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Sample records for hemosiderotic fibrohistiocytic lipomatous

  1. Hemosiderotic dermatofibroma*

    PubMed Central

    Villarreal, Delky Johanna Villarreal; Luz, Aline Tanus; Buçard, Alice Mota; de Abreu, Luciana; Cuzzi, Tullia

    2017-01-01

    We report a rare clinical case of hemosiderotic dermatofibroma in a 36-year-old female patient. The main dermatoscopic finding was represented by homogeneous blue-gray pigmentation. The aim of this report is to demonstrate the rarity of the lesion and the dermatoscopic importance it assumes by sharing a blue-gray homogeneous pattern with other benign and malignant lesions. PMID:28225963

  2. Targetoid hemosiderotic hemangioma - Case report*

    PubMed Central

    Kakizaki, Priscila; Valente, Neusa Yuriko Sakai; Paiva, Daniele Loureiro Mangueira; Dantas, Fernando Luiz Teixeira; Gonçalves, Sheila Viana Castelo Branco

    2014-01-01

    Targetoid Hemosiderotic Hemangioma, also known as Hobnail Hemangioma, is a lesion of vascular origin, probably lymphatic. The most common clinical feature is a solitary violaceous papule surrounded by a pale, thin area and a peripheral ecchymotic ring, simulating a target. Histopathologically, there is a biphasic pattern, with dilated vessels in the superficial dermis and pseudoangiosarcomatous pattern in the deep dermis, and endothelial cells with hobnail morphology. A simple excision is curative. We report a rare case of Targetoid Hemosiderotic Hemangioma. PMID:25387500

  3. Lipomatous hamartoma of mitral valve.

    PubMed

    Bhat, Seetharama P S; Gowda, Girish S L; Chikkatur, Raghavendra; Nanjappa, Manjunath C

    2016-01-01

    Primary cardiac tumors are very rare, and tumors arising from cardiac valves are extremely rare. We present a case of lipomatous hamartoma of the mitral valve in a young female. This is the 6th case of lipomatous hamartoma of the mitral valve to be reported. We discuss the operative and histopathological findings.

  4. Lipomatous meningioma: A rare subtype of benign metaplastic meningiomas

    PubMed Central

    Yüksel, Mehmet Onur; Gürbüz, Mehmet Sabri; Tanrıverdi, Osman; Özmen, Sevilay Akalp

    2017-01-01

    Lipomatous meningiomas are extremely rare subtypes of benign meningiomas and are classified as metaplastic meningioma in the World Health Organization classification. We present a 77-year-old man presented with the history of a gradually intensifying headache for the last 3 months. A right frontoparietal mass was detected on his cranial magnetic resonance imaging. The patient was operated on via a right frontoparietal craniotomy, and histopathological diagnosis was lipomatous meningioma. Distinctive characteristics of lipomatous meningiomas were discussed with special emphasis to importance of immunohistochemical examinations, particularly for its differentiation from the tumors showing similar histology though having more aggressive character. PMID:28149104

  5. Myxoid Plexiform Fibrohistiocytic Tumor Masquerading as Ganglion Cyst: A Case Report and Literature Review

    PubMed Central

    Lan, Jui; Huang, Hsuan-Ying

    2017-01-01

    Background. Plexiform fibrohistiocytic tumor is a distinctive mesenchymal neoplasm of low-grade malignancy, with the capacity for biphasic differentiation toward a fibroblastic or histiocyte-like morphology. Clinically, these lesions affect different areas of the body and appear as painless, slowly growing, dermal or subcutaneous masses. To date, only three cases of myxoid variant have been reported in the English literature. Case Presentation. A 45-year-old female patient presented with a subcutaneous nodule in the right popliteal fossa. The initial impression was a benign ganglion cyst. The soft tissue tumor has been treated by local excision. The histopathological and the immunohistochemical findings supported the diagnosis of myxoid plexiform fibrohistiocytic tumor. The postoperative course was uneventful, and the patient received regular follow-up examination. She is alive without any recurrence. Conclusions. This case demonstrates how to distinguish this distinctive plexiform fibrohistiocytic tumor from other problematic soft tissue tumors. It is also remarkable for its rarely reported extensive myxoid change. Currently, there is no clear-cut correlation between the clinicopathologic findings and the behavior of this unusual variant. PMID:28255491

  6. Lipomatous muscular 'dystrophy' of Piedmontese cattle.

    PubMed

    Biasibetti, E; Amedeo, S; Brugiapaglia, A; Destefanis, G; Di Stasio, L; Valenza, F; Capucchio, M T

    2012-11-01

    Lipomatous myopathy is a degenerative muscle pathology characterized by the substitution of muscle cells with adipose tissue, sporadically reported in cattle, pigs, and rarely in sheep, horses and dogs. This study investigated the pathology of this myopathy in 40 muscle samples collected from regularly slaughtered Piedmontese cattle living in Piedmont region (Italy). None of the animals showed clinical signs of muscular disease. Muscle specimens were submitted to histological and enzymatic investigations. Gross pathology revealed a different grade of infiltration of adipose tissue, involving multiple or single muscles. The most affected regions were the ventral abdomen and the shoulders, especially the cutaneous muscles and the muscles of the thoracic group. Morphological staining revealed an infiltration of adipose tissue varying in distribution and severity, changes in muscle fibre size and increased number of fibres with centrally located nuclei, suggesting muscle degeneration-regeneration. Necrosis and non-suppurative inflammatory cells were also seen. Furthermore, proliferation of connective tissue and non-specific myopathic changes were present. Chemical and physical characteristics of the affected tissue were also evaluated. The authors discuss about the aetiopathogenesis and classification of this muscle disorder whose histological lesions were similar to those reported in human dystrophies.

  7. Plexiform Fibrohistiocytic Tumor on the Ear: Case Report and Immunohistochemical Investigation of Stromal Factor

    PubMed Central

    Shido, Kosuke; Fujimura, Taku; Kakizaki, Aya; Furudate, Sadanori; Asano, Masayuki; Aiba, Setsuya

    2016-01-01

    Plexiform fibrohistiocytic tumor (PFT) is a rare mesenchymal neoplasm of intermediate malignant potential with a high local recurrence rate. In this report, we describe a case of PFT on the ear, which showed a dense deposition of periostin (POSTN) in the stromal areas of the tumor. In addition, dense infiltration of CD163+CD206– tumor-associated macrophages (TAMs) was detected in the same areas as POSTN. Since POSTN was previously reported to possess immunomodulatory effects on TAMs, our present report suggested the significance of the POSTN/TAMs axis in the progression of PFT. PMID:27293390

  8. A Tete – a – tete of benign, borderline and malignant fibrohistiocytic tumor

    PubMed Central

    M.V, Rashmi.; P, Pavithra; G.M, Shivakumarappa

    2016-01-01

    Dermatofibrosarcoma protruberans is a relatively uncommon slow growing, locally aggressive fibrous tumor of the skin. It has a prospensity of progressing to fibrosarcomatous change in 5% of the cases. We present a case of a 56 yr old male with presented to the outpatient department of surgery, Sri Siddhartha Medical College, Tumkur with a chest swelling in 2013. FNAC was inconclusive and the mass was excised. On histopathology, areas of benign fibrohistiocytic tumor, dermatofibrosarcoma protruberans and fibrosarcomatous dermatofibrosarcoma were identified in the same tumor. Immunohistochemistry confirmed the diagnosis of DFSP with fibrosarcomatous change. Although, transformed DFSP is more aggressive, the prognosis is influenced by the extent of excision and with wide excision, there may be little increased risk for recurrence and metastasis over that of conventional DFSP. PMID:27799980

  9. Arborizing vessels in a targetoid hemosiderotic hemangioma: mistaken dermoscopic diagnosis of basal cell carcinoma

    PubMed Central

    Enei, María L.; Paschoal, Francisco M.; Valdes, Rodrigo

    2017-01-01

    Targetoid hemosiderotic hemangioma (THH) or hobnail hemangioma (HH) is a benign vascular lesion that presents with the classical clinical presentation of a ring-shaped tumor having a targetoid appearance, with a central purple-brown papule surrounded by a thin pale area and an ecchymotic ring on the outside. Dermoscopic features and patterns of HH have been documented and have proven to be sufficient to establish a clinical diagnosis in many cases. We present a facial lesion in which both the clinical presentation and dermoscopy were atypical. The presence of arborizing vessels in the dermoscopic pattern, never before described for this lesion, led us to the diagnosis of basocellular carcinoma (BCC). We also report the changes in this pattern experienced over 12 months of progression and their correlation with the histopathologic findings. PMID:28243494

  10. Lipomatous hemangiopericytoma in a child: A case report with immunohistochemical evaluation

    PubMed Central

    Madala, Jayakiran; Guttikonda, Venkateswara Rao; Korlepara, Rajani

    2015-01-01

    Lipomatous hemangiopericytomas are rare soft-tissue tumors that show areas of hemangiopericytoma like vascular pattern admixed with lipid containing cells. It is now considered a subtype of solitary fibrous tumor due to histopathological and immunohistochemical similarities. To date, only a few cases have been adequately reported in the medical literature. A case of lipomatous hemangiopericytoma in an 11-year-old female patient is presented and the clinical, histopathological and immunohistochemical features are discussed, along with a literature review. To the best of our knowledge, this is the first known case of a lipomatous hemangiopericytoma in a pediatric patient. Our case report further emphasizes that a number of studies should be evaluated to delineate hemangiopericytomas from solitary fibrous tumors. PMID:26097315

  11. An Association of Multiple Well Differentiated Liposarcomas, Lipomatous Tissue and Hereditary Retinoblastoma

    PubMed Central

    Stone, C. A.; Sarsfield, P.; Smith, M.; Smithson, S. F.; Silver, D.; Devaraj, V. S.

    2005-01-01

    Well differentiated liposarcoma (atypical lipomatous tumour) is a low grade tumour, with no metastatic potential unless dedifferentiation supervenes. When superficial, it recurs locally only occasionally after marginal excision. We present a patient in whom bilateral childhood retinoblastoma was followed by later development of massive confluent areas of low grade liposarcoma and lipomatous tissue affecting the upper extremities and trunk. We discuss the role of mutations in the retinoblastoma gene (RB1) in linking these conditions and demonstrate the surgical management of an extremely unusual and challenging case. PMID:18521424

  12. Lipomatous Hypertrophy of the Atrial Septum in a Patient Undergoing Coronary Artery Bypass Surgery

    PubMed Central

    Weyand, Michael; Agaimy, Abbas

    2016-01-01

    Background. Lipomatous hypertrophy of the atrial septum (LHAS) is a rare entity characterized by mass-forming deposition of fatty tissue within the atrial septum. To date, <300 cases have been reported; many of them were autopsy findings. The clinical presentation of LHAS varies from incidental asymptomatic mass (most frequent form) to severe life-threatening cardiovascular complications necessitating emergency cardiac surgery. Case Presentation. Here, we present the successful surgical resection of such a massive LHAS which was found incidentally on preoperative investigation of a 71-year-old patient with progressive coronary heart disease. Histology confirmed the diagnosis of lipomatous hypertrophy of the atrial septum. Conclusions. The described case report illustrates an unusual example of LHAS in a patient undergoing a planned coronary artery bypass surgery. In this case, surgical intervention was justified to avoid later outflow obstructions. PMID:28078155

  13. Lipomatous hypertrophy of the interatrial septum: a pathological and clinical approach.

    PubMed

    Xanthos, Theodoros; Giannakopoulos, Nikodimos; Papadimitriou, Lila

    2007-09-14

    Lipomatous hypertrophy of the interatrial septum (LHIS) is a rare benign disorder that is characterized by accumulation and deposition of fat in the interatrial septum. Its etiology is still unknown, despite the theories that have been suggested. It usually occurs in older, obese people with a higher incidence in women. In most cases, it remains asymptomatic, thus its diagnosis is rarely made during a person's lifetime and it is made incidentally or during autopsy. LHIS can cause atrial arrhythmias, obstructive flow symptoms and sometimes death. The diagnosis of LHIS can be made by the use of imaging techniques, with the best results given by multislice-CT (MSCT) scanning. Surgical intervention is usually avoided and the best management is early diagnosis, reassurance and inactivity. However, in cases of severe superior vena cava obstruction or intractable rhythm disturbance, surgical excision is performed together with reconstruction of the interatrial septum.

  14. Duplication of chromosome segment 12q13-15 in a lipomatous tumor with minimal nuclear atypia: A case report

    PubMed Central

    NISHIO, JUN; IWASAKI, HIROSHI; SHIBATA, TERUFUMI; NABESHIMA, KAZUKI; NAITO, MASATOSHI

    2016-01-01

    Ordinary lipoma is cytogenetically characterized by structural rearrangements, particularly translocations, of 12q13-15. By contrast, atypical lipomatous tumors exhibit supernumerary ring or giant marker chromosomes that are composed mainly of amplified material from the 12q13-15 chromosome segment. The present study describes the cytogenetic and molecular cytogenetic findings from a lipomatous tumor with minimal nuclear atypia that was identified in a 49-year-old female patient. Magnetic resonance imaging of the right shoulder revealed a 13-cm fatty mass in the subcutaneous layer that possessed only pencil-line septa. Contrast-enhanced fat-suppressed T1-weighted images demonstrated faint enhancement. A marginal excision was performed. Histologically, the tumor was composed of lobules that consisted of mature adipocytes separated by thin fibrous septa. There was minimal nuclear atypia in certain cells, and a small number of binucleated cells were also observed within the tumor. Immunohistochemically, the tumor cells did not reveal the expression of murine double-minute 2 (MDM2). Cytogenetic analysis revealed a complex karyotype with several numerical and structural alterations, including 12q rearrangements. Spectral karyotyping demonstrated a duplication of chromosome segment 12q13-15. Interphase fluorescence in situ hybridization analysis revealed no MDM2 gene amplification. The present case indicates that duplication of 12q may be associated with minimal nuclear atypia in a subset of lipomatous tumors. PMID:27073568

  15. Lipomatous ependymoma: report of a rare differentiation pattern with a comprehensive review of literature.

    PubMed

    Gaur, Kavita; Batra, Vineeta V; Gupta, Rakesh; Sharma, M C; Narang, Poonam; Pandey, P N

    2016-07-01

    We report the case of a 13-year-old girl presenting with left-sided hemiparesis, altered sensorium and episodic headache with bouts of projectile vomiting. Imaging revealed a large heterodense intraventricular mass lesion displaying focal calcification and hyperintensity on T1- and T2- weighted fluid attenuated inversion recovery (FLAIR) magnetic resonance images suggesting the presence of intratumoral fat. Histologically, the tumour showed sheets of glial cells, focal perithelial rosettes and individual cells showing fat vacuoles. The morphological impression was of an ependymoma with lipomatous differentiation. Glial fibrillary acid protein (GFAP) immunohistochemistry revealed positivity in the cytoplasmic processes of the tumour cells as well as in the cytoplasmic rim of the cells having an adipocytic appearance. S100 and vimentin were also immunoreactive. Ultrastructural studies confirmed the ependymal differentiation of the tumour and the presence of an osmiophilic fat component confirming the diagnosis. After 1 year of follow-up, the patient presented with similar complaints and MRI evidence of recurrence of the tumour. A comprehensive literature review revealed that half of the reported cases of this pattern recurred suggesting a possibly tenacious clinical course.

  16. Correlation between clinicopathological features and karyotype in lipomatous tumors. A report of 178 cases from the Chromosomes and Morphology (CHAMP) Collaborative Study Group.

    PubMed Central

    Fletcher, C. D.; Akerman, M.; Dal Cin, P.; de Wever, I.; Mandahl, N.; Mertens, F.; Mitelman, F.; Rosai, J.; Rydholm, A.; Sciot, R.; Tallini, G.; van den Berghe, H.; van de Ven, W.; Vanni, R.; Willen, H.

    1996-01-01

    Soft tissue tumors commonly show cytogenetic abnormalities, some of which are tumor specific. Lipomatous tumors represent the largest category of soft tissue neoplasms, and numerous karyotypic aberrations have been identified. However, clear-cut correlation between morphology and karyotype has not been undertaken on a systematic basis in a double-blind setting. The morphological features and histological diagnosis of 178 lipomatous neoplasms were reviewed independently without knowledge of the clinical data. The consensus diagnoses were then correlated with the clinical findings and compared with the tumors' karyotypes, using G-banded preparations from short-term cultures. The data were collated by a multicenter collaborative group of pathologists, geneticists, and surgeons. Clonal chromosomal abnormalities were identified in 149 cases studied (84%) and, to a large extent, the karyotype correlated with the morphological diagnosis. Specifically, 26 (96%) of 27 myxoid liposarcomas and its poorly differentiated variants showed a t(12;16); 29 (78%) of 37 atypical lipomatous tumors (including 5 dedifferentiated cases) showed ring chromosomes; 74 (80%) of 93 subcutaneous and intramuscular lipomas had karyotypic aberrations affecting mainly 12q, 6p, and 13q; 7 of 8 spindle cell and pleomorphic lipomas had aberrations of 16q; 3 lipoblastomas showed 8q rearrangements; and 2 hibernomas showed 11q abnormalities. We conclude that cytogenetic abnormalities are common in lipomatous tumors, correlate reliably with morphological sub-type in many cases, and can be of diagnostic value in histologically borderline or difficult cases. PMID:8579124

  17. Relationship of endothelial area with VEGF-A, COX-2, maspin, c-KIT, and DOG-1 immunoreactivity in liposarcomas versus non-lipomatous soft tissue tumors.

