2011 CFR

2011-07-01

... 31 Money and Finance:Treasury 3 2011-07-01 2011-07-01 false Foreign entity. 800.212 Section 800... TAKEOVERS BY FOREIGN PERSONS Definitions § 800.212 Foreign entity. (a) The term foreign entity means any... majority of the equity interest in such entity is ultimately owned by U.S. nationals is not a foreign...

Inflammatory myofibroblastic tumor: an entity of CT and MR imaging to differentiate from malignant tumors of the sinonasal cavity.

PubMed

Yan, Zhongyu; Wang, Yongzhe; Zhang, Zhengyu

2014-01-01

Inflammatory myofibroblastic tumor (IMT) is chronic inflammatory lesions of unknown origins. The preoperative diagnosis for tumors in the sinonasal cavity is difficult to distinguish between IMT and aggressive malignancy in most cases. The purpose of this study was to evaluate the imaging features of IMT distinguishing the 2 types of tumors. Computed tomography and magnetic resonance imaging were identified retrospectively with IMT in 14 cases and with aggressive malignancy in 38 cases in the sinonasal cavity proven by pathology. Imaging findings were evaluated, including the configuration, extent, margin, calcification, bone involvement, T1WI and T2WI signal intensity, and degree of enhancement. There was a significant difference between IMT and aggressive malignancy regarding the configuration, extension, calcification, bone change, signal intensity and homogeneous on T2-weighted imaging, and degree of enhancement (P < 0.05). Inflammatory myofibroblastic tumor and aggressive malignancy have some different imaging features that could be helpful in the differentiation between the lesions. Bone erosion with sclerosis, calcification when present, typically homogenous and never hyperintense of T2 appearance, and mild enhancement played an important role in differentiating sinonasal IMT from malignancies.

Congenital juvenile granulosa cell tumor of the testis in newborns.

PubMed

Zugor, Vahudin; Labanaris, Apostolos P; Witt, Jörn; Seidler, Alexander; Weingärtner, Karl; Schott, Günter E

2010-05-01

Granulosa cell tumor of the testis is a rare intermediate stromal cell tumor that can be distinguished in the adult and juvenile type. The juvenile type is the most common reason for scrotal swelling in newborns under the age of six months. Less than fifty cases of this disease entity have been reported in the literature. In the following article, two newborn patients with scrotal swelling and a histological confirmation of juvenile granulosa cell tumor of the testis will be presented. Case 1: A newborn patient presented with massive scrotal swelling. Sonography of the testicle exhibited a multiple septic and cystic enlargement of the testicle without distinction of the testicular parenchyma being possible. The laboratory findings demonstrated normal testosterone levels, beta-HCG and inhibin-B levels as well as an increased alpha-fetoprotein level of 35.350 ng/dl. Due to clinical and sonographic findings, an inguinal exploration and later, due to the impossibility of distinction of the testicular parenchyma, an inguinal orchiectomy of the right testicle was performed. Case 2: The clinical and sonographic examination of a newborn patient demonstrated a suspicious process of the left testicle. Sonography exhibited an enlarged testicle with cystic formations with the distinction of the testicular parenchyma not being possible. The laboratory findings demonstrated normal testosterone levels, beta-HCG and inhibin-B levels as well as an increased alpha-fetoprotein level of 9.038 ng/dl and LDH of 768 U/I. An inguinal orchiectomy of the left testicle was performed. In both cases, a histological diagnosis of juvenile granulosa cell tumor of the testis was made. These two aforementioned cases demonstrate that juvenile granulosa cell tumor of the testis is a benign disease encountered in newborns, which exhibits an excellent prognosis. Inguinal orchiectomy is the therapy of choice. After surgical removal of the involved testicle is performed no further management is required.

2 CFR 25.320 - Entity.

Code of Federal Regulations, 2011 CFR

2011-01-01

... 2 Grants and Agreements 1 2011-01-01 2011-01-01 false Entity. 25.320 Section 25.320 Grants and Agreements Office of Management and Budget Guidance for Grants and Agreements OFFICE OF MANAGEMENT AND BUDGET... CONTRACTOR REGISTRATION Definitions § 25.320 Entity. Entity, as it is used in this part, has the meaning...

