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Sample records for hemosiderotic fibrohistiocytic lipomatous

  1. 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

  2. Plexiform fibrohistiocytic tumor of bone.

    PubMed

    Yalcinkaya, Ulviye; Uz Unlu, Mehtat; Bilgen, M Sadik; Yazici, Zeynep

    2013-11-01

    Plexiform fibrohistiocytic tumor is an extremely rare soft tissue tumor with a low malignancy potential. The patient is usually a child or a young adolescent and the tumor is usually localized in the upper extremities. We report on a case of a 21-year old male with a plexiform fibrohistiocytic tumor in the left fibula admitted to our hospital due to a swelling and pain in the left lower extremity. Radiologically a lytic lesion in the distal end of left fibula consistent with a non-aggressive lesion with low biological activity was found. Treated with curettage, the specimen revealed plexiform proliferation of mononuclear histiocyte-like cells, multinucleated osteoclast-like cells, and spindle fibroblast-like cells in variable proportions histopathologically. Immunohistochemical stains were positive for CD68 in scattered fashion in histiocytes and giant cells, and spindle like cells showed positivity for smooth muscle actin. Under electron microscopy, rough endoplasmic reticulum and collagen bundles in the spindle cells suggested fibroblastic differentiation. Also multiple large electron-dense lysosomal granules in histiocytoid cells were found. Multinucleated giant cells exhibited osteoclast-like appearance. All these findings suggested plexiform fibrohistiocytic tumor. Interestingly, the tumor was localized in bone. During the follow up for 27 months after the resection, there was no recurrence or metastasis. PMID:24274718

  3. Multiple cutaneous lipomatous neurofibromas.

    PubMed

    Texeira, M S; Duraes, Smb; Pereira, L A; Pantaleao, L

    2016-01-01

    Cutaneous lipomatous neurofibroma is a rare variant of neurofibroma with a little known pathogenesis; its presence has never been described in Brazil. A 61- year-old woman complaining scalp papules for one year, presented with skin colored to yellowish papules on the scalp. She noted that they were sometimes itchy and occasionally bled. Dermoscopy showed amorphous material, milky white, with a small poorly delimited yellowish area. Histopathological examination revealed spindle cell proliferation associated with mature adipocytes. Cutaneous lipomatous neurofibroma appears to be an underdiagnosed condition owing to the low index of suspicion and lack of knowledge of its existence. Few cases have been reported in the literature. PMID:27267198

  4. Lipomatous ganglioneuroma of the retroperitoneum.

    PubMed

    Meng, Qing-Da; Ma, Xiao-Ning; Wei, Hong; Pan, Rong-Hui; Jiang, Wei; Chen, Fang-Shu

    2016-04-01

    Lipomatous ganglioneuroma (LG) is a rare variant of ganglioneuroma that is histologically characterized by a mature adipocytic component admixed with a conventional ganglioneuroma. We report the clinicopathological and immunohistochemical features of an LG in a 44-year-old Chinese male; additionally, we review the literature regarding this type of tumor. Magnetic resonance imaging revealed a left paravertebral soft-tissue mass at the T11-L3 levels. Grossly, the encapsulated neoplasm had a white to yellowish cut surface and rubbery consistency. Microscopic evaluation revealed an encapsulated lesion that consisted of areas of ganglioneuroma admixed with areas of mature fat. By immunohistochemistry, the ganglion cells were positive for chromogranin and synaptophysin, whereas the Schwann cells were positive for vimentin, S-100 protein, and glial fibrillary acidic protein (GFAP). This is the second known report of a retroperitoneal LG. The patient was well and without evidence of disease at 2 years' follow-up. PMID:23978430