    PubMed

    Jung, Ioan; Gurzu, Simona; Turdean, Sabin; Ciortea, Diana; Sahlean, Danut Ioan; Golea, Mircea; Bara, Tivadar

    2015-01-01

    Soft tissue tumors are rare tumors that show a heterogeneous structure; thus far, their molecular behavior has not been elucidated. The aim of our study was to define the relationship between microvessel density (MVD), evaluated with CD31, and other immunohistochemical markers, such as vascular endothelial growth factor (VEGF), cyclooxygenase-2 (COX-2), CD34, maspin, DOG-1, and c-KIT. Immunostains were done in 55 cases consisting of benign and malignant tumors, such as liposarcomas, dermatofibrosarcomas, and tumors with histiocytic differentiation. Renal tubes were used as external control for VEGF, maspin, and DOG-1. Although DOG-1 is considered a specific marker for gastrointestinal tumors (GISTs), its positivity, correlated with c-KIT and VEGF immunoexpression, was also shown by dermatofibrosarcomas and tumors with histiocytic and lipomatous differentiation, suggesting its possible pro-angiogenic role. Maspin expression was observed in adipose tissue tumors only. Regarding angiogenesis, 31 of the 55 cases were VEGF-positive, such positivity being directly correlated with COX-2 and CD34 positivity as evaluated in the tumor cells and also with MVD. Although no significant differences in angiogenic activity were found between benign and malignant non-lipomatous tumors, the MVD was directly correlated with the histological type/grade of liposarcomas. Based on these aspects, we conclude that VEGF/COX-2-induced angiogenesis is specific for non-lipomatous tumors, whereas liposarcomas are dependent on the VEGF/maspin angiogenic pathway. The DOG-1/c-KIT/VEGF target may be used for further personalized therapy of soft tissue sarcomas. No data about DOG-1 and maspin positivity in liposarcomas have been published to date.

  18. Lipomatous/Extensively Vacuolated Ependymoma with Signet-Ring Cell-Like Appearance: Analysis of a Case with Extensive Literature Review.

    PubMed

    Salazar, Miguel Fdo; Tena-Suck, Martha Lilia; Ortiz-Plata, Alma; Salinas-Lara, Citlaltepetl; Rembao-Bojórquez, Daniel

    2017-01-01

    "Lipomatous" and "extensively vacuolated" are descriptive captions that have been used to portray a curious subset of ependymomas distinctively bearing cells with a large vacuole pushing the nucleus to the periphery and, thus, simulating a signet-ring cell appearance. Here, we would like to report the first ependymoma of this kind in a Latin American institution. A 16-year-old boy experienced cephalea during three months. Magnetic resonance imaging scans showed a left paraventricular tumour which corresponded to anaplastic ependymoma. Intriguingly, it was also composed of cells with single or multiple hollow cytoplasmic vacuoles sometimes giving a signet-ring cell-like configuration. Immunolabeling of these showed membrane positivity for GFAP, PS100, and CD99, while Ki-67 expression was null. Ultrastructural examination of retrieved paraffin-embedded tissue showed the presence of scarce microlumina filled with microvilli but failed to demonstrate any content in such optically empty vacuoles as only scant granulofibrillary debris was observed. A schism prevails at present regarding these unusual morphological variants, being either "lipomatous" or "vacuolated" based mainly on the EMA immunoprofile. This, however, is a misappropriate approaching. Could it be that perhaps we are dealing with the same histopathological entity or it may simply happen that fixation and artefacts cannot allow for their proper identification?

  19. Atypical lipomatous tumor/"well-differentiated liposarcoma" of the skin clinically presenting as a skin tag: clinicopathologic, immunohistochemical, and molecular analysis of 2 cases.

    PubMed

    Paredes, Bruno E; Mentzel, Thomas

    2011-08-01

    Liposarcomas are extremely rare in the skin. When they involve the skin, it is usually by upward spread from a subcutaneous or deeper seated liposarcoma. Very rarely, liposarcoma metastasize to the skin or arise as a primary dermal lesion. We describe 2 cases of atypical lipomatous tumor "well-differentiated liposarcoma" located in dermis. Both presented clinically as a skin tag. The neoplasms arose in a 56-year-old female and a 69-year-old male patient. Both lesions were treated by excision and reexcision. In addition to classical morphology of atypical lipomatous tumor with evidence of lipoblasts and atypical adipocytes, immunohistochemistry with nuclear murine double-minute type 2 protein and cyclin-dependent kinase-4 expression as well as fluorescence in situ hybridization analysis showing an amplification of murine double-minute type 2 protein and cyclin-dependent kinase-4 were helpful to establish the diagnosis. None of the cases recurred after surgical treatment. These 2 cases show the importance of not to misdiagnose lesions which clinically may appear to be benign.

  20. Expression of HMGI-C and HMGI(Y) in ordinary lipoma and atypical lipomatous tumors: immunohistochemical reactivity correlates with karyotypic alterations.

    PubMed Central

    Tallini, G.; Dal Cin, P.; Rhoden, K. J.; Chiapetta, G.; Manfioletti, G.; Giancotti, V.; Fusco, A.; Van den Berghe, H.; Sciot, R.

    1997-01-01

    The high mobility group proteins (HMGs) are a class of low molecular weight, nonhistone, nuclear proteins that bind DNA and function as transcription cofactors. This class includes the HMGI family members HMGI-C and HMGI(Y). Both are not significantly expressed in differentiated adult tissues, including fat, but their expression is induced in proliferating and transformed cells. Their involvement in the development of lipomatous tumors has been recently demonstrated for HMGI-C, which is encoded by a gene located at 12q15, the chromosomal segment often rearranged in ordinary lipomas. The same chromosomal segment is consistently amplified in the ring and giant marker chromosomes of atypical lipomatous tumors (ALTs), a term used to designate tumors previously labeled as well differentiated liposarcomas or atypical lipomas. The involvement of HMGI(Y) is strongly suspected as the gene coding for HMGI(Y) is located at 6p21, a chromosomal segment rearranged in a subset of ordinary lipomas. HMGI-C or HMGI(Y) protein expression was analyzed immunohistochemically in a group of 39 well differentiated adipose neoplasms (19 lipomas and 20 ALTs) of known karyotype using polyclonal antibodies raised against a recombinant protein (HMGI-C) and against a synthetic peptide (HMGI(Y)). The results of this study demonstrate that HMGI proteins are commonly expressed in well differentiated adipose neoplasms. Seventeen of twenty ALTS (85.0%), all of which had ring or giant marker chromosomes with amplification of 12q13-15, strongly expressed HMGI-C. HMGI-C expression was detected in 7 of 11 ordinary lipomas (63.6%) with alterations at 12q14-15 and in one case with an abnormal karyotype that included double minute chromosomes. HMGI-C immunoreactivity correlates with 12q13-15 chromosomal alterations (P = 0.001). HMGI(Y) reactivity was demonstrated in only two ordinary lipomas: one with 6p21 rearrangement and one with normal karyotype. No significant HMGI(Y) expression was found in the ALT

  1. Infiltrating hybrid mesenchymal tumor of skeletal muscle showing lipomatous, hemangiomatous, leiomyomatous and osseous features - An unusual soft tissue tumor providing insight into the pathogenesis of lipoma variants.

    PubMed

    Chow, Louis Tsun Cheung

    2015-06-01

    Infiltrating angiolipoma and osteolipoma of the hand are rare. A 40-year-old man presented with slowly enlarging swelling of his right hand for two and half years without functional deficit but it became painful with slight limitation of movement for the past few months. Plain radiograph showed a large soft tissue swelling with specks of calcifications. Ultrasonography and magnetic resonance imaging revealed an infiltrative mass in the right palm deep to the flexor tendons. As biopsy suggested infiltrative angiolipoma of skeletal muscle, debulking of the tumor was performed. The tumor showed coexistence of all four mesenchymal elements, fat, blood vessel, smooth muscle and bone in various combinations in the form of angiolipomatous, osteolipomatous, ossified intramuscular hemangiomatous, myolipomatous and angiomyolipomatous patterns throughout the entire tumor. Small meningothelial-like whorls of spindle cells were focally seen, some showed intramembranous ossification forming small woven bony spicules in their centers. There were no atypical cells or lipoblasts. Staining for CDK4, MDM2, p16, HMB45 and Melan A was negative. The diagnosis was "infiltrating hybrid mesenchymal tumor of skeletal muscle showing lipomatous, hemangiomatous, leiomyomatous and osseous features". The fairly even admixture of the various components supports the neoplastic participation of each individual element. Hybrid mesenchymal tumor most probably originates from multipotent neoplastic cells showing multidirectional differentiation.

  2. Differential diagnosis of atypical lipomatous tumor/well-differentiated liposarcoma and dedifferentiated liposarcoma: utility of p16 in combination with MDM2 and CDK4 immunohistochemistry.

    PubMed

    Kammerer-Jacquet, Solène-Florence; Thierry, Sixte; Cabillic, Florian; Lannes, Morgane; Burtin, Florence; Henno, Sébastien; Dugay, Frédéric; Bouzillé, Guillaume; Rioux-Leclercq, Nathalie; Belaud-Rotureau, Marc-Antoine; Stock, Nathalie

    2017-01-01

    The differential diagnosis between atypical lipomatous tumor/well-differentiated liposarcoma (ALT/WDLPS) and dedifferentiated liposarcoma (DDLPS) from their morphologic counterparts is challenging. Currently, the diagnosis is guided by MDM2 and CDK4 immunohistochemistry (IHC) and is confirmed by the amplification of the corresponding genes. Recently, p16 IHC has been proposed as a useful diagnostic biomarker. The objective was to assess the utility of p16 IHC in the differential diagnosis of ALT/WDLPS and DDLPS. Our series included 101 tumors that were previously analyzed using fluorescence in situ hybridization for MDM2 and CDK4 amplification. We compared sensitivity and specificity of p16 IHC to MDM2 and CDK4 IHC in the differential diagnosis of ALT-WDLPS (n=19) versus benign adipocytic tumors (n=44) and DDLPS (n=18) versus mimicking sarcomas (n=20). In the differential diagnosis of ALT-WDLPS, p16 had a sensitivity of 89.5% but a specificity of 68.2%, which was impaired by false-positive lipomas with secondary changes, especially in biopsies. Likewise, in the differential diagnosis of DDLPS, p16 had a sensitivity of 94.4% and a specificity of 70%, which hampered its use as a single marker. However, adding p16 to MDM2 and/or CDK4 increased diagnostic specificity. Indeed, MDM2+/p16+ tumors were all ALT-WDLPS, and MDM2-/p16- tumors were all benign adipocytic tumors. Moreover, all MDM2+/CDK4+/p16+ tumors were DDLPS, and the MDM2-/CDK4-/p16- tumor was an undifferentiated sarcoma. Although the use of p16 as a single immunohistochemical marker is limited by its specificity, its combination with MDM2 and CDK4 IHC may help discriminate ALT-WDLPS/DDLPS.

  3. The New Kids on the Block: Recently Characterized Soft Tissue Tumors.

    PubMed

    Riddle, Nicole N; Gardner, Jerad M

    2015-09-01

    Soft tissue pathology is a rapidly changing subspecialty. New entities are described relatively often, and new molecular findings for soft tissue tumors are reported in the literature almost every month. This article summarizes the major features and diagnostic approach to several recently characterized entities: superficial CD34-positive fibroblastic tumor, fibrosarcoma-like lipomatous neoplasm, angiofibroma of soft tissue, low-grade sinonasal sarcoma with neural and myogenic features, malignant gastrointestinal neuroectodermal tumor, hemosiderotic fibrolipomatous tumor, and epithelioid inflammatory myofibroblastic sarcoma. Additionally, the article also provides a summary table of recent molecular findings in soft tissue tumors.

  4. Pericytic mimicry in well-differentiated liposarcoma/atypical lipomatous tumor.

    PubMed

    Shen, Jia; Shrestha, Swati; Rao, P Nagesh; Asatrian, Greg; Scott, Michelle A; Nguyen, Vi; Giacomelli, Paulina; Soo, Chia; Ting, Kang; Eilber, Fritz C; Peault, Bruno; Dry, Sarah M; James, Aaron W

    2016-08-01

    Pericytes are modified smooth muscle cells that closely enwrap small blood vessels, regulating and supporting the microvasculature through direct endothelial contact. Pericytes demonstrate a distinct immunohistochemical profile, including expression of smooth muscle actin, CD146, platelet-derived growth factor receptor β, and regulator of G-protein signaling 5. Previously, pericyte-related antigens have been observed to be present among a group of soft tissue tumors with a perivascular growth pattern, including glomus tumor, myopericytoma, and angioleiomyoma. Similarly, malignant tumor cells have been shown to have a pericyte-like immunoprofile when present in a perivascular location, seen in malignant melanoma, glioblastoma, and adenocarcinoma. Here, we examine well-differentiated liposarcoma specimens, which showed some element of perivascular areas with the appearance of smooth muscle (n = 7 tumors). Immunohistochemical staining was performed for pericyte antigens, including smooth muscle actin, CD146, platelet-derived growth factor receptor β, and regulator of G-protein signaling 5. Results showed consistent pericytic marker expression among liposarcoma tumor cells within a perivascular distribution. MDM2 immunohistochemistry and fluorescence in situ hybridization for MDM2 revealed that these perivascular cells were of tumor origin (7/7 tumors), whereas double immunohistochemical detection for CD31/CD146 ruled out an endothelial cell contribution. These findings further support the concept of pericytic mimicry, already established in diverse malignancies, and its presence in well-differentiated liposarcoma. The extent to which pericytic mimicry has prognostic significance in liposarcoma is as yet unknown.

  5. Lipomatous/Extensively Vacuolated Ependymoma with Signet-Ring Cell-Like Appearance: Analysis of a Case with Extensive Literature Review

    PubMed Central

    Tena-Suck, Martha Lilia; Ortiz-Plata, Alma; Salinas-Lara, Citlaltepetl; Rembao-Bojórquez, Daniel

    2017-01-01

    “Lipomatous” and “extensively vacuolated” are descriptive captions that have been used to portray a curious subset of ependymomas distinctively bearing cells with a large vacuole pushing the nucleus to the periphery and, thus, simulating a signet-ring cell appearance. Here, we would like to report the first ependymoma of this kind in a Latin American institution. A 16-year-old boy experienced cephalea during three months. Magnetic resonance imaging scans showed a left paraventricular tumour which corresponded to anaplastic ependymoma. Intriguingly, it was also composed of cells with single or multiple hollow cytoplasmic vacuoles sometimes giving a signet-ring cell-like configuration. Immunolabeling of these showed membrane positivity for GFAP, PS100, and CD99, while Ki-67 expression was null. Ultrastructural examination of retrieved paraffin-embedded tissue showed the presence of scarce microlumina filled with microvilli but failed to demonstrate any content in such optically empty vacuoles as only scant granulofibrillary debris was observed. A schism prevails at present regarding these unusual morphological variants, being either “lipomatous” or “vacuolated” based mainly on the EMA immunoprofile. This, however, is a misappropriate approaching. Could it be that perhaps we are dealing with the same histopathological entity or it may simply happen that fixation and artefacts cannot allow for their proper identification? PMID:28286687

  6. Extensive lipoma causing suprascapular nerve entrapment.

    PubMed

    Zvijac, John E; Sheldon, Daniel A; Schürhoff, Matthias R

    2003-03-01

    Suprascapular nerve entrapment is a frequently misdiagnosed phenomenon. In this case report, we describe a benign lipomatous tumor causing suprascapular nerve entrapment in the spinoglenoid notch, and we describe the history, clinical examination, and radiographic evaluation. Benign lipomatous tumor compressing the suprascapular nerve is mentioned in the literature, but we believe this is the first case report.

  7. Angiolymphoid hyperplasia with eosinophilia presenting multinucleated cells in histology: an ultrastructural study.

    PubMed

    Sakamoto, F; Hashimoto, T; Takenouchi, T; Ito, M; Nitto, H

    1998-07-01

    A case of angiolymphoid hyperplasia with eosinophilia arising on the face of a woman is reported. Histologically, the uniqueness of this case is the presence of multinucleated cells (MNCs), besides the conventional dermal changes. Electron microscopy showed that some of the apparent MNCs are clusters of endothelial cells forming immature vascular lumens with numerous microvilli, and the other MNCs displayed the recognized features of fibrohistiocytic or myofibroblastic cells. Immunohistochemically, some MNCs were positive for Ulex europaeus agglutinin and Factor VIII-related antigen. From these findings, some of the MNCs are histologically endothelial sprouts, and the others are fibrohistiocytic cells in the present case.