A germline mutation of CDKN2A and a novel RPLP1-C19MC fusion detected in a rare melanotic neuroectodermal tumor of infancy: a case report.

PubMed

Barnes, David J; Hookway, Edward; Athanasou, Nick; Kashima, Takeshi; Oppermann, Udo; Hughes, Simon; Swan, Daniel; Lueerssen, Dietrich; Anson, John; Hassan, A Bassim

2016-08-12

Melanotic neuroectodermal tumor of infancy (MNTI) is exceptionally rare and occurs predominantly in the head and neck (92.8 % cases). The patient reported here is only the eighth case of MNTI presenting in an extremity, and the first reported in the fibula. A 2-month-old female presented with a mass arising in the fibula. Exhaustive genomic, transcriptomic, epigenetic and pathological characterization was performed on the excised primary tumor and a derived cell line. Whole-exome analysis of genomic DNA from both the tumor and blood indicated no somatic, non-synonymous coding mutations within the tumor, but a heterozygous, unique germline, loss of function mutation in CDKN2A (p16(INK4A), D74A). SNP-array CGH on DNA samples revealed the tumor to be euploid, with no detectable gene copy number variants. Multiple chromosomal translocations were identified by RNA-Seq, and fusion genes included RPLP1-C19MC, potentially deregulating the C19MC cluster, an imprinted locus containing microRNA genes reactivated by gene fusion in embryonal tumors with multilayered rosettes. Since the presumed cell of origin of MNTI is from the neural crest, we also compared gene expression with a dataset from human neural crest cells and identified 185 genes with significantly different expression. Consistent with the melanotic phenotype of the tumor, elevated expression of tyrosinase was observed. Other highly expressed genes encoded muscle proteins and modulators of the extracellular matrix. A derived MNTI cell line was sensitive to inhibitors of lysine demethylase, but not to compounds targeting other epigenetic regulators. In the absence of somatic copy number variations or mutations, the fully transformed phenotype of the MNTI may have arisen in infancy because of the combined effects of a germline CDKN2A mutation, tumor promoting somatic fusion genes and epigenetic deregulation. Very little is known about the etiology of MNTI and this report advances knowledge of these rare tumors by

Malignant perivascular epithelioid cell tumor of the retroperitoneum.

PubMed

Wu, Ji-Hua; Zhou, Jin-Lian; Cui, Yan; Jing, Qing-Ping; Shang, Le; Zhang, Jian-Zhong

2013-01-01

Perivascular epithelioid cell tumors (PEComas) are a rare type of mesenchymal neoplasms characterized by a proliferation of perivascular cells with an epithelioid phenotype and expression of myo-melanocytic markers. The majority of PEComas seem to be benign and usually their prognosis is good. Malignant cases are extremely rare, exhibiting a malignant course with local recurrences and distant metastases. We herein report a case of a malignant PEComa arising in the retroperitoneum. The patient was a 55-year-old woman experiencing abdominal discomfort for approximately one month. Ultrasound and computer tomography (CT) scans of the abdomen revealed a solid mass arising from the retroperitoneum. Microscopically, the tumor was composed of epithelioid cells mixed with spindled cells. The nucleus had significant atypia, and the mitoses were obvious. The focal intravascular tumor embolus was visible. Immunohistochemically, the epithelioid tumor cells were positive for HMB45 and Melan-A, and the spindled tumor celLs were positive for SMA and desmin. Seven months after a surgical resection, an ultrasound revealed liver metastases. In conclusion, the malignant PEComas of the retroperitoneum is a very rare neoplasm with unique morphological and immunohistochemical characteristics. It should be differentiated from other epithelioid cell tumors of the retroperitoneum.

A Rare Case: Struma Ovarii in a 14-Year-Old Girl.

PubMed

Iltar, Elif; Ureyen, Isin; Toptas, Tayfun; Savas, Melike; Çekiç, Sema; Uysal, Aysel

2018-02-01

Ovarian tumors presented with ovarian mass in childhood and adolescence are uncommon but an important part of gynecological cases. Struma ovarii is one of the rare cystic benign ovarian tumors that is observed predominantly in women who are between the ages of 40 and 60 years old. It is extremely rare in adolescents. Herein, we present a 14-year-old adolescent girl with struma ovarii who presented to the emergency room with abdominal pain.