  5. Pathologic and prognostic characteristics of splenomegaly in dogs due to fibrohistiocytic nodules: 98 cases.

    PubMed

    Spangler, W L; Kass, P H

    1998-11-01

    Ninety-eight canine splenectomy specimens consisting of combined nodular lymphoid and fibrohistiocytic cell proliferation were evaluated for seven light microscopic characteristics. Electron microscopic features in eight primary and two metastatic nodules (liver) were also evaluated. Nodular fibrohistiocytic proliferation in the canine spleen is characterized by a mixed population of histiocytoid and/or spindle cells in varying proportions intermixed with hematopoietic elements, plasma cells, and/or lymphocytes. These nodules seem to form a continuum between splenic lymphoid nodular hyperplasia and malignant splenic stromal neoplasms (malignant fibrous histiocytoma). Immunohistochemical methods used on 32/98 specimens showed uniform and strong positive staining among fibrohisiocytic cells for vimentin and desmin; S100 protein was similarly stained in general abundance. Individual cells strongly stained with smooth muscle actin were sparse but widely distributed. Proliferating cell nuclear antigen was not useful in the subjective differentiation of nodules taken from dogs that died of spleen-related causes and those surviving 12 months following splenectomy. A spectrum of cell types were observed by electron microscopy within each nodule. Fibroblasts, macrophages, intermediate fibrohistiocytic types, and several forms of splenic reticular cells were present. There were no consistent alterations in hematology or serum chemistry profiles of these dogs to provide useful diagnostic/prognostic information. Among the 93/98 dogs with complete (12 month) follow-up information, 48% (45/93) were alive and 52% (48/93) were dead. Dogs that died or were euthanatized during the follow-up period had a median survival of 5 and 5.5 months, respectively (range 0-15 months). Forty-four percent (21/48) died from causes linked to their splenic disease, and 35% (17/48) died from competing causes. The cause of death in 21% (10/48) was unknown. Lymphoid:fibrohistiocytic proportion and

  6. A Rare Case of Lipomatous Hypertrophy of the Interventricular Septum

    PubMed Central

    Matsiras, Sotirios; Vassilikos, Vassilios

    2016-01-01

    Asymmetrical left ventricular hypertrophy secondary to interventricular septum hypertrophy is usually considered a typical phenotype of hypertrophic cardiomyopathy. In rare cases other conditions such as tumors or lipomatous hypertrophy of the interventricular septum may have a similar presentation. We present a case of a male patient who presented for routine cardiology work up and was diagnosed of having ventricular septal hypertrophy secondary to localized lipomatous hypertrophy. PMID:27358712

  7. Lipomatous Change in Uveal Melanoma: Histopathological, Immunohistochemical and Cytogenetic Analysis

    PubMed Central

    Yavuzyigitoglu, Serdar; Kilic, Emine; Vaarwater, Jolanda; de Klein, Annelies; Paridaens, Dion; Verdijk, Robert M.

    2016-01-01

    Purpose The aim of this study was to describe a case of lipomatous change in uveal melanoma. Procedures The patient presented with a 2-year history of blurry vision. A full examination of the right eye revealed a dome-shaped pigmented subretinal mass in the choroid with a thickness of 9 mm and a diameter of 15 mm. The eye was enucleated and prepared for histopathologic, genetic and molecular investigation. Results Histopathology revealed a small circumscribed area consisting of mature adipocytic appearing cells with abundant clear cytoplasm and small peripheral flattened nuclei within a spindle-cell melanoma of the uvea. The cytoplasm of the adipocytic cells stained negative for periodic acid-Schiff and Alcian blue and positive for Melan-A, HMB-45 and tyrosinase, confirming melanocytic lineage. Fluorescence in situ hybridization analysis confirmed trisomy of chromosome 6p22 and disomy of chromosome 3p13 in the nuclei of both the tumor spindle type B cells and in the nuclei of lipomatous tumor cells. Conclusions Lipomatous change can be added to the many histopathologic faces of uveal melanoma. To our knowledge, this is the first report of lipomatous change in uveal melanoma performed with cytogenetic investigations. PMID:27239451