  8. The Molecular Signature of HIV-1-Associated Lipomatosis Reveals Differential Involvement of Brown and Beige/Brite Adipocyte Cell Lineages.

    PubMed

    Cereijo, Rubén; Gallego-Escuredo, José Miguel; Moure, Ricardo; Villarroya, Joan; Domingo, Joan Carles; Fontdevila, Joan; Martínez, Esteban; Gutiérrez, Maria del Mar; Mateo, María Gracia; Giralt, Marta; Domingo, Pere; Villarroya, Francesc

    2015-01-01

    Highly active antiretroviral therapy has remarkably improved quality of life of HIV-1-infected patients. However, this treatment has been associated with the so-called lipodystrophic syndrome, which conveys a number of adverse metabolic effects and morphological alterations. Among them, lipoatrophy of subcutaneous fat in certain anatomical areas and hypertrophy of visceral depots are the most common. Less frequently, lipomatous enlargements of subcutaneous fat at distinct anatomic areas occur. Lipomatous adipose tissue in the dorso-cervical area ("buffalo hump") has been associated with a partial white-to-brown phenotype transition and with increased cell proliferation, but, to date, lipomatous enlargements arising in other parts of the body have not been characterized. In order to establish the main molecular events associated with the appearance of lipomatosis in HIV-1 patients, we analyzed biopsies of lipomatous tissue from "buffalo hump" and from other anatomical areas in patients, in comparison with healthy subcutaneous adipose tissue, using a marker gene expression approach. Both buffalo-hump and non-buffalo-hump lipomatous adipose tissues exhibited similar patterns of non-compromised adipogenesis, unaltered inflammation, non-fibrotic phenotype and proliferative activity. Shorter telomere length, prelamin A accumulation and SA-β-Gal induction, reminiscent of adipocyte senescence, were also common to both types of lipomatous tissues. Buffalo hump biopsies showed expression of marker genes of brown adipose tissue (e.g. UCP1) and, specifically, of "classical" brown adipocytes (e.g. ZIC1) but not of beige/brite adipocytes. No such brown fat-related gene expression occurred in lipomatous tissues at other anatomical sites. In conclusion, buffalo hump and other subcutaneous adipose tissue enlargements from HIV-1-infected patients share a similar lipomatous character. However, a distorted induction of white-to-"classical brown adipocyte" phenotype appears unique of

  9. Radiation Therapy With or Without Combination Chemotherapy or Pazopanib Hydrochloride Before Surgery in Treating Patients With Newly Diagnosed Non-Rhabdomyosarcoma Soft Tissue Sarcomas That Can Be Removed by Surgery

    ClinicalTrials.gov

    2017-04-10

    Adult Fibrosarcoma; Alveolar Soft Part Sarcoma; Angiomatoid Fibrous Histiocytoma; Atypical Fibroxanthoma; Clear Cell Sarcoma of Soft Tissue; Epithelioid Malignant Peripheral Nerve Sheath Tumor; Epithelioid Sarcoma; Extraskeletal Myxoid Chondrosarcoma; Extraskeletal Osteosarcoma; Fibrohistiocytic Neoplasm; Glomus Tumor of the Skin; Inflammatory Myofibroblastic Tumor; Intimal Sarcoma; Leiomyosarcoma; Liposarcoma; Low Grade Fibromyxoid Sarcoma; Low Grade Myofibroblastic Sarcoma; Malignant Cutaneous Granular Cell Tumor; Malignant Peripheral Nerve Sheath Tumor; Malignant Triton Tumor; Mesenchymal Chondrosarcoma; Myxofibrosarcoma; Myxoid Chondrosarcoma; Myxoinflammatory Fibroblastic Sarcoma; Nerve Sheath Neoplasm; PEComa; Pericytic Neoplasm; Plexiform Fibrohistiocytic Tumor; Sclerosing Epithelioid Fibrosarcoma; Stage IB Soft Tissue Sarcoma; Stage IIB Soft Tissue Sarcoma; Stage III Soft Tissue Sarcoma; Stage IV Soft Tissue Sarcoma; Synovial Sarcoma; Undifferentiated (Embryonal) Sarcoma; Undifferentiated High Grade Pleomorphic Sarcoma of Bone

  10. Recently characterized soft tissue tumors that bring biologic insight.

    PubMed

    Fletcher, Christopher D M

    2014-01-01

    Previously unrecognized but clinicopathologically (and often molecularly) distinct types of soft tissue tumor continue to be characterized, allowing wider recognition, more consistent application of diagnostic criteria, more reliable prediction of tumor behavior and enhancement of existing classification schemes. Examples of such 'entities' that have become much better understood over the past decade or so include deep 'benign' fibrous histiocytoma, hemosiderotic fibrolipomatous tumor, PEComa, spindle cell liposarcoma, myoepithelial tumors of soft tissue and spindle cell/sclerosing rhabdomyosarcoma. These tumor types, as well as the insights which they have engendered, are briefly reviewed here.

  11. A Benign Cardiac Growth but Not So Indolent

    PubMed Central

    Reddy, Sahadev T.; Biederman, Robert W. W.

    2016-01-01

    Cardiac lipomatous hypertrophy is a rare benign condition that usually involves the interatrial septum. Due to its benign nature it rarely requires intervention. Its presence outside the interatrial septum is reported infrequently. We present a case of lipomatous hypertrophy in the intraventricular septum that was complicated by a severe, symptomatic, and disabling dynamic left ventricular outflow tract obstruction. The symptoms significantly improved following the excision of the mass. In our case transthoracic echocardiogram was used to visualize the mass and measure the severity of the obstruction; Cardiac Magnetic Resonance Imaging was used to characterize the mass and histopathology confirmed the diagnosis. PMID:27293911

  12. The Molecular Signature of HIV-1-Associated Lipomatosis Reveals Differential Involvement of Brown and Beige/Brite Adipocyte Cell Lineages

    PubMed Central

    Cereijo, Rubén; Gallego-Escuredo, José Miguel; Moure, Ricardo; Villarroya, Joan; Domingo, Joan Carles; Fontdevila, Joan; Martínez, Esteban; Gutiérrez, Maria del Mar; Mateo, María Gracia; Giralt, Marta; Domingo, Pere; Villarroya, Francesc

    2015-01-01

    Highly active antiretroviral therapy has remarkably improved quality of life of HIV-1-infected patients. However, this treatment has been associated with the so-called lipodystrophic syndrome, which conveys a number of adverse metabolic effects and morphological alterations. Among them, lipoatrophy of subcutaneous fat in certain anatomical areas and hypertrophy of visceral depots are the most common. Less frequently, lipomatous enlargements of subcutaneous fat at distinct anatomic areas occur. Lipomatous adipose tissue in the dorso-cervical area (“buffalo hump”) has been associated with a partial white-to-brown phenotype transition and with increased cell proliferation, but, to date, lipomatous enlargements arising in other parts of the body have not been characterized. In order to establish the main molecular events associated with the appearance of lipomatosis in HIV-1 patients, we analyzed biopsies of lipomatous tissue from “buffalo hump” and from other anatomical areas in patients, in comparison with healthy subcutaneous adipose tissue, using a marker gene expression approach. Both buffalo-hump and non-buffalo-hump lipomatous adipose tissues exhibited similar patterns of non-compromised adipogenesis, unaltered inflammation, non-fibrotic phenotype and proliferative activity. Shorter telomere length, prelamin A accumulation and SA-β-Gal induction, reminiscent of adipocyte senescence, were also common to both types of lipomatous tissues. Buffalo hump biopsies showed expression of marker genes of brown adipose tissue (e.g. UCP1) and, specifically, of “classical” brown adipocytes (e.g. ZIC1) but not of beige/brite adipocytes. No such brown fat-related gene expression occurred in lipomatous tissues at other anatomical sites. In conclusion, buffalo hump and other subcutaneous adipose tissue enlargements from HIV-1-infected patients share a similar lipomatous character. However, a distorted induction of white-to-“classical brown adipocyte” phenotype

  13. Atypical spindle cell lipoma: a clinicopathologic, immunohistochemical, and molecular study emphasizing its relationship to classical spindle cell lipoma.

    PubMed

    Creytens, David; van Gorp, Joost; Savola, Suvi; Ferdinande, Liesbeth; Mentzel, Thomas; Libbrecht, Louis

    2014-07-01

    We studied a series of spindle cell lipomas arising in atypical sites and showing unusual morphologic features (which we called atypical spindle cell lipoma) to assess if these lesions have the same chromosomal alterations as classical spindle cell lipoma but different from those found in atypical lipomatous tumor/well-differentiated liposarcoma. We investigated alterations of different genes in the 13q14 region and the amplification status of the MDM2 and CDK4 genes at 12q14-15 by multiplex ligation-dependent probe amplification (MLPA) and fluorescence in situ hybridization (FISH) analysis. In the atypical spindle cell lipomas, MLPA revealed deletions in the two nearest flanking genes of RB1 (ITM2B and RCBTB2) and in multiple important exons of RB1. In contrast, in classical spindle cell lipomas, a less complex loss of RB1 exons was found but no deletion of ITM2B and RCBTB2. Moreover, MLPA identified a deletion of the DLEU1 gene, a finding which has not been reported earlier. We propose an immunohistochemical panel for lipomatous tumors which comprises of MDM2, CDK4, p16, Rb, which we have found useful in discriminating between atypical or classical spindle cell lipomas and other adipocytic neoplasms, especially atypical lipomatous tumor/well-differentiated liposarcoma. Our findings strengthen the link between atypical spindle cell lipoma and classical spindle cell lipoma, and differentiate them from atypical lipomatous tumor/well-differentiated liposarcoma.

  14. Soft Tissue Giant Cell Tumour of Low Malignant Potential: A Rare Tumour at a Rare Site

    PubMed Central

    Bhat, Amoolya; V., Geethamani; C., Vijaya

    2013-01-01

    “Soft tissue giant cell tumour of low malignant potential” is considered as the soft tissue counterpart of osteoclastoma of the bone. It is a primary soft tissue tumour which is classified under the category of fibrohistiocytic tumours of intermediate malignancy.Seventy percent of the tumours involve the extremities and only about seven percent of them arise in head and neck region. They are composed of nodules of histiocytes in a vascular stroma, with multinucleated osteoclast-like giant cells positive for vimentin, smooth muscle actin (SMA), CD68 and Tarterate Resistant Acid Phosphatase (TRAP). We are presenting a case of a 75-year-old man who had a nodule on the ala of the nose. Histopathology showed a histiocytic lesion. Benign fibrous histiocytoma, plexiform fibrohistiocytic tumour, solitary reticulohistiocytoma and histioid leprosy were ruled out by using special stains and immunostains. Expression of smooth muscle actin and CD68 confirmed the diagnosis of a soft tissue giant cell tumour with a low malignant potential. PMID:24551690

  15. Bilateral hamartomatous medullary lipoma within the nasal turbinate bones in a cynomolgus monkey (Macaca fascicularis)

    PubMed Central

    KATSUTA, Osamu; SHIBATA, Toru; KURIKI-YAMAMOTO, Yumi; MOCHIZUKI, Takaharu; YOSHIMI, Miwa; NOTO, Takahisa; MANO, Hidetoshi

    2016-01-01

    A 15-year-old male cynomolgus monkey (Macaca fascicularis) showed large bilateral masses in the maxillary sinus. In histopathological examination, both masses revealed benign medullary lipomas within the turbinate bones. The tumors were composed of well-developed lipocytes, trabecular bones and a few blood vessels. Although we initially diagnosed the tumor as bilateral lipomas in the nasal turbinates, it was not differentiated from lipomatous hamartoma. Findings, such as unique symmetrical proliferation, lack of border from the normal marrow and the intact surrounding tissue, indicated a lipomatous hamartoma/hamartomatous lipoma, thought to be a suitable diagnosis of the lesion. Of most interest was that such a proliferating lesion occurred in the nasal turbinate. PMID:27499062

  16. [An unusual case of massive funicular lipoma].

    PubMed

    Masciovecchio, Stefano; Saldutto, Pietro; Del Rosso, Alessandro; Galatioto, Giuseppe Paradiso; Vicentini, Carlo

    2014-01-01

    Intrascrotal lipomas are benign diseases that originate from adipose tissue inside the scrotal sac or constituting the scrotal wall itself. Paratesticular spermatic cord lipomas are a rare type of intrascrotal lipomas. A 78 years old patient in good health comes to our attention for massive tense-elastic swelling of left hemiscrotum appeared about 3 years ago and slowly increasing. Ultrasound evaluation of the intrascrotal mass showed inhomogeneous images mainly hyperechoic, not infiltrating the ipsilateral testis and scrotal wall. The ultrasonography found a lipomatous lesion with benign characteristics and a surgical excision has been performed. The lipomatous mass removed presented a size equal to 25 cm x 14 cm x 11 cm and a weight of about 490 gr. The microscopic examination of the tissue showed only the presence of mature adipocytes in the absence of cellular atypia, of other cellular types and of vascular abnormalities.

  17. Images of liposarcoma using technetium-99m bleomycin and technetium (V)-99m DMSA

    SciTech Connect

    Ohta, H.; Shane, F.I.; Endo, K.; Torizuka, K.; Horiuchi, K.; Yokoyama, A.; Ishii, M.

    1986-12-01

    The effectiveness of Tc-99m bleomycin (BLM) and Tc(V)-99m DMSA are compared with that of Ga-67 citrate, which is currently the most widely used agent. In four patients with lipomatous tumors, the clinical significance of tumor imaging with each of these three agents is discussed and compared. Results indicate that both Tc-99m BLM and Tc(V)-99m DMSA are superior in detecting the extension or localization of liposarcomas.

  18. Lipoma arborescens of the biceps tendon sheath.

    PubMed

    White, Eric A; Omid, Reza; Matcuk, George R; Domzalski, Jerome T; Fedenko, Alexander N; Gottsegen, Christopher J; Forrester, Deborah M; Patel, Dakshesh B

    2013-10-01

    Lipoma arborescens, described as lipomatous infiltration and distention of synovial villi resulting in a frond-like appearance, most frequently affects the suprapatellar recess of the knee. While there have been reports of this entity involving the upper extremity joints, bursa, and tendon sheaths, we present the first reported case of lipoma arborescens isolated to the biceps tendon sheath. We describe imaging and histologic findings with clinical correlation.

  19. Paediatric Primary Pachymeningeal Xanthogranuloma with Scattered Foci Displaying Reticulohistiocytoma-like Features

    PubMed Central

    Salazar, Miguel Fdo.; Estrada Hernández, María del Rocío; Gómez Apo, Erick; Chávez Macías, Laura G.; Rodríguez Álvarez, Carlos Alfonso

    2015-01-01

    We report a unique case of a 4-year-old girl with an intriguing fibrohistiocytic tumour. Magnetic resonance imaging scans showed a dural mass of variegated intensity compressing the left occipital pole and apparently extending toward the superior sagittal sinus. Grossly, the cut surface of the surgical specimen was yellow, pale, and soft with reddish kernel-like crusts. Histologically, the yellow areas resembled cholesterol granulomas with widespread coagulative necrosis, cholesterol clefts, powdery calcification, foreign body-type giant cells, and foamy macrophages, while the scattered red spots contained numerous multinucleated giant cells of foreign-body and Touton types, the former with amphophilic to slightly eosinophilic cytoplasm. Immunoperoxidase reactions confirmed the expression of histiocytic markers and vimentin. As far as we know, no tumour displaying these peculiar morphological features has yet been described. PMID:26081827

  20. Epithelioid sarcoma in FNAB smears.

    PubMed

    Pohar-Marinsek, Z; Zidar, A

    1994-12-01

    FNAB smears of eleven epithelioid sarcomas were reviewed and analysed. Ten cases had a very similar cytomorphologic picture composed predominantly of dissociated epithelioid-like cells with eccentrically placed nuclei. These tumors were clearly malignant but difficult to differentiate morphologically from melanoma, epithelioid leiomiosarcoma, and Schwannoma or adenocarcinoma. One case was composed of spindle cells and was reminiscent of a fibrohistiocytic tumor. Immunocytochemical reactions to vimentin and cytokeratin were performed in six cases on the Papanicolaou stained smears. The reactions to both antigens were positive in all six cases. Ultrastructural characteristics of eight of the tumors are also described. It seems that epithelioid sarcoma has a rather distinct cytomorphologic picture. Taking into consideration clinical data and using also immunocytochemistry, a definitive diagnosis of epithelioid sarcoma can probably be given from FNAB smears.