Rare kidney tumor provides insight on metabolic changes

Cancer.gov

Researchers in The Cancer Genome Atlas (TCGA) Network have uncovered a number of new findings about the biology and development of a rare form of kidney cancer. They found that the disease – chromophobe renal cell carcinoma – stems in part from alteratio

Orthostatic hypotension as an unusual clinical manifestation of pheochromocytoma: a case report.

PubMed

Bortnik, Miriam; Occhetta, Eraldo; Marino, Paolo

2008-08-01

Pheochromocytoma is a rare endocrine tumor which can have a highly variable presentation related to increased catecholamine secretion. We report the case of a 74-year-old man in whom recurrent episodes of syncope due to orthostatic hypotension were the only clinical manifestations of this challenging entity. Diagnosis of pheochromocytoma was achieved by biochemical test samples and computed tomography scans. Surgical excision of the tumor resulted in clinical improvement with normalization of catecholamine concentrations and no more episodes of orthostatic hypotension during a follow-up of 24 months. Although rare, pheochromocytoma may frequently cause disorders of orthostatic tolerance; because of its meaningful implications, screening for this entity should be considered in case of recurrent syncopal episodes due to new-onset orthostatic hypotension.

Pancreatic neuroendocrine tumor with splenic vein tumor thrombus: A case report.

PubMed

Rodriguez, Rodrigo A; Overton, Heidi; Morris, Katherine T

2014-01-01

Pancreatic neuroendocrine tumors (PNET) are rare, often indolent malignancies. PNET are classified as functional or nonfunctional based on the secretion of hormones without a negative feedback loop; the latter account for up to 60% of PNET. Although PNET are associated with a better prognosis compared to pancreatic adenocarcinomas, they are often diagnosed in advanced stages, making them a significant source of morbidity for patients. Here we present a rare case of venous tumor thrombus arising from a nonfunctional PNET. A 44-year-old woman was referred for evaluation and treatment of a possible tail of pancreas PNET discovered during work-up for a 9 year history of intermittent subcostal pain. Previous endoscopic ultrasound with fine needle aspiration revealed a 3.5cm×3cm mass, with cytological diagnosis of neuroendocrine tumor. Patient was scheduled for laparoscopic distal pancreatectomy. During surgery the mass was found to encase the splenic vein leading the surgeon to perform an en bloc distal pancreatectomy and splenectomy. Pathologic analysis revealed a 1.8cm×5cm tumor thrombus lodged in the splenic vein. Nonfunctional PNET usually present in advanced stages and can be associated with venous tumor thrombi. Preoperative imaging may not accurately predict the presence of venous tumor thrombi. En bloc resection of primary tumor, involved organs and thrombus is the recommended treatment option and often results in long term survival. New multi-modality strategies are needed for detection of venous involvement in nonfunctional PNET to better assist with preoperative planning and counseling. Copyright © 2014 The Authors. Published by Elsevier Ltd.. All rights reserved.

Isolated nonpulsatile enophthalmos in neurofibromatosis: An uncommon entity

PubMed Central

Singh, Swati; Mulay, Kaustubh; Mittal, Vikas

2017-01-01

Isolated enophthalmos is a rarely observed entity in neurofibromatosis (NF). A 12-year-old male presented with right lower eyelid fat prolapse and enophthalmos for the past 7 years. There was no history of antecedent trauma/surgery. Computed tomography of orbit revealed an ill-defined intraconal hyperdense lesion located between lateral and inferior rectus along with an enlarged inferior orbital fissure (IOF). Superior orbital fissure was minimally widened without prolapse of any intracranial contents. Excision biopsy along with repair of widened IOF was performed through inferior transconjunctival route. Histopathology was suggestive of plexiform neurofibroma with positivity for S-100 and epithelial membrane antigen. No associated cutaneous lesions were present. Nonpulsatile enophthalmos with eyelid fat prolapse can be a presenting sign of NF. PMID:29044092

Isolated nonpulsatile enophthalmos in neurofibromatosis: An uncommon entity.