  8. Lipomatous angiomyofibroblastoma of the vulva: diagnostic and histogenetic considerations.

    PubMed

    Magro, G; Salvatorelli, L; Angelico, G; Vecchio, G M; Caltabiano, R

    2014-12-01

    We report a rare case of angiomyofibroblastoma (AMFB) of the vulva, composed predominantly of a mature fatty component, representing approximately 60% of the entire tumour. The tumour, designated as "lipomatous AMFB", should be interpreted as the morphological result of an unbalanced bidirectional differentiation of the presumptive precursor stromal cell resident in the hormonally-responsive stroma of the lower genital tract, with the adipocytic component overwhelming the fibroblastic/myofibroblastic one. The close admixture of adipocytes with spindled/epithelioid cells of the conventional AMFB resulted, focally, in a pseudo-infiltrative growth pattern and pseudo-lipoblast-like appearance, raising problems in differential diagnosis, especially with well-differentiated lipoma-like liposarcoma and spindle cell liposarcoma. Awareness of the possibility that vulvo-vaginal AMFB may contain large amount of lipomatous component is crucial to avoid confusion with other bland-looking spindle cell tumours containing infiltrating fat. PMID:25845047

  9. An unusual lipomatous brain mass in a Golden Retriever dog.

    PubMed

    Scott, Steven J; Elliot, Kirsty; Philibert, Helene; Summers, Brian A; Godson, Dale; Singh, Baljit; Simko, Elemir

    2015-11-01

    A 9-year-old Golden Retriever dog was presented to the Veterinary Medical Center with a 3-week history of grand mal seizures and was subsequently euthanized. At autopsy, a discrete, firm, expansile mass was found in the right pyriform lobe, which compressed the ipsilateral hippocampus, thalamus, and cerebral cortex. Histologically, the mass was composed of well-differentiated adipose tissue supported by fibrous and mucinous stroma. Adipocytes exhibited strong immunoreactivity for vimentin and were negative for pancytokeratin (AE1/AE3), glial fibrillary acidic protein, neuron-specific enolase, and synaptophysin. These findings are most compatible with an intracranial lipomatous hamartoma, which is an extraparenchymal lesion that has been identified in several species. The current report describes an intracerebral lipomatous hamartoma in a veterinary species. PMID:26450836

  10. Pleomorphic rhabdomyosarcoma showing smooth-muscle and fibrohistiocytic differentiation: a single case report.

    PubMed

    Eyden, Brian

    2010-02-01

    Rhabdomyosarcoma has traditionally been subclassified into alveolar, embryonal, and pleomorphic variants. Less commonly, spindle-cell, neuroendocrine, sclerosing, and lipid-rich or clear-cell subtypes are seen. The author recently encountered a myogenic sarcoma, with all the common markers of rhabdomyosarcoma, but expressing the unusual features of alpha-smooth-muscle actin and abundant rough endoplasmic reticulum (rER). This myogenic sarcoma, therefore, exhibited four lines of differentiation, and is documented here. The patient was a 65-year-old man with an inguinal soft tissue mass. Following surgical excision, the patient was given radiotherapy and was well without disease after 6 years. The tumor was positive for vimentin, desmin, alpha-smooth-muscle actin, alpha-sarcomeric actin, myogenin, MyoD1, and CD68. Cytoplasm was dominated by abundant rER intermingled with lipid droplets and lysosomes. Cell surfaces exhibited microvillous processes and focal adhesions, but no lamina. Subplasmalemmal smooth-muscle-type myofilaments with focal densities and rare sarcomeric filaments were seen. The low level of expression of some markers was interpreted as consistent with a poorly differentiated tumor. Given the four lines of differentiation--striated muscle, smooth muscle, fibroblastic, and histiocytic--a name reflecting its phenotype would be pleomorphic rhabdomyosarcoma showing smooth-muscle and fibrohistiocytic differentiation. PMID:20070153