  1. Rippled Pattern Extraocular Sebaceous Carcinoma: A Rare Case Report with Brief Review of Literature

    PubMed Central

    K., Amita; S., Vijayshankar; S.N., Shobha

    2013-01-01

    Sebaceous carcinoma (SC) is a highly aggressive malignant adnexal tumor of sebaceous gland origin, accounting for less than 1% of cutaneous. Extraocular sebaceous carcinomas are more aggressive than their ocular counterpart with a predilection for the skin of head and neck, trunk, salivary glands and extremities in decreasing order of frequency. Rippled effect literally means “gradually spreading effect”. In histopathology it describes the unique arrangement of tumor cells in palisading pattern. The tumors in which rippled effect has been reported include adnexal tumors like trichoblastoma, trichomatricoma, trichoblastoma with sebaceous differentiation, trichoblastoma with apocrine differentiation, sebaceoma, basal cell carcinoma, fibrohistiocytic tumors, mesenchymal tumors and melanocytic tumors. We report the first case of extra ocular sebaceous carcinoma with rippled effect with emphasis on the fact that differentiation from other tumors demonstrating rippled effect is important in view of different treatment protocols. PMID:24298500

  2. Primary intracerebral angiomatoid fibrous histiocytoma: report of a case with a t(12;22)(q13;q12) causing type 1 fusion of the EWS and ATF-1 genes.

    PubMed

    Dunham, Christopher; Hussong, Jerry; Seiff, Michael; Pfeifer, John; Perry, Arie

    2008-03-01

    Angiomatoid fibrous histiocytoma (AFH) is generally considered a soft tissue sarcoma of low malignant potential that occurs in children/young adults and most frequently affects the extremities. AFH infrequently recurs and rarely metastasizes. AFH has a characteristic histomorphology, and immunohistochemical reactivities for desmin and CD68 have led to myofibroblastic and fibrohistiocytic histogenetic hypotheses, respectively. Although only a limited number of AFH cases have been molecularly characterized, many have demonstrated evidence of an underlying translocation event. Reverse transcription-polymerase chain reaction and fluorescence in situ hybridization studies suggest that chromosomal rearrangement in AFH most frequently involve the EWS, CREB, ATF-1, and FUS genes. We report the first pathologically confirmed case of an AFH presenting as an intracerebral primary in a previously healthy 25-year-old man. Genetic analyses revealed a t(12;22)(q13;q12) and a unique underlying clear cell sarcomalike type 1 EWS/ATF-1 gene fusion.

  3. Lipoma with dumb-bell extradural extension through the intervertebral foramen into the spinal canal. Case report.

    PubMed

    Park, Jin Soo; Shirachi, Isao; Sato, Kimiaki; Ando, Noriyuki; Nagata, Kensei

    2005-01-01

    The authors present the case of a 60-year-old woman with a neck lipoma that developed dumb-bell extradural extension, causing radiculopathy. To the best of the authors' knowledge, this is the first report of a lipoma originating in the neck with dumb-bell extradural extension through the intervertebral foramen and into the spinal canal. The lipoma was first excised from the foramen via a posterior approach to allow decompression of the nerve roots. The remaining lipomatous tissue was then resected via an anterior approach to avoid the region around the vertebral artery.

  4. Peripheral nerve lipoma: Case report of an intraneural lipoma of the median nerve and literature review

    PubMed Central

    Teles, Alisson Roberto; Finger, Guilherme; Schuster, Marcelo N.; Gobbato, Pedro Luis

    2016-01-01

    Adipose lesions rarely affect the peripheral nerves. This can occur in two different ways: Direct compression by an extraneural lipoma, or by a lipoma originated from the adipose cells located inside the nerve. Since its first description, many terms have been used in the literature to mention intraneural lipomatous lesions. In this article, the authors report a case of a 62-year-old female who presented with an intraneural median nerve lipoma and review the literature concerning the classification of adipose lesions of the nerve, radiological diagnosis and treatment. PMID:27695575

  5. [Intermuscular and intramuscular lipomas of the neck].

    PubMed

    Giacomelli, L; Miglietta, A M; Pulcini, A; Granai, A; Fabrizio, G; Manno, A; Messinetti, S

    1992-01-01

    Two cases of deep lipomas of the neck developed between the skeletal muscles were presented: one intermuscular and the other intramuscular. Taking into consideration the rarity of the case, the authors examined the clinical surgical aspect, paying special attention to the relationship between sonographic and computerized tomographic characteristics and the histological aspects in order to define whether the lipomatous tumors were benign or malignant. They also studied the localization of cervical lipomas, of lipoblastomas of hibernomas and of liposarcomas and defined an anatomo-clinical classification of both superficial and deep cervical lipomas.

  6. Congenital infiltrating lipomatosis of the face with exophytic temporomandibular joint ankylosis: a case report and review of the literature.

    PubMed

    Sahai, S; Rajan, S; Singh, N; Arora, H

    2013-01-01

    Congenital infiltrating lipomatosis of the face (CIL-F) is a rare lipomatous lesion with diffuse fatty infiltration of tissues and hyperplasia of underlying bone. We report clinical and CT findings in an unusual case of CIL-F presenting with progressive hemifacial asymmetry, manifesting as severely restricted mouth opening owing to exophytic temporomandibular joint ankylosis. The role of imaging in diagnosis is presented with a review of the literature. Differential diagnosis of CIL-F and its exclusion as a cause of hemifacial hyperplasia are also discussed.

  7. Right atrial aneurysm with downward displacement of the anterior leaflet that resembled Ebstein's anomaly.

    PubMed

    Yamauchi, Sanae; Suzuki, Yasuyuki; Daitoku, Kazuyuki; Kimura, Masaomi; Okumura, Ken; Fukuda, Ikuo

    2016-06-08

    A 13-year-old boy presented with right atrial aneurysm and downward displacement of the anterior leaflet in the tricuspid valve into the right ventricle, without tricuspid valve regurgitation. Paroxysmal atrial flutter was caused by an abnormal electrical re-entry circuit, which could not be treated using catheter radiofrequency ablation. Therefore, the patient underwent surgical ablation and resection of the enlarged right atrial wall. The anterior leaflet of the tricuspid valve was plastered and displaced downward into the right ventricle, which resembled Ebstein's anomaly. Pathological evaluation revealed a thin wall that contained fibrous tissue with lipomatous degeneration and few muscular elements. No postoperative arrhythmia was observed.

  8. Encephalocraniocutaneous lipomatosis (Haberland syndrome): A rare case report

    PubMed Central

    Jagati, Ashish; Shah, Bela J.; Joshi, Rima; Gajjar, Trusha

    2016-01-01

    Haberland syndrome or Fishman syndrome also known as encephalocraniocutaneous lipomatosis (ECCL) is a rare, congenital neurocutaneous disorder. It is characterized by unilateral involvement of skin, eyes and central nervous system. We report the case of a 28-year-old woman who presented with soft lipomatous swelling over right temporal area with nonscarring alopecia of part of frontal and parietal region. The patient had a history of seizures and ipsilateral scleral dermoid. Computed tomography scan findings were suggestive of lipomas and calcification of falx. Magnetic resonance imaging showed right-sided hemi atrophy and two intracranial cysts. We report this case because of its rarity. PMID:27990391

  9. Ocular surface tumors

    PubMed Central

    Othman, Ihab Saad

    2009-01-01

    Tumors of the conjunctiva and cornea comprise a large and varied spectrum of conditions. These tumors are grouped into two major categories of congenital and acquired lesions. The acquired lesions are further subdivided based on origin of the mass into surface epithelial, mucoepidermoid, melanocytic, vascular, fibrous, neural, histiocytic, myxoid, myogenic, lipomatous, lymphoid, leukemic, metastatic and secondary tumors. Ocular surface tumors include a variety of neoplasms originating from squamous epithelium, melanocytic tumors and lymphocytic resident cells of the conjunctival stroma. In this review, we highlight clinical features of these lesions, important diagnostic and investigative tools and standard care of management. PMID:21234217

  10. Functionally convergent white adipogenic progenitors of different lineages participate in a diffused system supporting tissue regeneration.

    PubMed

    Lemos, Dario R; Paylor, Benjamin; Chang, Chihkai; Sampaio, Arthur; Underhill, T Michael; Rossi, Fabio M V

    2012-06-01

    Pathologies characterized by lipomatous infiltration of craniofacial structures as well as certain forms of lipodystrophies suggest the existence of a distinct adipogenic program in the cephalic region of mammals. Using lineage tracing, we studied the origin of craniofacial adipocytes that accumulate both in cranial fat depots and during ectopic lipomatous infiltration of craniofacial muscles. We found that unlike their counterparts in limb muscle, a significant percentage of cranial adipocytes is derived from the neural crest (NC). In addition, we identified a population of NC-derived Lin(-)/α7(-)/CD34(+)/Sca-1(+) fibro/adipogenic progenitors (NC-FAPs) that resides exclusively in the mesenchyme of cephalic fat and muscle. Comparative analysis of the adipogenic potential, impact on metabolism, and contribution to the regenerative response of NC-FAPs and mesoderm-derived FAPs (M-FAPs) suggests that these cells are functionally indistinguishable. While both NC- and M-FAPs express mesenchymal markers and promyogenic cytokines upon damage-induced activation, NC-FAPs additionally express components of the NC developmental program. Furthermore, we show that craniofacial FAP composition changes with age, with young mice containing FAPs that are almost exclusively of NC origin, while NC-FAPs are progressively replaced by M-FAPs as mice age. Based on these results, we propose that in the adult, ontogenetically distinct FAPs form a diffused system reminiscent of the endothelium, which can originate from multiple developmental intermediates to seed all anatomical locations.

  11. Adrenal incidentaloma in thalassemia: a case report and literature review.

    PubMed

    Gamberini, Maria Rita; Prandini, Napoleone; Chiodi, Elisabetta; Farneti, Carlotta; Garani, Maria Chiara

    2011-03-01

    In the last 30 years the development and widespread use of modern imaging techniques has caused a 20-time increase in the diagnosis of adrenal incidentaloma (AI). Among AIs myelolipoma (ML) is reported with a frequency up to 10%. In the literature 8 patients with adrenal masses in thalassaemia or chronic haemolytic anaemia have been reported: five cases were shown to have extramedullary haematopoiesis (EH) and 3 ML. We describe here a case of an adult male affected by beta thalassaemia intermedia and large bilateral lipomatous adrenal masses. The patient was referred to our ward at the age of 55 and underwent hormonal testing, MRI, and SPECT/CT scans. Adrenal masses were hormonally inactive, and fat-containing on MRI and CT scans. SPECT/CT examination with 99mTccolloid demonstrated the presence of marrow tissue. ML and EH are the only two tumours with marrow tissue among lipomatous adrenal masses. In our patient a brown nodular mass was resected and histologically classified as ML. In benign adrenal masses, radiological follow-up is indicated; in case of large bilateral masses adrenal function tests are suggested periodically in order to detect possible adrenal hypofunction.

  12. Intra-articular knee mass in a 51-year-old woman.

    PubMed

    Bergin, Patrick F; Milchteim, Charles; Beaulieu, Gregory P; Brindle, Kathleen A; Schwartz, Arnold M; Faulks, Craig R

    2011-03-11

    A 51-year-old woman presented with moderate knee pain refractory to conservative measures. Radiographs revealed a well-defined, but irregularly-shaped ovoid soft tissue density at the posterior superior aspect of the infrapatellar fat pad of Hoffa. On magnetic resonance imaging, the mass was mildly heterogeneous and had intermediate signal in the proton density series and mixed signal intensity on the T2-weighted images. A low-signal rim could be seen around a portion of the lesion. Arthroscopic resection was performed and a vascular stalk was encountered. The differential diagnosis included: ganglion cyst, meniscal cyst, intra-articular lipoma, villous proliferation of the synovial membrane, Hoffa disease, and intracapsular chondroma. Histologic examination revealed a fibrous capsule partially surrounding a benign lipomatous neoplasm containing an abundance of thin- and thick-walled blood vessels with periadventitial myxoid stroma. To our knowledge, this is the first reported case of an intra-articular angiomyxolipoma in the literature. At 8-month follow-up, the patient was asymptomatic with no sign of recurrence. We postulate a low recurrence rate based on the insidious growth rate and benign histological appearance of such lesions. To our knowledge, no other intra-articular lipomatous lesion of the knee has been removed solely with arthroscopic techniques. Further follow-up information is needed to better understand the natural course of these lesions.

  13. Symmetric Lipomatosis Arising in the Tongue Presenting as Macroglossia and Articulatory Disorder

    PubMed Central

    Omura, Ken; Satsukawa, Arata; Taguchi, Takahide; Harada, Hiroyuki; Ishii, Yoshimasa

    2016-01-01

    Symmetric lipomatosis is definitively characterized by symmetric, tumorous lipomatous proliferation of adipose tissue that often develops in the head and neck, shoulders, and upper trunk. However, in the oral region, symmetric lipomatosis of the tongue (SLT) is an extremely rare condition related to generalized lipidosis that is often caused by chronic alcoholism. It is characterized by multiple symmetric lipomatous nodules and diffuse bilateral swelling located within the tongue. We report an extremely rare case of SLT arising in an 80-year-old man with a long history of alcoholic liver cirrhosis. He exhibited multiple soft nodular protrusions on the bilateral margin of the tongue presenting as macroglossia for years. Although MR imaging showed multiple fatty masses on both sides of the tongue, there was no elevated tumor mass on the bilateral margin. The patient underwent bilateral partial glossectomy under general anesthesia. Histopathologically, the resected tumor exhibited diffuse infiltration with mature adipose tissue lacking a fibrous capsule. Due to the lipidosis and the unusual presentation of multiple lesions, the lesion was ultimately diagnosed as SLT. At present, after surgery, the patient wears a full-denture and is in excellent condition, with no sign of recurrence, improved QOL, and recovery of masticatory, articulatory, and speech intelligibility functions. PMID:27413566

  14. Auditory Hallucinosis as a Presenting Feature of Interpeduncular Lipoma with Proximal P1 Segment Fenestration: Report of a Rare Case and Review of Literature on Peduncular Hallucinosis

    PubMed Central

    Kulhari, Ashish; Manjila, Sunil; Singh, Gagandeep; Kumar, Kunal; Tarr, Robert W; Bambakidis, Nicholas

    2016-01-01

    The authors present a unique case of intracranial lipoma in the interpeduncular cistern associated with proximal P1 segment fenestration. This patient is a 20-year-old male with extensive psychiatric history and complaints of recent auditory hallucinations. Cranial magnetic resonance imaging (MRI) (T1, T2, and FLAIR) showed a hyperintense lesion in the left aspect of interpeduncular cistern with a prominent flow void within the hyperintense lesion suggestive of a combined vascular–lipomatous lesion. Computed tomography (CT) angiography showed a high-riding large tortuous P1 segment on the left side with proximal fenestration, the ectatic posteromedial limb harboring a fusiform dilated segment. Since there are anecdotal cases of cerebral aneurysms associated with intracranial lipomas, a conventional angiography was done, which confirmed a proximal left P1 fenestration and a fusiform-dilated segment, and no aneurysm. There are few cases of hallucinations associated with a vascular midbrain pathology reported in literature, but hallucinations associated with a combination of lipoma and arterial ectasia have never been reported. This article not only demonstrates the MRI and angiographic appearance of this rare lipomatous lesion but also highlights this unique association and significance of auditory hallucinations as a clinical presentation, akin to peduncular hallucinosis. PMID:27403217

  15. High-pressure paint-gun injury of the finger simulating giant cell tumor of tendon sheath.

    PubMed

    Stefanato, Catherine M; Turner, Matthew S; Bhawan, Jag

    2005-02-01

    High-pressure paint guns deliver paint at approximately 3000 pounds per square inch. At this pressure, paint will penetrate the skin and spread quickly through fascial planes and tendon sheaths. The present case is that of a lesion from the finger of a 35-year-old white male in whom a history was initially unavailable. Histologic examination revealed diffuse fibrohistiocytic proliferation and giant cells, with numerous darkly pigmented, uniformly small-sized particles throughout the lesion. The initial impression was that of a giant cell tumor of tendon sheath. However, the pigment particles were negative for Perls stain, and polariscopic examination revealed clear refractile fragments. These findings raised the possibility that the lesion was the result of a traumatic event. On further inquiry, it was revealed that the patient had sustained a high-pressure paint-gun injury 1 year earlier. The simulation, histopathologically, of a giant cell tumor of tendon sheath by a high-pressure paint-gun injury has not, to our knowledge, been reported previously, nor has the histologic finding of small, uniformly sized pigment particles and polarizable refractile fragments in this particular type of injury.