PubMed

Singh, Swati; Mulay, Kaustubh; Mittal, Vikas

2017-10-01

Isolated enophthalmos is a rarely observed entity in neurofibromatosis (NF). A 12-year-old male presented with right lower eyelid fat prolapse and enophthalmos for the past 7 years. There was no history of antecedent trauma/surgery. Computed tomography of orbit revealed an ill-defined intraconal hyperdense lesion located between lateral and inferior rectus along with an enlarged inferior orbital fissure (IOF). Superior orbital fissure was minimally widened without prolapse of any intracranial contents. Excision biopsy along with repair of widened IOF was performed through inferior transconjunctival route. Histopathology was suggestive of plexiform neurofibroma with positivity for S-100 and epithelial membrane antigen. No associated cutaneous lesions were present. Nonpulsatile enophthalmos with eyelid fat prolapse can be a presenting sign of NF.

Outcome and Prognostic Factors in Endometrial Stromal Tumors: A Rare Cancer Network Study

DOE Office of Scientific and Technical Information (OSTI.GOV)

Schick, Ulrike, E-mail: Ulrike.schick@icr.ac.uk; Bolukbasi, Yasmin; Thariat, Juliette

2012-04-01

Purpose: To provide further understanding regarding outcome and prognostic factors of endometrial stromal tumors (EST). Methods and Materials: A retrospective analysis was performed on the records of 59 women diagnosed with EST and treated with curative intent between 1983 and 2007 in the framework of the Rare Cancer Network. Results: Endometrial stromal sarcomas (ESS) were found in 44% and undifferentiated ESS (UES) in 49% of the cases. In 7% the grading was unclear. Of the total number of patients, 33 had Stage I, 4 Stage II, 20 Stage III, and 1 presented with Stage IVB disease. Adjuvant chemotherapy was administeredmore » to 12 patients, all with UES. External-beam radiotherapy (RT) was administered postoperatively to 48 women. The median follow-up was 41.4 months. The 5-year overall survival (OS) rate was 96.2% and 64.8% for ESS and UES, respectively, with a corresponding 5-year disease-free survival (DFS) rate of 49.4% and 43.4%, respectively. On multivariate analysis, adjuvant RT was an independent prognostic factor for OS (p = 0.007) and DFS (p = 0.013). Locoregional control, DFS, and OS were significantly associated with age ({<=}60 vs. >60 years), grade (ESS vs. UES), and International Federation of Gynecology and Obstetrics stage (I-II vs. III-IV). Positive lymph node staging had an impact on OS (p < 0.001). Conclusion: The prognosis of ESS differed from that of UES. Endometrial stromal sarcomas had an excellent 5-year OS, whereas the OS in UES was rather low. However, half of ESS patients had a relapse. For this reason, adjuvant treatment such as RT should be considered even in low-grade tumors. Multicenter randomized studies are still warranted to establish clear guidelines.« less

Gynecomastia during imatinib mesylate treatment for gastrointestinal stromal tumor: a rare adverse event

PubMed Central

2011-01-01

Background Imatinib mesylate has been the standard therapeutic treatment for chronic myeloid leukemia, advanced and metastatic gastrointestinal stromal tumor (GIST). It is well tolerated with mild adverse effects. Gynecomastia development during the course of treatment has been rarely reported. Methods Ninety-eight patients with advanced or recurrent GIST were treated with imatinib mesylate. Among the fifty-seven male patients six developed gynecomastia during the treatment. The lesions were confirmed by sonography. Sex hormone levels were determined in six patients with and without the presence of gynecomastia respectively. The patients with gynecomatia were treated with tamoxifene and the sex hormones were assayed before and after tamoxifene treatment. Results In patients with gynecomastia the lump underneath the bilateral nipples was 2.5 to 5 centimeters in diameter. Their serum free testosterone levels ranged between 356.61 and 574.60 ng/dl with a mean ± SD of 408.64 ± 82.06 ng/dl (95% CI 343.03~474.25 ng/dl), which is within the normal range. The level of serum estradiol was 42.89 ± 16.54 pg/ml (95% CI 29.66~56.12 pg/ml). Three patients had higher levels (43.79~71.21 pg/ml) and the others' were within normal range of 27.00~34.91 pg/ml. Six patients without the development of gynecomastia had normal free testosterone. One patient died because of large tumor burden. The sex hormones had no significant changes before and after tamoxifene treatment.(P > 0.05) Conclusions Testosterone levels were not decreased in the six GIST patients with gynecomastia. Three patients had increased serum estradiol level which suggests that imbalance of sex hormones may be the cause of gynecomastia during treatment with imatinib mesylate. PMID:22047550