  11. Clinical outcome in patients with peripherally‐sited atypical lipomatous tumours and dedifferentiated liposarcoma

    PubMed Central

    Kalimuthu, Sangeetha N; Tilley, Charles; Forbes, Georgina; Ye, Hongtao; Lehovsky, Katie; Pillay, Nischalan; Seddon, Beatrice M; O'Donnell, Paul; Pollock, Robin; Tirabosco, Roberto; Amary, M Fernanda

    2015-01-01

    Abstract The reported incidence of local recurrence of peripheral atypical lipomatous tumours is highly variable and is likely to reflect the different inclusion criteria of cases, and the design of previous studies. We aimed to study the incidence of local recurrence of 90 cases of atypical lipomatous tumours and an additional 18 cases of de novo dedifferentiated liposarcoma. All tumours were diagnosed on the basis of MDM2 amplification: all patients had their first treatment in the same specialist sarcoma unit and were followed for a minimum of 60 months. The tumours were diagnosed between 1997 and 2009 and followed until the end of 2014. Seventy cases (78%) of atypical lipomatous tumours were located in the thigh (mean size 195 mm on presentation). Eight atypical lipomatous tumours (8.9%) recurred locally, of which 50% recurred after 60 months. The only two tumours with intralesional excisions recurred. Seven of the eight recurrent tumours were detected by the patient by self‐examination. One case recurred a second time as a dedifferentiated liposarcoma. Seventeen per cent of the de novo dedifferentiated liposarcomas recurred within 60 months of presentation. Extending the study period revealed that atypical lipomatous tumour could recur up to 40 years after the first surgery. Furthermore, of 26 tumours that recurred in the extended study, 27% recurred more than once, and three of the seven that recurred more than once transformed into a dedifferentiated liposarcoma. We recommend that, following post‐operative wound care, patients with atypical lipomatous tumour are referred back to their general practitioner for follow up, but that in the event of a suspected recurrence they have rapid access back to the specialist unit using a ‘supported discharge’ scheme. In the event of an intralesional excision and if a lesion recurs, patients are followed in a specialist unit at regular intervals: whether MRI scanning is a valuable means of monitoring such

  12. Spindle Cell Lipoma Occurring in the Buccal Mucosa: An Unusual Location of This Benign Lipomatous Neoplasm

    PubMed Central

    Milhan, Noala Vicensoto Moreira; Cavalcante, Ana Sueli Rodrigues; Marques, Yonara Maria Freire Soares; Carvalho, Yasmin Rodarte; Anbinder, Ana Lia

    2015-01-01

    Spindle cell lipoma is a benign lipomatous neoplasm, which rarely occurs in the oral cavity. The aims of this paper are to report a case of spindle cell lipoma located in buccal mucosa and discuss the main clinical, histological, and immunohistochemical findings of this entity. Thus, we report a 4-year history of an asymptomatic smooth surface nodule in an elderly Caucasian man with clinical hypothesis of fibroma. The histopathological examination showed spindle cells, mature adipose tissue, and many mast cells in a stroma of connective tissue presenting ropey collagen fibers bundles. After immunohistochemical analysis, the final diagnosis was spindle cell lipoma. PMID:26491592

  13. Cardiac lipoma and lipomatous hypertrophy of the interatrial septum: cardiac magnetic resonance imaging findings.

    PubMed

    Salanitri, John C; Pereles, F Scott

    2004-01-01

    Cardiac lipomas are uncommon, usually asymptomatic benign primary tumors of the heart that may incidentally be discovered during computed tomography (CT) or magnetic resonance imaging (MRI). Although the finding of a low-attenuation mass with density similar to fat on CT is pathognomonic, the MRI appearances of fatty cardiac masses are variable depending on the sequences employed. The MRI findings of 4 patients with cardiac lipomas or lipomatous hypertrophy of the interatrial septum are presented. All patients had lesions with characteristic low-signal-intensity margins and high central signal intensity on "bright-blood" balanced gradient-echo cardiac MRI sequences with very low repetition and echo times. It is proposed that this appearance results from intravoxel phase cancellation effects occurring at the fat/tissue interface and is sufficiently characteristic to obviate the need for confirmatory CT. PMID:15538164