  16. Utilization and utility of immunohistochemistry in dermatopathology.

    PubMed

    Naert, Karen A; Trotter, Martin J

    2013-02-01

    Immunohistochemistry (IHC) is considered a valuable ancillary tool for dermatopathology diagnosis, but few studies have measured IHC utilization by dermatopathologists or assessed its diagnostic utility. In a regionalized, community-based dermatopathology practice, we measured IHC utilization (total requests, specific antibodies requested, and final diagnosis) over a 12-month period. Next, we assessed diagnostic utility by comparing a preliminary "pre-IHC" diagnosis based on routine histochemical staining with the final diagnosis rendered after consideration of IHC results. The dermatopathology IHC utilization rate was 1.2%, averaging 3.6 stains requested per case. Melanocytic, hematolymphoid, and fibrohistiocytic lesions made up 23%, 18%, and 16%, respectively, of the total cases requiring IHC. S100 and Melan A were the most frequently requested stains, ordered on 50% and 34% of IHC cases, respectively. The utility study revealed that IHC changed the diagnosis in 11%, confirmed a diagnosis, or excluded a differential diagnosis in 77%, and was noncontributory in 4% of cases. Where IHC results prompted a change in diagnosis, 14% were a change from a benign to malignant lesion, whereas 32% changed from one malignant entity to another. IHC is most commonly used in cutaneous melanocytic and hematolymphoid lesions. In 11% of dermatopathology cases in which IHC is used, information is provided that changes the H&E diagnosis. Such changes may have significant treatment implications. IHC is noncontributory in only a small percentage of cases.

  17. The pathogenesis of experimentally induced amebic liver abscess in the gerbil (Meriones unguiculatus).

    PubMed Central

    Chadee, K.; Meerovitch, E.

    1984-01-01

    Sequential development and pathology of experimentally induced amebic liver abscess in the gerbil (Meriones unguiculatus) were studied from 1 to 60 days after inoculation. Early lesions were characterized by an acute inflammatory response, which became granulomatous at 5 days. Early granulomas were discrete, with well-defined fibrohistiocytic walls. Trophozoite dissemination as a result of fibrolysis of granuloma wall was confined to the liver parenchyma. The granulomatous cellular infiltrate (less than 20 days) was characterized by granulocytes and histiocytes; older granulomas (greater than 30 days) were composed of lymphocytic infiltrate, plasma cells, and a few granulocytes, and were characterized by the absence of epithelioid histiocytes. The degree of pathologic change adjacent to liver granulomas followed the sequential development of the amebic liver abscess. Severe changes observed were portal canal lymphocytic infiltration, the presence of foreign body giant cells, periportal fibrosis, proliferation of bile duct epithelium, and hepatocyte anisonucleosis and ballooning degeneration. The pathogenesis of the infection and the usefulness of the gerbil model for the study of human amebiasis are discussed. Images Figure 1 Figure 2 Figure 3 Figure 4 Figure 5 Figure 6 Figure 7 Figure 8 Figure 9 Figure 10 Figure 11 Figure 12 Figure 13 Figure 14 Figure 15 Figure 16 Figure 17 Figure 18 PMID:6385727

  18. Tenosynovial giant cell tumour (pigmented villonodular synovitis-)-like changes in periprosthetic interface membranes.

    PubMed

    Söder, Stephan; Sesselmann, Stefan; Aigner, Thomas; Oehler, Stephan; Agaimy, Abbas

    2016-02-01

    Tenosynovial giant cell tumour (TSGCT; synonym, pigmented villonodular synovitis (PVNS)) is a rare low-grade mesenchymal neoplasm of either intra-articular or extra-articular origin. The etiopathogenesis of TSGCT is still uncertain, but recent studies showed a translocation involving colony-stimulating factor 1 (CSF-1) gene in a subset of cases. Histological features mimicking TSGCT can sometimes be encountered in periprosthetic interface membranes. To investigate the frequency and morphologic spectrum of this phenomenon, we conducted a systematic analysis of 477 periprosthetic interface membranes and performed immunohistochemical analysis on a subset of lesions compared to genuine TSGCT. In 26 of 477 periprosthetic membrane samples (5 %), at least some TSGCT-like features were found and 18 cases (4 %) strongly resembled it. Wear particles were detected in 100 % of the TSGCT-like lesions but only in 63.3 % of the whole cohort of periprosthetic membranes (p value <0.001). Immunohistochemistry comparing true TSGCT and TSGCT-like membranes showed similar inflammatory infiltrates with slightly elevated CD3+/CD8+ T lymphocytes and a slightly higher proliferation index in TSGCT samples. In conclusion, TSGCT-like changes in periprosthetic membranes likely represent exuberant fibrohistiocytic inflammatory response induced by wear particles and should be distinguished from genuine (neoplastic) TSGCT. Although TSGCT and TSGCT-like periprosthetic membranes represent different entities, their comparable morphology might reflect analogous morphogenesis.

  19. Expression of nerve growth factor receptor in paraffin-embedded soft tissue tumors.

    PubMed Central

    Perosio, P. M.; Brooks, J. J.

    1988-01-01

    Identification of growth factors and receptors in mesenchymal tumors may be crucial to understanding of growth regulation in sarcomas. During an immunohistochemical study of the expression of growth factors and receptors in human soft tissue tumors (STT), only 1 antisera capable of working in paraffin-embedded tissue was noted. A detailed study of 141 STT was undertaken to determine the frequency of expression of nerve growth factor receptor (NGF-R), its specificity and sensitivity for neural tumors, and the effect of fixation on detection. In normal mesenchymal tissue, only nerve sheath and perivascular staining was seen. No immunoreactivity was seen in many tumors including rhabdomyosarcoma, angiosarcoma, liposarcoma, Ewing's sarcoma, and alveolar soft part sarcoma. Less than 15% of tumors of smooth muscle, fibrous, or fibrohistiocytic origin showed immunoreactivity, usually focal. In contrast, a high frequency of immunoreactivity was noted in tumors of neural origin (74%). This included granular cell tumors (100%), Schwannoma/neurofibroma (91%), malignant Schwannoma (78%), neuroblastoma/neuroepithelioma (60%), and paraganglioma (57%). A high rate of reactivity was also seen in synovial sarcomas (80%), undifferentiated sarcomas (60%), and hemangiopericytomas (43%), suggesting a potential relationship to the neural phenotype. Among the neural tumors, Bouin's fixation was superior to formalin, suggesting that immunoreactivity for NGF-R is affected by fixation. This antibody may be a useful adjunct marker diagnostically. Images Figure 1 Figure 2 Figure 4 Figure 5 Figure 6 Figure 7 Figure 9 Figure 10 PMID:2456020

  20. A symptomatic Sylvian fissure lipoma in a post-traumatic patient

    PubMed Central

    Bokhari, Rakan Farouk; Bangash, Mohammad Hasan; Ahamed, Naushad Ali Basheer; Addas, Jameel

    2014-01-01

    Lipomatous extra-axial lesions in the Sylvian fissure are a rare entity. Their identification, however, is usually simple if a systematic radiological approach is adopted. The best line of management for these lesions is still a matter of controversy and fraught with complications. We present a case of a Sylvian fissure lipoma referred to our neurosurgery services with symptomatic seizures and in a post-traumatic patient. The radiological differentiating features of intracranial lipomas and intracranial dermoids have been discussed. The unusual location of the lesion, in combination with the history of seizures and the nature of presentation (trauma being a red-herring) make this case an interesting find. The lesion was managed conservatively with good outcomes at follow up, on anti-epileptic medications. PMID:24967029

  1. Duodenal Lipomatosis as a Curious Cause of Upper Gastrointestinal Bleed: A Report with Review of Literature

    PubMed Central

    Wani, Majid; Tiwari, Priyanka; Ramaswamy, Palaniswamy Kalipatti; Kumar, Reddy Prasanna

    2016-01-01

    Lipomas of the gastrointestinal tract are rare. Duodenal lipomas are incidental and mostly asymptomatic. Tumours may produce symptoms of abdominal pain and discomfort or cause bleeding due to ulceration or intestinal obstruction due to intussusception. We describe a 45-year-old man presenting in emergency with 3 days history of melena with normal gastroduodenoscopy and contrast enhanced computed tomography revealing multiple polypoid lesion in duodenum and proximal jejunum suggestive of lipoma. Due to ongoing bleed, he underwent laparotomy with duodenectomy and uneventful postoperative recovery. Our review of cases published in last 67 years indicate that duodenal lipomas are rare to occur but commonly found in second part, they may be seen in third and fourth part of duodenum which may be missed on endoscopy. They can be multiple and may present as severe UGI bleeding which could be managed surgically. Though CT is diagnostic, histopathology confirms the diagnosis which shows lipomatous lesion composed of mature adipose arranged in lobules. PMID:27437304

  2. [Pharyngeal fibrovascular polyp].

    PubMed

    Dali, Hayet; Barry, Beatrix; Wassef, Michel; Mansouri, Dhouha; Hourseau, Muriel; Hénin, Dominique; Soufan, Ranya

    2011-06-01

    The giant fibrovascular polyp of the hypopharynx is a rare and benign tumor. We report one case in a 46-year-old man. This lesion, usually unique, affects predominantly men with an average age of 53 years. These polyps are located predominantly in the upper esophagus and rarely in the hypopharynx. They are usually asymptomatic and small, detected by endoscopy. They can grow to considerable length and cause digestive or respiratory symptoms. Histologically, fibrovascular polyps consist of a various mixture of fibrous and lipomatous elements with abundant vascularisation and they are covered by normal squamous epithelium. The lack of muscular support and the pressure difference in the peristaltic wave contribute to polyp formation.

  3. [Recurrence of Well Differentiated Intrascrotal Liposarcoma in Retroperitoneum Five Years after Resection : A Case Report].

    PubMed

    Yoshinaga, Mitsuhiro; Sekii, Yosuke; Nakazawa, Shigeaki; Nakagawa, Masahiro; Kishikawa, Hidefumi; Nishimura, Kenji

    2017-01-01

    A 68-year-old man underwent an inguinal orchiectomy for a right testicular tumor and the pathological diagnosis was atypical lipomatous tumor. Nine years later, a resection procedure was performed for local recurrence. Five years after that second surgery, abdominal computed tomography (CT) findings revealed a low density mass 40 mm in size on the back side of the right kidney and enlarged fat in the retroperitoneal space. We performed a laparoscopic tumor resection under a diagnosis of lipoma or liposarcoma recurrence, and the pathological diagnosis was well differentiated liposarcoma. Treatment with pazopanib was started, as a CT examination showed that the tumor remained, after which we performed an open nephroureterectomy and resected the remaining tumor portion. Pazopanib treatment was continued and no obvious signs of recurrence were seen at 8 months after the most recent surgery. Although well differentiated liposarcoma usually recurs in the original tumor region, multicentric recurrence in other parts is possible.

  4. Infiltrating intramuscular spindle cell lipoma of the face.

    PubMed

    Mandal, Rajni V; Duncan, Lyn M; Austen, William G; Nielsen, G Petur

    2009-10-01

    Spindle cell lipoma is a benign lipomatous tumor, which usually arises on the back of the neck, shoulder or upper back of males in the third to seventh decade of life. We report herein an unusual infiltrating intramuscular spindle cell lipoma arising in the nose of a 53-year-old man. The patient presented with a 0.5-cm 'cyst' of the nose, just above the right alar crease, which was removed. Four years later, the lesion recurred and was re-excised. Histologically, a proliferation of mature adipocytes, ropey collagen fibers and spindle cells within a myxoid stroma was present in the subcutaneous tissue and infiltrated between skeletal muscle fibers. Nine cases of intramuscular spindle cell lipoma with histological examination have previously been reported and have involved the oral cavity and muscles of the extremities. To our knowledge, this is the first report of an infiltrating intramuscular spindle cell lipoma arising on the face.

  5. Role of adipose tissue in the pathogenesis of cardiac arrhythmias.

    PubMed

    Samanta, Rahul; Pouliopoulos, Jim; Thiagalingam, Aravinda; Kovoor, Pramesh

    2016-01-01

    Epicardial adipose tissue is present in normal healthy individuals. It is a unique fat depot that, under physiologic conditions, plays a cardioprotective role. However, excess epicardial adipose tissue has been shown to be associated with prevalence and severity of atrial fibrillation. In arrhythmogenic right ventricular cardiomyopathy and myotonic dystrophy, fibrofatty infiltration of the myocardium is associated with ventricular arrhythmias. In the ovine model of ischemic cardiomyopathy, the presence of intramyocardial adipose or lipomatous metaplasia has been associated with increased propensity to ventricular tachycardia. These observations suggest a role of adipose tissue in the pathogenesis of cardiac arrhythmias. In this article, we review the role of cardiac adipose tissue in various cardiac arrhythmias and discuss the possible pathophysiologic mechanisms.

  6. Parapharyngeal space lipomatosis with secondary dyspnea, disphagia and disphonia

    PubMed Central

    Garcia-Ortega, Dorian Yarih; Gomez-Pedraza, Antonio; Luna-Ortiz, Kuauhyama

    2015-01-01

    Introduction Parapharyngeal space tumors are a small percentage of all head and neck neoplasms. Due to their anatomic location, they represent a therapeutic challenge. To our knowledge, 11 cases of parapharyngeal lipomatous tumors have been reported in the literature. Case A 48 year old male with chief complaints of dyspnea, dysphagia and dysphonia was found to have a parapharyngeal space tumor. He was scheduled to undergo lumpectomy and neck exploration. Discussion Benign tumors represented 70% of all cases. Open neck surgery is considered the gold-standard of treatment. Conclusion It is important to bear in mind the lipomas of the parapharyngeal space to establish an accurate diagnosis and implement timely, appropriate treatment in order to avoid future complications and reduce morbidity and mortality. PMID:26318127

  7. Compression of the superior vena cava by an interatrial septal lipoma: a case report.

    PubMed

    Grech, R; Mizzi, A; Grech, S

    2013-01-01

    Primary cardiac tumours are rare; their prevalence ranges from 0.0017% to 0.28% in various autopsy series. Cardiac lipomas are well-encapsulated benign tumours typically composed of mature fat cells, and their reported size ranges from 1 to 15 cm. They are usually seen in the left ventricle and the right atrium. Lipomas are true neoplasms, as opposed to lipomatous hypertrophy of the interatrial septum, which is a nonencapsulated hyperplastic accumulation of mature and foetal adipose tissue. Cardiac lipomas occur in patients of all ages, and the frequency of occurrence has been found to be equal in both sexes. Patients are usually asymptomatic, although the manifestation of symptoms depends upon both size and location of the tumour. We present the case of a patient with an interatrial septal lipoma, causing obstruction of the superior vena cava.

  8. Compression of the Superior Vena Cava by an Interatrial Septal Lipoma: A Case Report

    PubMed Central

    Grech, R.; Mizzi, A.; Grech, S.

    2013-01-01

    Primary cardiac tumours are rare; their prevalence ranges from 0.0017% to 0.28% in various autopsy series. Cardiac lipomas are well-encapsulated benign tumours typically composed of mature fat cells, and their reported size ranges from 1 to 15 cm. They are usually seen in the left ventricle and the right atrium. Lipomas are true neoplasms, as opposed to lipomatous hypertrophy of the interatrial septum, which is a nonencapsulated hyperplastic accumulation of mature and foetal adipose tissue. Cardiac lipomas occur in patients of all ages, and the frequency of occurrence has been found to be equal in both sexes. Patients are usually asymptomatic, although the manifestation of symptoms depends upon both size and location of the tumour. We present the case of a patient with an interatrial septal lipoma, causing obstruction of the superior vena cava. PMID:23984155

  9. Liposarcoma in clownfish, Amphiprion ocellaris Cuvier, produced in indoor aquaculture.

    PubMed

    Sharon, G; Benharroch, D; Kachko, L; Reis-Hevlin, N; Zilberg, D

    2015-06-01

    Clownfish, Amphiprion ocellaris Cuvier, produced and grown in an experimental indoor aquaculture facility, presented with lipomatous tumours. A total of 14 affected fish were examined. Based on the total number of fish at the aquaculture facility at the time of outbreak of this pathology, the scope of the incident is estimated to be 1 of 300 fish. The tumours were characterized by the presence of mature adipocytes of variable sizes, lipoblasts and by an invasive behaviour, which affected internal organs, muscle, central nervous system and, in one case, an eye. Detailed macroscopic and histopathological features are presented. The suggested diagnosis is that of a well-differentiated liposarcoma, a diagnosis so far never applied to fish. The limited outbreak of the neoplasm lasted a few months in 2011 and did not recur. Possible factors leading to this phenomenon, notably the metastasis, are discussed.