Salivary duct cyst on lower lip: A rare entity and literature review

PubMed Central

Tandon, Ankita; Sircar, Keya; Chowdhry, Aman; Bablani, Deepika

2014-01-01

Mucocele forms because of salivary gland mucous extravasation or retention and is usually related to trauma in the area of the lower lips. Salivary duct cyst, however, is a type of mucous retention cyst which is almost never located on the lower lip. The aim of this paper is to report this extremely rare salivary duct cyst present on the lower lip and to critically review the literature to build important concepts that would help clinicians in the diagnosis and treatment of this pathology. PMID:25364168

Salivary duct cyst on lower lip: A rare entity and literature review.

PubMed

Tandon, Ankita; Sircar, Keya; Chowdhry, Aman; Bablani, Deepika

2014-09-01

Mucocele forms because of salivary gland mucous extravasation or retention and is usually related to trauma in the area of the lower lips. Salivary duct cyst, however, is a type of mucous retention cyst which is almost never located on the lower lip. The aim of this paper is to report this extremely rare salivary duct cyst present on the lower lip and to critically review the literature to build important concepts that would help clinicians in the diagnosis and treatment of this pathology.

Expression of Transcription Factors and Nuclear Receptors in Mixed Germ Cell-Sex Cord Stromal Tumor and Related Tumors of the Gonads.

PubMed

Roth, Lawrence M; Cheng, Liang

2015-11-01

In this study, we compare the expression of OCT4, SALL4, and TSPYL1 in mixed germ cell-sex cord stromal tumor (MGC-SCST) of either gonad to that of normal adult testis, classic and spermatocytic seminoma, intratubular germ cell neoplasia, unclassified, gonadoblastoma, and dysgerminoma to determine the entity or entities that most closely resemble MGC-SCST by immunohistochemistry of germ cells. The most useful transcription factor was OCT4. In addition, to its already described value in distinguishing germinoma and embryonal carcinoma from yolk sac tumor and in differentiating classic from spermatocytic seminoma, we found that OCT4 is useful in confirming or ruling out potential malignancy in MGC-SCST of either gonad. Expression of OCT4 in most ovarian MGC-SCSTs resembles that of dysgerminoma, whereas most testicular examples resemble that of spermatocytic seminoma and normal adult testis. Thus, most MGC-SCSTs of the ovary are potentially malignant, and corresponding tumors of the testis are mostly benign; however, exceptions likely can be detected by the use of OCT4, potentially leading to more appropriate clinical management in some cases. SALL4 is an underutilized transcription factor that is useful in distinguishing testicular MGC-SCST from sex cord stromal tumor, unclassified in those neoplasms where the germ cells are sparse or unevenly distributed. Compared with other transcription factors studied, TSPY and its congener TSPYL1 have little value in the assessment of germ cell tumors because of their relatively wide range of expression in normal adult testis and in germ cell tumors.

French National Registry of Rare Peritoneal Surface Malignancies

ClinicalTrials.gov

2017-08-18

Rare Peritoneal Surface Malignancies; Pseudomyxoma Peritonei; Peritoneal Mesothelioma; Desmoplastic Small Round Cell Tumor; Psammocarcinoma; Primary Peritoneal Serous Carcinoma; Diffuse Peritoneal Leiomyomatosis; Appendiceal Mucinous Neoplasms

A rare case of palatin tonsillar metastasis from small cell lung cancer.

PubMed

D'Antonio, Chiara; Lombardini, Alberto; Onesti, Concetta Elisa; Falcone, Rosa; Romiti, Adriana; Lombardi, Marianna; Lauro, Salvatore; Marchetti, Paolo

2016-12-01

Tonsillar metastases are absolutely rare. Small cell lung cancer (SCLC) is known to be the most frequent histological type of tonsillar metastases, however the way of tumor cells spreading to tonsil remains controversial. We described a case report of 76-year-old man with SCLC and tonsillar metastases, to highlight the importance of oral cavity evaluation as a part of a clinical exam and to show the rare tumor cells spreading.

Synchronous occurrence of advanced adenocarcinoma with a stromal tumor in the stomach: a case report.