  10. Enlarged pancreas: not always a cancer.

    PubMed

    Calculli, Lucia; Festi, Davide; Pezzilli, Raffaele

    2015-02-01

    Pancreatic fat accumulation has been described with various terms including pancreatic lipomatosis, pancreatic steatosis, fatty replacement, fatty infiltration, fatty pancreas, lipomatous pseudohypertrophy and nonalcoholic fatty pancreas disease. It has been reported to be associated with type 2 diabetes mellitus, acute pancreatitis, pancreatic cancer and the formation of pancreatic fistula. The real incidence of this condition is still unknown. We report a case of pancreatic steatosis in a non-obese female patient initially diagnosed with a mass in the head of the pancreas. Magnetic resonance imaging (MRI) was carried out to define the characteristics of the pancreatic mass. MRI confirmed the diagnosis of fat pancreas. Enlarged pancreas is not always a cancer, but pancreatic steatosis is characterized by pancreatic enlargement. MRI could give a definite diagnosis of pancreatic steatosis or cancer.

  11. Sialolipoma of the parotid gland: a rare entity.

    PubMed

    Pandey, Diwakar; Vats, Manu; Akhtar, Azaz; Pathania, Om Prakash

    2015-06-16

    Lipomatous neoplasms of the parotid gland are rare tumours contributing from 0.6% to 4.4% to all parotid neoplasms with most series reporting an incidence of 1%. It is extremely rare in females, being 10 times more common in males, and the most common age of presentation is the five to sixth decade. Numerous histological variants of salivary gland lipoma have been described. Sialolipoma is a rare variant having proliferation of mature adipocytes with secondary entrapment of the normal salivary gland element. We report a rare case of sialolipoma in the right parotid of a 45-year-old woman who was treated with superficial parotidectomy. Postoperative recovery as well as follow-up has been uneventful.

  12. Large benign submucosal lipoma presented with descending colonic intussusception in an adult

    PubMed Central

    Allos, Ziad; Zhubandykova, Dina

    2013-01-01

    Patient: Female, 34 Final Diagnosis: Lipoma of the large intestine Symptoms: Abdominal pain • bloating • blood in stool • constipation • lose of appetite • nausea Medication: — Clinical Procedure: — Specialty: Surgery Objective: Rare disease Background: Lipoma of the large intestine is rare, account for only 5% of all gastrointestinal tumors. Lipomas are usually asymptomatic but rarely may cause bleeding, obstruction and intussusception. We present a case of a giant colonic lipoma causing descending-colonic intussusception. Case Report: 34 yo F presented with the intermittent left lower quadrant abdominal pain for 3 weeks. The pain initially was associated with bloating and constipation and for the last several days frank blood in stool, nausea and decreased appetite. CT scan of the abdomen revealed descending colonic obstruction by a 5.3 cm colonic lipomatous mass with resultant intussusception. Patient initially underwent colonoscopy that revealed polypoid lesion at 3–40 similar to lipoma with intussusception that was reduced. Patient subsequently underwent laparoscopic segmental left colectomy for the descending colonic intussusception due to large colonic lipomatous mass. Pathology confirmed the histology of lipoma. Conclusions: Adult bowel intussusception is a rare but challenging condition to diagnose in a timely manner. Preoperative diagnosis is usually missed or delayed because of nonspecific and often subacute symptoms. Lipoma is a rare cause of the intussusception. A high index of suspicion and appropriate investigations (abdominal ultrasound, CT scan and colonoscopy) can result in prompt diagnosis. Lipoma of the large intestine is very rare. Submucosal lipomas are usually asymptomatic but may cause bleeding, obstruction, intussusception, or abdominal pain. Accurate preoperative diagnosis is difficult and lipoma is often mistaken for adenomatous polyp or carcinoma. Treatment usually requires formal resection of the involved bowel segment

  13. Histopathology of N-methyl-N-nitrosourea-induced mesenchymal tumours of the rat urinary bladder.

    PubMed Central

    Kunze, E.; Ruschitzka, F.; Schwalbe, K.

    1990-01-01

    The present study reports the induction, histopathology, immunocytochemistry, growth pattern and proliferative behaviour of mesenchymal tumours of the urinary bladder of rats induced by a single intravesical dose (5 mg/kg/body weight) of N-methyl-N-nitrosourea (MNU). In 14 of 283 female Wistar rats (incidence: 4.9%). 16 non-epithelial tumours had developed after an experimental period of 14 months. The most common histological type induced was of fibrohistiocytic origin (eight benign-appearing and three malignant fibrous histiocytomas). Furthermore, two pure histiocytomas (one benign and one malignant) and three capillary and cavernous haemangiomas were produced. Since no metastases occurred and no clear-cut distinction between a merely expansive and a truly invasive growth was possible, the diagnosis of malignancy was based on the degree of cellular atypia and the mitotic activity. The benign-appearing fibrous histiocytomas showed a mean mitotic index of 0.06% and the malignant fibrous histiocytomas of 0.34%. The mitotic activity of the malignant histiocytoma was threefold (0.78%) as high as in the benign-appearing histiocytoma (0.25%). There exist close morphological similarities between the induced mesenchymal tumours in the rat and those occurring in the human bladder. Although the spectrum of histological types of mesenchymal tumours seen in the rat bladder was narrower than that encountered in man, MNU seems suitable for further studying the histogenesis, histopathology and biology of experimentally induced non-epithelial bladder neoplasms to gain information for a better understanding of the pathogenesis of human disease. Images Fig. 1 Fig. 2 Fig. 3 Fig. 4 Fig. 5 Fig. 6 Fig. 7 Fig. 8 Fig. 9 Fig. 10 Fig. 11 Fig. 12 Fig. 13 Fig. 14 Fig. 15 Fig. 16 Fig. 17 Fig. 18 Fig. 19 PMID:2164825

  14. Giant cell rich osteosarcoma revisited-diagnostic criteria and histopathologic patterns, Ki67, CDK4, and MDM2 expression, changes in response to bisphosphonate and denosumab treatment.

    PubMed

    Chow, Louis Tsun Cheung

    2016-06-01

    Defining giant cell-rich osteosarcoma (GCRO) as "an osteosarcoma in which more than 50% of the tumor consists of numerous uniformly distributed osteoclastic giant cells amidst oval or spindle mononuclear cells embedded in a fibrovascular stroma," eight such cases identified among 265 cases of osteosarcoma were analysed. Their age ranges from 11 to 33 years, with peak incidence in the second decade and equal sex distribution. Seventy-five percent presented with pain, commonest in the knee, affecting the metaphysis. Most appeared radiologically as well-circumscribed expansile multiloculated osteolytic lesions, and many are displayed periosteal reaction. They showed several distinct histologic patterns: the stromal and giant cell, fibrohistiocytic, aneurysmal-cystic, osteoblastoma-like, and parosteal and fibrous dysplasia-like patterns. Focal subtle lacelike osteoid deposition, permeative infiltration into adjacent native bony trabeculae and over 30 % Ki67 proliferative index were characteristic. There was no CDK4 and MDM2 amplification. In those having bisphosphonate and denosumab treatment, there was limited focal necrosis with reduction in the number of giant cells and broad trabecular woven bone formation but no giant osteoclast was seen. Two patients with initial diagnosis of giant cell tumor treated by curettage and local resection pursued aggressive clinical courses, died after 14 and 21 months. The others survived 12 to 110 months. GCRO accounts for about 3 % of all osteosarcomas and apart from its more frequent diaphyseal location and associated normal bone-specific alkaline phosphate levels; it shares with conventional high-grade osteosarcoma the same patient demographics, sites of occurrence, absence of CDK4 and MDM2 amplification, and probably clinical course.

  15. [A case of paravertebral lumbar meningomyelocele (author's transl)].

    PubMed

    Kishihara, T; Nakagawa, Y; Kaneko, S; Saitoh, H

    1976-11-01

    A case reported here is one year-old girl, who was admitted to our neurosurgical service because of gradually increasing swelling in the left lumbar region, and maldevelopment and paresis of the left leg since birth. From the level of L-2 to S-1, there was a 8 X 7 xm subcutaneous swelling of lipomatous consistency with well-defined margins. Of particular characteristics was that the swelling didn't cross the midline and was entirely located in the left paravertebral region (Fig. 1). In the spine no gap could be felt between the spinous processes. There was no evidence of hydrocephalus, but she bad marked right sided scoliotic deformity of the lumbar region, and dislocation of hip joint and club-foot on the left side. Rectum-bladder-vaginal fistula with defect of anus and hypoplasia of kidney on the left side were also detected. Skiagram of the lumbosacral spine revealed marked right-sided scoliosis at the level of L-1 and hypoplasia of left pedicles, accompanied with marked dilation of transverse diameter of spinal canal between the level of L-1 to S-2. Defect of laminae of lumbosacral spine was not definately determined. Conray myelogram showed presence of cyst protruding laterally to the left paravertebral region probably through defect of lamina on the left side at the level of L-5 (Fig 2). At operation, it was confirmed that meningomyelocele protruded out laterally through the defect of half of lamina at the level of L-5. Massive lipoma was noted inside as well as outside the dura mater. Neural elements were replaced inside the spinal canal and the dura repaired. The postoperative period was uneventful. Diagram of defect of lamina at the level of L-5 and its relationships to the meningomyelocele sac is shown in Fig. 3. Meningocele or meningomyelocele which lays in the paravertebral lumbar region is very rare (Table 2), but the possibility of this disease should always be considered when we examine the patients with lipomatous or cystic swelling in the

  16. Current classification, treatment options, and new perspectives in the management of adipocytic sarcomas

    PubMed Central

    De Vita, Alessandro; Mercatali, Laura; Recine, Federica; Pieri, Federica; Riva, Nada; Bongiovanni, Alberto; Liverani, Chiara; Spadazzi, Chiara; Miserocchi, Giacomo; Amadori, Dino; Ibrahim, Toni

    2016-01-01

    Sarcomas are a heterogeneous group of mesenchymal tumors arising from soft tissue or bone, with an uncertain etiology and difficult classification. Soft tissue sarcomas (STSs) account for around 1% of all adult cancers. Till date, more than 50 histologic subtypes have been identified. Adipocyte sarcoma or liposarcoma (LPS) is one of the most common STS subtypes, accounting for 15% of all sarcomas, with an incidence of 24% of all extremity STSs and 45% of all retroperitoneal STSs. The new World Health Organization classification system has divided LPS into four different subgroups: atypical lipomatous tumor/well-differentiated LPS, dedifferentiated LPS, myxoid LPS, and pleomorphic LPS. These lesions can develop at any location and exhibit different aggressive potentials reflecting their morphologic diversity and clinical behavior. Patients affected by LPS should be managed in specialized multidisciplinary cancer centers. Whereas surgical resection is the mainstay of treatment for localized disease, the benefits of adjuvant and neoadjuvant chemotherapy are still unclear. Systemic treatment, particularly chemotherapy, is still limited in metastatic disease. Despite the efforts toward a better understanding of the biology of LPS, the outcome of advanced and metastatic patients remains poor. The advent of targeted therapies may lead to an improvement of treatment options and clinical outcomes. A larger patient enrollment into translational and clinical studies will help increase the knowledge of the biological behavior of LPSs, test new drugs, and introduce new methodological studies, that is, on treatment response. PMID:27785071

  17. [Mediastinal teratoma with malignant transformation of the somatic component. Clinical report].

    PubMed

    Gerardo, Rita; Morgado, Carolina; Calvo, Dolores; Pinto, Eugénia; Bravio, Ivan; Castelão, Nelson; Martelo, Fernando

    2009-01-01

    Mediastinal germ cell tumours (M-GCT) are rare forms of neoplasms compared with other tumours of the same location. They are classified in seminomas, malignant non-seminomatous GCT and teratomas. The malignant transformation of the somatic component of the teratoma, with sarcomatous or carcinomatous degeneration, is even more uncommon. We report the clinical case of a 32 year old man who presented with severe chest pain on the right hemithorax. The image exams revealed the existence of a large heterogeneous lesion with a diameter of 7.7 cm, with areas of lipomatous density and a calcic image with the appearance of a tooth, in the right projection of the anterior mediastinum, in the vicinity of the large vessels, compatible with teratoma. The transthoracic biopsy (CT guided) showed morphologic aspects of sarcoma. The patient was operated on with the en bloc resection of the mediastinal mass, right lung, a segment of the pericardium and the thymus. The pathological studies showed a teratoma with malignant transformation of the mesenquimatous component, with muscular differentiation into leiomiosarcoma and rabdomiosarcoma. After surgery, the patient was treated with a scheme of doxorubicin and ifosfamide. The most prominent concepts related to this clinical entity, as well as its treatment, are debated in this article, based on the most recent publications dedicated to the subject.

  18. Prenatal Diagnosis of CLOVES Syndrome Confirmed by Detection of a Mosaic PIK3CA Mutation in Cultured Amniocytes

    PubMed Central

    Emrick, Lisa T.; Murphy, Lauren; Shamshirsaz, Alireza A.; Ruano, Rodrigo; Cassady, Christopher I.; Liu, Liu; Chang, Fengqi; Sutton, V. Reid; Li, Marilyn; Van den Veyver, Ignatia B.

    2015-01-01

    Congenital lipomatous asymmetric overgrowth of the trunk, lymphatic, capillary, venous, and combined-type vascular malformations, epidermal nevi, skeletal and spinal anomalies (CLOVES) syndrome, a segmental overgrowth syndrome, is caused by post zygotic somatic mutations in PIK3CA, a gene involved in the receptor tyrosine kinase phosphatidylinositol 3-kinase (PI3)-AKT growth-signaling pathway. Prenatal ultrasound findings of lymphovascular malformations, segmental overgrowth and skeletal defects can raise suspicion for CLOVES syndrome, but molecular confirmation of PIK3CA mutations on prenatally obtained samples is challenging because of somatic mosaicism. We detected a mosaic disease-causing mutation in PIK3CA by sequencing of DNA extracted from cultured amniotic cells, but not from DNA directly prepared from an amniotic fluid sample in a fetus with prenatally suspected CLOVES syndrome. The infant was born prematurely and displayed severe lymphovascular malformations and segmental overgrowth consistent with a clinical diagnosis of CLOVES syndrome; he passed away at 29 days of life. We discuss the complexities and limitations of genetic testing for somatic mosaic mutations in the prenatal period and highlight the potential need for multiple approaches to arrive at a molecular diagnosis. PMID:25044986

  19. An overview on development and application of an experimental platform for quantitative cardiac imaging research in rabbit models of myocardial infarction

    PubMed Central

    Feng, Yuanbo; Bogaert, Jan; Oyen, Raymond

    2014-01-01

    To exploit the advantages of using rabbits for cardiac imaging research and to tackle the technical obstacles, efforts have been made under the framework of a doctoral research program. In this overview article, by cross-referencing the current literature, we summarize how we have developed a preclinical cardiac research platform based on modified models of reperfused myocardial infarction (MI) in rabbits; how the in vivo manifestations of cardiac imaging could be closely matched with those ex vivo macro- and microscopic findings; how these imaging outcomes could be quantitatively analyzed, validated and demonstrated; and how we could apply this cardiac imaging platform to provide possible solutions to certain lingering diagnostic and therapeutic problems in experimental cardiology. In particular, tissue components in acute cardiac ischemia have been stratified and characterized, post-infarct lipomatous metaplasia (LM) as a common but hardly illuminated clinical pathology has been identified in rabbit models, and a necrosis avid tracer as well as an anti-ischemic drug have been successfully assessed for their potential utilities in clinical cardiology. These outcomes may interest the researchers in the related fields and help strengthen translational research in cardiovascular diseases. PMID:25392822

  20. EXPERIMENTAL ATHEROSCLEROSIS AND CARDIAC INFARCTS IN RATS

    PubMed Central

    Wilgram, George F.

    1959-01-01

    Marked obesity was induced in rats by feeding a high fat, egg yolk-rich diet. The obese rats were hyperlipemic and showed an increased incidence of lipomatous coronary lesions, but did not develop severe atheromatous lesions. Spontaneous vascular lesions of several kinds have been observed in aging rats. Among them, plaques containing a fibrin-like material seem to be conspicuous. However, these lesions differ from the experimentally induced changes, which were more fatty. Atherosclerosis, as it is defined in human pathology, has not been observed to develop spontaneously in rats. Experimental induction of marked hyperlipemia and hypercholesterolemia by feeding a high fat egg yolk-rich diet (supplemented with cholesterol, choleate, and thiouracil), and use of viosterol to cause vascular injury, led to severe atherosclerosis, coronary occlusion, and myocardial infarction. A consideration of all the findings reported here leads to renewed support of the concept that atherosclerosis has a combination of causes (Aschoff, Anitschkow, Page). Of all the etiological factors considered here, elevation of blood lipides and vascular injury are thought to be the most important ones. PMID:13620855

  1. The clinical characteristics of benign oral mucosal tumors

    PubMed Central

    Kaplan, Ilana; Gal, Gavriel; Chaushu, Gavriel; Allon, Dror M.

    2014-01-01

    Objectives: To investigate the clinical characteristics and pre-biopsy provisional diagnoses of benign oral mucosal tumors. Material and Methods: A 10- year retrospective analysis of all benign tumors of the oral mucosa, from a university- affiliated oral and maxillofacial surgery department. Results: 146 benign tumors were included. The mean age was 49.6 years, with an approximately equal gender distribution. The most prevalent tumor types were lipomatous tumors (27.4%), vascular (23.3%), and salivary gland tumors (16.5%). Tongue, labial and buccal mucosa were the most frequently involved sites. The vast majority (98.6%) presented as non-ulcerated masses. Only 2 (1.4%) presented as ulcerated masses. The clinical provisional diagnosis correctly classified lesions as non-malignant in 93.3%. In only 9 (6.7%) suspicion of malignancy was included in the provisional diagnosis. However, benign neoplasia was unsuspected in 42.1% of tumors. These cases were clinically classified as reactive. Conclusions: Benign tumors were most likely to be clinically correctly classified as non-malignant, but even in the setting of experienced oral surgeons, neoplasia was unsuspected in more than 40% of cases. This data strongly supports the need to biopsy every oral mucosal mass, since inaccurate clinical evaluation of the lesion’s biological nature was a frequent event. Key words:Malignant, benign, reactive, ulcerated mass, non-ulcerated mass, clinical diagnosis. PMID:24316705

  2. Pancreatic steatosis: Is it related to either obesity or diabetes mellitus?

    PubMed Central

    Pezzilli, Raffaele; Calculli, Lucia

    2014-01-01

    The accumulation of fat in the pancreatic gland has been referred to using various synonyms, such as pancreatic lipomatosis, fatty replacement, fatty infiltration, fatty pancreas, lipomatous pseudohypertrophy, non-alcoholic fatty pancreatic disease and pancreatic steatosis We believe that pancreatic steatosis is the best description of fat accumulation in the pancreatic gland without fat replacement, and this term also describes the possibility that the fat accumulation is a reversible process. A review of the existing literature was carried out, and it was found that there was notable evidence from both the pathological and the imaging point of view that pancreatic steatosis is an increasing problem due to the increasing incidence of obesity. The conclusion was that pancreatic steatosis was easily detectable using modern imaging techniques, such as ultrasonography, endoscopic ultrasonography, computed tomography and magnetic resonance imaging. Pancreatic steatosis was not due to the presence of diabetes mellitus but was highly associated with the metabolic syndrome. The possible presence of steatopancreatitis should be better evaluated, especially regarding the inflammatory cascade, and additional studies are needed which are capable of assessing whether non-alcoholic steatopancreatitis really exists as does non-alcoholic steatohepatitis. Finally, the presence of exocrine pancreatic function should be extensively evaluated in patients with pancreatic steatosis. PMID:25126389

  3. Pancreatic steatosis: Is it related to either obesity or diabetes mellitus?

    PubMed

    Pezzilli, Raffaele; Calculli, Lucia

    2014-08-15

    The accumulation of fat in the pancreatic gland has been referred to using various synonyms, such as pancreatic lipomatosis, fatty replacement, fatty infiltration, fatty pancreas, lipomatous pseudohypertrophy, non-alcoholic fatty pancreatic disease and pancreatic steatosis We believe that pancreatic steatosis is the best description of fat accumulation in the pancreatic gland without fat replacement, and this term also describes the possibility that the fat accumulation is a reversible process. A review of the existing literature was carried out, and it was found that there was notable evidence from both the pathological and the imaging point of view that pancreatic steatosis is an increasing problem due to the increasing incidence of obesity. The conclusion was that pancreatic steatosis was easily detectable using modern imaging techniques, such as ultrasonography, endoscopic ultrasonography, computed tomography and magnetic resonance imaging. Pancreatic steatosis was not due to the presence of diabetes mellitus but was highly associated with the metabolic syndrome. The possible presence of steatopancreatitis should be better evaluated, especially regarding the inflammatory cascade, and additional studies are needed which are capable of assessing whether non-alcoholic steatopancreatitis really exists as does non-alcoholic steatohepatitis. Finally, the presence of exocrine pancreatic function should be extensively evaluated in patients with pancreatic steatosis.

  4. Preduodenal portal vein in adult with polysplenia syndrome revisited with a case report.

    PubMed

    G A, Latha; Kagali, Nagaraj A; M, Shridhar; Prasad, B S Satish

    2014-04-01

    Preduodenal portal vein (PDPV) is a rare developmental anomaly. In infants, this is often associated with duodenal obstruction or biliary atresia. It is generally asymptomatic in adults (Ooshima et al., Hepato-Biliary-Pancreat Surg 5(4):455-458, 1998). Here, we report a singular case of adult PDPV that was discovered accidentally during emergency laparotomy for peritonitis due to gastric perforation in a 38-year-old lady. A plethora of congenital anomalies was uncovered, which is consistent with the reported cases of classical polysplenia syndrome, viz., multiple spleens of equal volume, visceral heterotaxia, right (Rt.)-sided stomach, a left (Lt.)-sided or a large midline liver, malrotation of intestine, a short pancreas, PDPV and IVC abnormalities (Gayer et al., Abdom Imaging 24:178-184, 1999). In addition, abnormalities like anamolous origin of Lt. gastric and splenic arteries from the abdominal aorta with absent celiac trunk, hepatic artery arising from the superior mesenteric artery, hepatic veins draining directly to Rt. atrium, etc. along with hypertrophic and lipomatous interatrial septum have also been detected during further investigations. As of now, we have come across 29 cases of adult PDPV reported in world literature and we are reporting our unique case with a review of literature on anomalies of visceral organs associated with PDPV.

  5. Oncocytic Lipoadenoma of Submandibular Gland: A Case Report

    PubMed Central

    2015-01-01

    Lipomatous tumours of salivary glands are very uncommonly diagnosed and reported tumours. Majority of these tumours present as painless masses which grow slowly over many years. On the histological grounds, they can be subclassified into “monophasic” (lipoma component only) and “biphasic” (lipoma component+epithelial component) tumours. A handful of biphasic tumours contain oncocytic component and they have been omitted from the WHO classification of salivary gland tumours so far and this has remained a matter of persistent confusion and controversy over many years. Other rare variants of monophasic tumours include fibrolipoma, sialolipoma, angiolipoma, sialadenosis and very rarely a liposarcoma can also occur in salivary glands. Pre-operative imaging can help in picking up the fatty component of the tumours and guide in accurate classification. FNAC may not be accurate in diagnosis of these tumours. We report a case of 45-year-old gentleman presenting with submandibular gland swelling for which submandibular gland excision was done. A final diagnosis of oncocytic lipoadenoma was made. We present this rare entity to add to the few cases reported to date and hence, to increase recognisation and understanding of these rare tumours, which may help in establishing a reproducible subclassification. We have discussed the pathological aspects with review of literature of this very rare entity. PMID:25954628

  6. Oncocytic lipoadenoma of submandibular gland: a case report.

    PubMed

    Parmar, Harshad V

    2015-03-01

    Lipomatous tumours of salivary glands are very uncommonly diagnosed and reported tumours. Majority of these tumours present as painless masses which grow slowly over many years. On the histological grounds, they can be subclassified into "monophasic" (lipoma component only) and "biphasic" (lipoma component+epithelial component) tumours. A handful of biphasic tumours contain oncocytic component and they have been omitted from the WHO classification of salivary gland tumours so far and this has remained a matter of persistent confusion and controversy over many years. Other rare variants of monophasic tumours include fibrolipoma, sialolipoma, angiolipoma, sialadenosis and very rarely a liposarcoma can also occur in salivary glands. Pre-operative imaging can help in picking up the fatty component of the tumours and guide in accurate classification. FNAC may not be accurate in diagnosis of these tumours. We report a case of 45-year-old gentleman presenting with submandibular gland swelling for which submandibular gland excision was done. A final diagnosis of oncocytic lipoadenoma was made. We present this rare entity to add to the few cases reported to date and hence, to increase recognisation and understanding of these rare tumours, which may help in establishing a reproducible subclassification. We have discussed the pathological aspects with review of literature of this very rare entity.

  7. Spinal epidural angiolipomas: Clinical characteristics, management and outcomes

    PubMed Central

    Bouali, Sofiene; Maatar, Nidhal; Bouhoula, Asma; Abderrahmen, Khansa; Said, Imed Ben; Boubaker, Adnen; Kallel, Jalel; Jemel, Hafedh

    2016-01-01

    Purpose: The spinal epidural angiolipomas are rare expansive processes made of mature lipomatous and angiomatous elements. They often have a benign character. Their etiology, pathogenesis remains uncertain, and it is a cause of spinal cord compression. The magnetic resonance imaging is the most important neuroradiological examination. Histological examination is the only examination to confirm the diagnosis. Surgery is the treatment of choice. Methods: A retrospective study of all patients operated on for a spinal epidural angiolipoma at the Department of Neurosurgery at the National Institute of Neurology of Tunis between January 2000 and December 2014 (15 years) was performed. The aim of this study is to describe the clinical, radiological, histological characteristics and the treatment of this tumor. Results: A total of nine patients were operated from January 01, 2000 to November 30, 2014. The average age of our patients was 51 years with ages that ranged from 29 to 65 with a male predominance. The period between onset of symptoms and diagnosis ranged from 24 months with an average 12 months. Posterior localization of the tumor was seen in all patients. Surgical resection was performed for all cases. The postoperative course has been satisfactory, with a complete recovery of neurological functions in all patients. Conclusions: The spinal epidural angiolipomas is rare expansive process causing spinal cord compression. Treatment is exclusively surgical resection. The functional outcome of spinal epidural angiolipomas is particularly favorable with a complete neurological recovery is if the patient was quickly operated. PMID:27695535

  8. [Two cases of retroperitoneal liposarcoma arisen from perirenal fat tissue, which could not be diagnosed preoperatively].

    PubMed

    Hamano, Atsushi; Yamashita, Yuzoh; Katoh, Yoshitake; Yumura, Yasushi; Mikata, Kunihisa; Takase, Kazunori; Ohgo, Yoshiharu; Noguchi, Sumio; Nagashima, Yohji

    2004-12-01

    We report two cases of retroperitoneal liposarcoma arisen from the perirenal fat tissue, which could not be diagnosed preoperatively. Case 1 is a 58-year-old male. He complained of left flank tumor. Computed tomography and magnetic resonance image showed a mass over 10 cm that contained fat components in the retroperitoneal space. The tumor was resected with left nephrectomy and histological examination revealed well differentiated liposarcoma. As adjuvant therapy, he received chemotherapy and 30 months has passed uneventfully. Case 2 is a 70-year-old male. Screening ultrasonography revealed incidental retroperitoneal tumor. With clinical diagnosis as non-functioning adrenal tumor, he received left nephrectomy. The pathological diagnosis was well differentiated liposarcoma, sclerosing type. No adjuvant therapy was performed. He has stopped visiting our clinic due to aggravation of heart disease. The characteristics of the images of the two cases were different despite the histological resemblance. This difference was considered to be due to the difference in the distribution of lipomatous tissue in each patient.

  9. Left supraclavicular spindle cell lipoma.

    PubMed

    Olaleye, Oladejo; Fu, Bertram; Moorthy, Ram; Lawson, Charles; Black, Myles; Mitchell, David

    2010-01-01

    Background. Spindle cell lipoma (SCL) is a benign lipomatous tumour, typically occurring in the posterior neck, shoulder or upper back of elderly males. They compose of fat, CD34 positive spindle cells, and ropey collagen on a myxoid matrix. This case highlights a rare presentation of SCL and the need for pre-operative diagnosis. Case Report. A 63-year-old gentleman presented with a pre-existing left supraclavicular mass that had recently increased in size. FNA and CT Scans were performed and results discussed in the mutidisciplinary team meeting. Excisional biopsy was recommended. Radiology. CT neck showed a left supraclavicular mass of fatty density with fine internal septations. A low-grade liposarcoma could not be excluded. Histopathology. FNA was indeterminate. Histology of specimen showed bland spindle cells with no evidence of malignancy. Immuno-histochemistry showed SCL with CD34 positivity and negative staining on CDK4 and p16. Management. Excision biopsy of the mass was performed which was technically difficult as the mass invaginated around the brachial plexus. The patient recovered well post-operatively with no neurological deficits. Conclusion. Spindle cell lipoma is a rare benign tumour and a pre-operative diagnosis based on the clinical context, imaging and immuno-histochemistry is crucial to management.

  10. EGFR Exon 20 Insertion/Duplication Mutations Characterize Fibrous Hamartoma of Infancy.

    PubMed

    Park, Jason Y; Cohen, Cynthia; Lopez, Dania; Ramos, Erica; Wagenfuehr, Jennifer; Rakheja, Dinesh

    2016-12-01

    Fibrous hamartoma of infancy (FHI) is a benign mesenchymal tumor histologically characterized by a mixture of intersecting fascicles of fibroblasts/myofibroblasts in collagenous stroma, nests of primitive oval or stellate cells in basophilic mucoid stroma, and mature adipose tissue. We hypothesized that FHI, because of histologic overlap with mesenchymal overgrowth tumors seen in CLOVES (Congenital Lipomatous Overgrowth with Vascular, Epidermal, Skeletal anomalies) and Proteus syndromes, may harbor mutations in signaling pathways associated with cellular proliferation. Formalin-fixed paraffin-embedded material from a discovery set of 4 cases of FHI was investigated by targeted next-generation sequencing of a panel of cancer-associated genes. The results were confirmed by targeted Sanger sequencing of EGFR exon 20. A validation set of 8 cases of FHI and 10 cases of other pediatric fatty tumors were investigated by targeted Sanger sequencing of EGFR exon 20. All 12 cases of FHI, and none of the 10 control tumors, showed EGFR exon 20 insertion/duplication mutations. This is the first report of molecular aberrations in FHI. The consistent occurrence of EGFR exon 20 insertion/duplication mutations in 100% of cases of FHI studied suggests that they must play a principal role in the pathogenesis of FHI, likely by conferring a potential for growth and local infiltration. Although surgical treatment will remain the mainstay of FHI treatment, tyrosine kinase inhibitors may have an adjunctive role in cases that are difficult to resect.

  11. CT characteristics of primary retroperitoneal neoplasms in children.

    PubMed

    Xu, Yufeng; Wang, Jichen; Peng, Yun; Zeng, Jinjin

    2010-09-01

    Primary retroperitoneal neoplasms are uncommon in children. Retroperitoneal neoplasms are either mesodermal, neurogenic, germ cell ectodermal or lymphatic in origin. In general, primary retroperitoneal neoplasms in children have different spectrum and prevalence compared to those in adults. Neuroblastoma, rhabdomyosarcoma, benign teratoma and lymphoma are the common retroperitoneal neoplasms. In this review, the clinical and CT futures of common retroperitoneal neoplasms in children are described. Coarse, amorphous, and mottled calcification are very common in neuroblastoma. Paraganglioma tends to show marked and early enhancement and may present with clinical symptoms associated with the excess catecholamine. Sarcomas are often very large and have heterogeneous appearance. Imaging cannot be reliably used to identify the type of retroperitoneal sarcomas due to overlapped radiographic features. In children, lipoblastoma is the most common lipomatous tumor in the retroperitoneum. The percentage of visible fat in tumor varies depending on the cellular composition of the lesion. The CT characteristics of teratoma are quite variable, which may be cystic, solid, on a combination of both. Typically teratoma appears as a large complex mass containing fluid, fat, fat-fluid level, and calcifications. Lymphoma is often homogeneous on both enhanced and unenhanced CT scans. Necrosis and calcification are rare on CT. In conclusion, making a final histological diagnosis of retroperitoneal tumor base on CT features is not often possible; however, CT can help to develop a differential diagnosis and determine the size and extent of the retroperitoneal neoplasms.

  12. PLAG1 expression in mesenchymal tumors: an immunohistochemical study with special emphasis on the pathogenetical distinction between soft tissue myoepithelioma and pleomorphic adenoma of the salivary gland.

    PubMed

    Matsuyama, Atsuji; Hisaoka, Masanori; Hashimoto, Hiroshi

    2012-01-01

    PLAG1, a proto-oncogene activated in several types of tumors including pleomorphic adenoma of the salivary gland and lipoblastoma, is usually overexpressed because of chromosomal aberrations resulting in fusion genes. Myoepithelial tumors in soft tissue are morphologically similar to pleomorphic adenoma, but the genetic profiles of these tumors have not been fully examined. In the present study, we immunohistochemically evaluated the expression of PLAG1 in a series of 243 mesenchymal tumors. We determined that 14 tumors, including eight of 10 lipoblastomas, two of seven gastrointestinal stromal tumors, one of two angiomyofibroblastomas, one of five synovial sarcomas, one of seven leiomyomas and one of 12 myxofibrosarcomas were positive for PLAG1, whereas all seven soft tissue myoepitheliomas were PLAG1 negative. We examined two soft tissue myoepitheliomas, whose paraffin blocks were available, for fusion gene transcripts involving PLAG1 or HMGA2 specific for pleomorphic adenoma by a reverse transcription-polymerase chain reaction assay, and no fusion transcripts were detected. Our results suggest that soft tissue myoepithelioma may be a pathogenetically distinct tumor entity from pleomorphic adenoma based on the absence of PLAG1 overexpression and characteristic fusion genes. On the other hand, PLAG1 immunohistochemistry is useful for distinguishing lipoblastoma from other lipomatous tumors including liposarcoma.