PubMed

Salemis, Nikolaos S; Gourgiotis, Stavros; Tsiambas, Evangelos; Karameris, Andreas; Tsohataridis, Efstathios

2008-06-01

Gastrointestinal stromal tumors (GISTs) are rare mesenchymal neoplasms of the digestive tract. Synchronous occurrence of a gastrointestinal stromal tumor with a tumor of different histogenesis is very rare and has been documented in the literature mainly in case reports. We present the case of a 78-year old female patient who underwent surgery for an advanced gastric carcinoma during which a gastric stromal tumor was incidentally discovered. A review of the literature is also conducted on the extremely rare synchronous occurrence of malignant tumors of different histogenesis in the stomach.

Metastatic brain tumor

MedlinePlus

... the brain, the type of tissue involved, the original location of the tumor, and other factors. In rare cases, doctors do not know the original location. This is called cancer of unknown primary ( ...

Integrated Molecular Characterization of Gastrointestinal Stromal Tumors (GIST) Harboring the Rare D842V Mutation in PDGFRA Gene

PubMed Central

Astolfi, Annalisa; Patterson, Janice; Nannini, Margherita; Saponara, Maristella; Gatto, Lidia; Santini, Donatella; do Valle, Italo F.; Castellani, Gastone; Fiorentino, Michelangelo; von Mehren, Margaret; Brandi, Giovanni; Biasco, Guido; Heinrich, Michael C.; Pantaleo, Maria Abbondanza

2018-01-01

Gastrointestinal stromal tumors (GIST) carrying the D842V activating mutation in the platelet-derived growth factor receptor alpha (PDGFRA) gene are a very rare subgroup of GIST (about 10%) known to be resistant to conventional tyrosine kinase inhibitors (TKIs) and to show an indolent behavior. In this study, we performed an integrated molecular characterization of D842V mutant GIST by whole-transcriptome and whole-exome sequencing coupled with protein–ligand interaction modelling to identify the molecular signature and any additional recurrent genomic event related to their clinical course. We found a very specific gene expression profile of D842V mutant tumors showing the activation of G-protein-coupled receptor (GPCR) signaling and a relative downregulation of cell cycle processes. Beyond D842V, no recurrently mutated genes were found in our cohort. Nevertheless, many private, clinically relevant alterations were found in each tumor (TP53, IDH1, FBXW7, SDH-complex). Molecular modeling of PDGFRA D842V suggests that the mutant protein binds imatinib with lower affinity with respect to wild-type structure, showing higher stability during the interaction with other type I TKIs (like crenolanib). D842V mutant GIST do not show any actionable recurrent molecular events of therapeutic significance, therefore this study supports the rationale of novel TKIs development that are currently being evaluated in clinical studies for the treatment of D842V mutant GIST. PMID:29510530

A rare case of mycetoma due to curvularia.

PubMed

Shinde, Rupali S; Hanumantha, Sreedevi; Mantur, Basappa G; Parande, Mahantesh V

2015-01-01

Mycetoma due to Curvularia is a rare clinical entity. Here, we report a case of 27-year-old female presented with multiple swellings and discharging wounds around left shoulder joint since 12 years. Local examination showed diffuse nodular swellings over left anterior chest wall, posterior chest wall, and axilla. Multiple nodules and discharging sinuses were seen. Fungal culture of the biopsy of the lesion revealed Curvularia species. Patient showed significant clinical improvement with itraconazole therapy.

47 CFR 80.1252 - Designated entities.

Code of Federal Regulations, 2011 CFR

2011-10-01

... 47 Telecommunication 5 2011-10-01 2011-10-01 false Designated entities. 80.1252 Section 80.1252... MARITIME SERVICES Competitive Bidding Procedures § 80.1252 Designated entities. (a) This section addresses certain issues concerning designated entities in maritime communications services subject to competitive...

47 CFR 80.1252 - Designated entities.

Code of Federal Regulations, 2010 CFR

2010-10-01

... 47 Telecommunication 5 2010-10-01 2010-10-01 false Designated entities. 80.1252 Section 80.1252... MARITIME SERVICES Competitive Bidding Procedures § 80.1252 Designated entities. (a) This section addresses certain issues concerning designated entities in maritime communications services subject to competitive...

Hepatic perivascular epithelioid cell tumor treated by transarterial embolization plus radiofrequency ablation: A case report and literature review.