  13. Spinal extradural angiolipoma: report of two cases and review of the literature

    PubMed Central

    García-Allut, Alfredo

    2009-01-01

    Spinal angiolipomas are benign uncommon neoplasm composed of mature lipocytes admixed with abnormal blood vessels. They account for only 0.04–1.2% of all spinal tumors. We report two cases of lumbar extradural angiolipoma and review previously reported cases. We found 118 cases of spinal epidural angiolipoma (70 females and 48 males; age range 1.5–85 years, mean 44.03) spanning from 1890 to 2006. Prior to diagnosis 40.6% of the patients had weakness of the lower limbs. The interval between the initial symptoms and tumor diagnosis ranged from 1 day to 17 years (mean 20.2 months). Except for four cases diagnosed at autopsy, 109 patients underwent surgery and gross-total resection was performed in 79 cases (72.4%). Spinal angiolipomas are tumors containing angiomatous and lipomatous tissue, predominantly located in the mid-thoracic region. All angiolipomas show iso- or hyperintensity on T1-weighted images and hyperintensity on T2-weighted images and most lesions enhance with gadolinium administration. The treatment for spinal extradural angiolipomas is total surgical resection and no adjuvant therapy should be administered. PMID:19127373

  14. Pleomorphic malignant fibrous histiocytoma/undifferentiated high-grade pleomorphic sarcoma of the scrotum in a patient presenting as fournier gangrene: a case report.

    PubMed

    Guo, Juan; Zhou, Shengmei; Rao, Nagesh P; Pez, Gholam H

    2010-10-01

    Pleomorphic malignant fibrous histiocytoma (MFH), also known as undifferentiated high-grade pleomorphic sarcoma according to the latest World Health Organization classification, is a diagnosis of exclusion and extremely rare in adult scrotal/paratesticular region. Clinical presentation of scrotal/paratesticular pleomorphic MFH is usually a painless and gradual scrotal swelling. We report a case of scrotal MFH in a 63-year-old man who presented as Fournier gangrene after 10-month painful scrotal swelling and multiple procedures. The specimen of emergent debridement was submitted for pathologic and bacteriologic examination. Microscopically, the lesion had marked architectural and cytologic pleomorphism. The neoplastic cells were positive for vimentin, but negative for all lineage-specific markers. Fluorescence in-situ hybridization showed an aneuploid karyotype and negative results for lipomatous tumor abnormalities. Bacterial cultures of the specimen showed extensive growth of virulent polymicrobes. The diagnosis of scrotal/paratesticular pleomorphic MFH with concurrent Fournier gangrene was made. Thoracic computed tomography scan showed bilateral multiple pulmonary nodules. The patient died 1 month later.

  15. Diagnostic dilemmas in enlarged and diffusely hemorrhagic adrenal glands.

    PubMed

    Diolombi, Mairo L; Khani, Francesca; Epstein, Jonathan I

    2016-07-01

    We have noted an increasing number of cases of enlarged adrenal glands where the underlying diagnosis was masked by a diffusely hemorrhagic process. We identified from our database 59 cases (32 consults, 27 routine) of adrenal glands with diffuse (>25%) hemorrhage received between 2000 and 2014. Fifty-three adrenalectomies and 6 biopsies were identified. The diagnoses after central review were 41 adrenocortical adenomas, 1 nodular adrenocortical hyperplasia with associated myelolipoma, 1 benign adrenocortical cyst, and 10 nonneoplastic adrenal glands with hemorrhage. A definitive diagnosis for the 6 biopsies was precluded by the sample size. The adrenocortical adenomas (size, 1-13 cm; 25%-95% hemorrhage) showed clear cell change in the neoplastic area (10%-80% of the tumor), 19 showed focal calcification (1 with ossification), 11 showed areas of papillary endothelial hyperplasia, 10 showed scattered lymphoplasmacytic inflammation, 6 showed benign cortical tissue extending beyond the adrenal capsule into soft tissue, 1 showed necrosis in the form of ghost cells, 2 showed lipomatous change, and 6 were associated with incidental benign lesions (1 cortical cyst, 1 schwannoma, and 4 myelolipomas). Twenty-four of the adrenocortical adenomas were consults where the referring pathologist had trouble classifying the lesion. Of the 10 nonneoplastic adrenals (4.5-22 cm; 40%-80% hemorrhage), 2 were consults. In summary, pathologists have difficulties recognizing adrenocortical adenomas in the setting of a massively enlarged and hemorrhagic adrenal gland. Although there is a correlation between adrenocortical malignancy and size, hemorrhage into nonmalignant adrenal glands can result in markedly enlarged adrenals.

  16. PIK3CA-related overgrowth spectrum (PROS): diagnostic and testing eligibility criteria, differential diagnosis, and evaluation.

    PubMed

    Keppler-Noreuil, Kim M; Rios, Jonathan J; Parker, Victoria E R; Semple, Robert K; Lindhurst, Marjorie J; Sapp, Julie C; Alomari, Ahmad; Ezaki, Marybeth; Dobyns, William; Biesecker, Leslie G

    2015-02-01

    Somatic activating mutations in the phosphatidylinositol-3-kinase/AKT/mTOR pathway underlie heterogeneous segmental overgrowth phenotypes. Because of the extreme differences among patients, we sought to characterize the phenotypic spectrum associated with different genotypes and mutation burdens, including a better understanding of associated complications and natural history. Historically, the clinical diagnoses in patients with PIK3CA activating mutations have included Fibroadipose hyperplasia or Overgrowth (FAO), Hemihyperplasia Multiple Lipomatosis (HHML), Congenital Lipomatous Overgrowth, Vascular Malformations, Epidermal Nevi, Scoliosis/Skeletal and Spinal (CLOVES) syndrome, macrodactyly, Fibroadipose Infiltrating Lipomatosis, and the related megalencephaly syndromes, Megalencephaly-Capillary Malformation (MCAP or M-CM) and Dysplastic Megalencephaly (DMEG). A workshop was convened at the National Institutes of Health (NIH) to discuss and develop a consensus document regarding diagnosis and treatment of patients with PIK3CA-associated somatic overgrowth disorders. Participants in the workshop included a group of researchers from several institutions who have been studying these disorders and have published their findings, as well as representatives from patient-advocacy and support groups. The umbrella term of "PIK3CA-Related Overgrowth Spectrum (PROS)" was agreed upon to encompass both the known and emerging clinical entities associated with somatic PIK3CA mutations including, macrodactyly, FAO, HHML, CLOVES, and related megalencephaly conditions. Key clinical diagnostic features and criteria for testing were proposed, and testing approaches summarized. Preliminary recommendations for a uniform approach to assessment of overgrowth and molecular diagnostic testing were determined. Future areas to address include the surgical management of overgrowth tissue and vascular anomalies, the optimal approach to thrombosis risk, and the testing of potential

  17. Dermatologic findings of focal dermal hypoplasia (Goltz syndrome).

    PubMed

    Bree, Alanna F; Grange, Dorothy K; Hicks, M John; Goltz, Robert W

    2016-03-01

    Goltz syndrome, caused by mutations in PORCN, is an X-linked dominant ectodermal dysplasia which is also known as focal dermal hypoplasia. This name is derived from the predominant pathologic skin findings of the syndrome. Nineteen Goltz-affected participants attended a multidisciplinary scientific and clinical conference convened by the National Foundation for Ectodermal Dysplasia which allowed further characterization of the features of this very rare condition. At birth, the affected areas of skin are typically erythematous and fragile. The hallmark cutaneous features, which vary widely due to mosacism and X-inactivation, include the previously described skin changes of asymmetric Blaschko-linear and reticulated atrophy, pigmentary changes, and telangectasias. Lipomatous changes and papillomas as characteristically defined were reported in the majority of patients. A newly recognized skin finding was progressive hyperpigmented freckling that occurred within the hypopigmented areas which were noted to be photosensitive. Many patients also had a pebbly texture to the central face, dorsal hands and feet. Punctate erosions within the atrophic areas and hypohidrosis were also common. Most had patchy alopecia and many had diffusely thin hair. Scanning electron microscopy of the hair shafts revealed abnormalities in the majority of participants with several different features identified, including atrophic hairs with reduced diameters, markedly flattened hairs as noted in cross-sectional views, trichorrhexis nodosa, pili torti, and pili trianguli et canaliculi. Nail changes included V-nicking and longitudinal ridging of the nail plate, in addition to micronychia. Early recognition of the dermatologic features, in addition to the variable but universal limb anomalies, of Goltz syndrome will allow early and accurate diagnosis without the need for extensive diagnostic studies, while also allowing for accurate prognosis and appropriate genetic counseling.

  18. Clinical Delineation and Natural History of the PIK3CA-Related Overgrowth Spectrum**

    PubMed Central

    Keppler-Noreuil, Kim M; Sapp, Julie C; Lindhurst, Marjorie J; Parker, Victoria ER; Blumhorst, Cathy; Darling, Thomas; Tosi, Laura L; Huson, Susan M; Whitehouse, Richard W; Jakkula, Eveliina; Grant, Ian; Balasubramanian, Meena; Chandler, Kate E; Fraser, Jamie L; Gucev, Zoran; Crow, Yanick J; Brennan, Leslie Manace; Clark, Robin; Sellars, Elizabeth A; Pena, Loren DM; Krishnamurty, Vidya; Shuen, Andrew; Braverman, Nancy; Cunningham, Michael L; Sutton, V Reid; Tasic, Velibor; Graham, John M; Geer, Joseph; Henderson, Alex; Semple, Robert K; Biesecker, Leslie G

    2014-01-01

    Somatic mutations in the phosphatidylinositol/AKT/mTOR pathway cause segmental overgrowth disorders. Diagnostic descriptors associated with PIK3CA mutations include fibroadipose overgrowth (FAO), Hemihyperplasia multiple Lipomatosis (HHML), Congenital Lipomatous Overgrowth, Vascular malformations, Epidermal nevi, Scoliosis/skeletal and spinal (CLOVES) syndrome, macrodactyly, and the megalencephaly syndrome, Megalencephaly-Capillary malformation (MCAP) syndrome. We set out to refine the understanding of the clinical spectrum and natural history of these phenotypes, and now describe 35 patients with segmental overgrowth and somatic PIK3CA mutations. The phenotypic data show that these previously described disease entities have considerable overlap, and represent a spectrum. While this spectrum overlaps with Proteus syndrome (sporadic, mosaic, and progressive) it can be distinguished by the absence of cerebriform connective tissue nevi and a distinct natural history. Vascular malformations were found in 15/35 (43%) and epidermal nevi in 4/35 (11%) patients, lower than in Proteus syndrome. Unlike Proteus syndrome, 31/35 (89%) patients with PIK3CA mutations had congenital overgrowth, and in 35/35 patients this was asymmetric and disproportionate. Overgrowth was mild with little postnatal progression in most, while in others it was severe and progressive requiring multiple surgeries. Novel findings include: adipose dysregulation present in all patients, unilateral overgrowth that is predominantly left-sided, overgrowth that affects the lower extremities more than the upper extremities and progresses in a distal to proximal pattern, and in the most severely affected patients is associated with marked paucity of adipose tissue in unaffected areas. While the current data are consistent with some genotype–phenotype correlation, this cannot yet be confirmed. © The Authors. American Journal of Medical Genetics Part A published by Wiley Periodicals, Inc. PMID:24782230

  19. Three dosimetry models of lipoma arborescens treated by {sup 90}Y synovectomy

    SciTech Connect

    O’Doherty, Jim; Clauss, Ralf; Scuffham, James; Khan, Aman; Petitguillaume, Alice; Desbrée, Aurélie

    2014-05-15

    Purpose: Lipoma arborescens (LA) is a benign intra-articular lipomatous proliferation of the synovial membrane. This extremely rare condition has previously been treated by intra-articular{sup 90}Y radiosynoviorthesis but dosimetry literature on this form of radionuclide therapy is nonexistent. The authors detail methodology for successful treatment of LA and provide for the first time estimates of radiation dosimetry. The authors also analyze the biodistribution of the radiopharmaceutical over the course of the patient's treatment through sequential imaging. Methods: A patient with bilateral LA underwent intracavity injection of{sup 90}Y citrate colloid to the right and left knee joint spaces (181 and 198 MBq, respectively). SPECT/CT datasets were acquired over 9 days to quantify the biodistribution and kinetics of the radiopharmaceutical. Radiation dosimetry was performed using the MIRD schema (through OLINDA software), a custom voxel-based method, and a direct Monte Carlo calculation (OEDIPE). Results: Follow-up MRI showed marked reduction in LA size in both knees. Mean absorbed doses to the LA were 21.2 ± 0.8 and 42.9 ± 2.3 Gy using OLINDA, 8.1 ± 0.3 and 16.7 ± 0.5 Gy using voxel based methodology, and 8.2 ± 0.3 and 15.7 ± 0.5 Gy for OEDIPE in the right and left LA, respectively. Distribution of the radiopharmaceutical within the joint space alters over the imaging period, with less than 1% of the remaining activity having moved posteriorly in the knee cavity. No uptake was detected outside of the joint space after assessment with whole-body scintigraphy. Conclusions: An activity of approximately 185 MBq successfully relieved clinical symptoms of LA. There was good correlation between direct Monte Carlo and voxel based techniques, but OLINDA was shown to overestimate the absorbed dose to the tumor. Accurate dosimetry may help select an activity more tailored to the specific size and location of the LA.

  20. In vivo verification of proton beam path by using post-treatment PET/CT imaging

    SciTech Connect

    Hsi, Wen C.; Indelicato, Daniel J.; Vargas, Carlos; Duvvuri, Srividya; Li Zuofeng; Palta, Jatinder

    2009-09-15

    studies, referred as motion-after-Tx cases, also show large misalignment between the field edge and the positron emission distribution in lipomatous tissues around the prostate. These motion-after-Tx cases correspond to patients with large changes in volume of rectal gas between the post-Tx and the post-PET CTs. The standard deviations for D{sub AP} and D{sub SI} are 5.0 and 3.0 mm, respectively, for these motion-after-Tx cases. The final seven studies, referred to as position-error cases, which had a large discordance but no misalignment, were found to have deviations of 4.6 and 3.6 mm in D{sub AP} and D{sub SI}, respectively. The position-error cases correspond to a large discrepancy on the relative location between the centroid and pelvic bones seen in post-Tx CT and recorded x-ray radiographs. Conclusions: Systematic analyses of proton-activated positron emission distributions provide patient-specific information on prostate motion ({sigma}{sub M}) and patient position variability ({Sigma}{sub p}) during daily proton beam delivery. The less than 2 mm of displacement variations in the good cases indicates that population-based values of {Sigma}{sub p} and {sigma}{sub M} used in margin algorithms for treatment planning at the authors' institution are valid for the majority of cases. However, a small fraction of PET/CT studies (approximately 14%) with {approx}4 mm displacement variations may require different margins. Such data are useful in establishing patient-specific planning target volume margins.

  1. Morphologic characterization of spontaneous nervous system tumors in mice and rats.

    PubMed

    Krinke, G J; Kaufmann, W; Mahrous, A T; Schaetti, P

    2000-01-01

    . Primitive neuroectodermal tumors of rats, such as pineal tumors or medulloblastomas, appear to have features similar to those found in man. In mice, the meningeal tumors are mostly devoid of granular cells and the astrocytomas are similar to those occurring in rats, whereas spontaneous oligodendrogliomas are observed extremely rarely. Tumorlike lesions, such as lipomatous hamartomas or epidermoid cysts, are occasionally encountered in the mouse CNS. It is suggested that we classify rodent CNS lesions as "low grade" and "high grade" rather than as "benign" and "malignant." The size of CNS tumors is generally related to their malignancy. Tumors of the peripheral nervous system are schwannomas and neurofibromas or neurofibrosarcomas consisting of Schwann cells, fibroblasts, and perineural cells. Well-differentiated schwannomas are characterized by S-100 positivity and the presence of basement membrane. They show either Antoni A pattern with fusiform palisading cells or Antoni B pattern, which is sparsely cellular and has a clear matrix. The rat develops specific forms of schwannomas in the areas of the submandibular salivary gland, the external ear, the orbit, and the endocardium. Spontaneous ganglioneuromas occur in the rat adrenal medulla or thyroid gland. Compared to experimentally induced neoplasms, the spontaneous tumors of the rodent nervous system are poor and impractical models of human disease, although they may serve as general indicators of the carcinogenic potential of tested chemicals.