  14. Lipomatous hypertrophy of the interatrial septum and fibrosing mediastinal lymphadenopathy causing superior vena cava obstruction

    PubMed Central

    Baikoussis, Nikolaos G.; Argiriou, Orestis; Kratimenos, Theodoros; Dedeilias, Panagiotis; Argiriou, Michalis

    2015-01-01

    Lipomatous hypertrophy of the interatrial septum (LHIS) is an uncommon cause of superior vena cava syndrome (SVCS). Fibrosing mediastinal lymphadenopathy is another cause of SVCS. We present a 65-year-old female patient with a history of tuberculosis (TB) and the coexistence of LHIS and fibrosing mediastinitis due to TB of the lung. Fibrosing or sclerosing mediastinitis is a rare entity with few cases published in the western literature. She presented with mild symptomatology of SVCS and she underwent on transthoracic and transesophageal echocardiography, computed tomography scan, magnetic resonance imaging, and venography. Due to the development of an abundant collateral venous system seen on venography and her negation for any treatment, she did not undergo yet on any intervention. To our knowledge, this is the first case reported in the international bibliography in which LHIS and sclerosing lymphadenopathy are simultaneously diagnosed in the same patient. PMID:26440257

  15. A case report of spindle cell myoepithelioma with extensive lipomatous metaplasia and thick collagen bundles in the submandibular gland.

    PubMed

    Kwon, Mi Jung; Kim, Hye Jeong; Park, Bumjung; Cho, Seong Jin; Shin, Hyung Sik; Park, Hye-Rim; Min, Soo Kee; Seo, Jinwon; Min, Kyueng-Whan; Nam, Eun Sook

    2016-09-01

    Spindle cell myoepithelioma with extensive lipomatous metaplasia and thick collagen bundles has not yet been described, and there are no published reports on its cytological appearance in fine-needle aspiration (FNA). A 49-year-old man presented with a painless mass in the right submandibular area that had been gradually enlarging for a period of 5 years. The cytologic smears showed fascicles of cohesive spindle cells as well as individual bland cells with bipolar naked nuclei in a fibrillary background. Brightly eosinophilic bundles were intermingled with spindle cells and fat-like vacuoles. The FNA results were suggestive of neurogenic tumor. Patient underwent submandibular gland resection. Grossly, the cut surface showed a well-encapsulated, yellowish-white, soft, elastic mass, measuring 2.8 × 1.9 × 1.5 cm. The tumor consisted of uniform bland spindle cells arranged in short fascicles admixed with adipocyte-like cells and transversing thick collagen bundles, which demonstrated immunoreactivity for myoepithelial markers and ultrastructural features characteristic of myoepithelial cells, suggesting the presence of lipomatous metaplasia. The FNA cytology of spindle cell myoepithelioma with extensive lipometaplasia mimicked that of neurogenic tumor or lipomatous mesenchymal tumor. This case represents the first description of submandibular gland myoepithelioma with lipometaplasia, which is characterized by the coexistence of spindle cells, collagen bundles, and fat-like vacuoles in a fibrillary background. Diagn. Cytopathol. 2016;44:764-769. © 2016 Wiley Periodicals, Inc. PMID:27307392

  16. 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. PMID:26942599

  17. Clinical and morphologic features of lipomatous hypertrophy ("massive fatty deposits") of the interatrial septum.

    PubMed

    Gay, J D; Guileyardo, J M; Townsend-Parchman, J K; Ross, K

    1996-03-01

    Lipomatous hypertrophy of the interatrial septum ("massive fatty deposits in the atrial septum") may represent an incidental autopsy finding or may be associated with atrial arrhythmias, obstructive symptoms, or sudden death. Antemortem diagnosis is becoming much more common. In a literature review and in a review of our 12 cases, this condition was found to occur more frequently in obese middle-aged or elderly subjects, who frequently demonstrated atherosclerotic coronary artery disease. The unencapsulated mass generally occurred anterior or superior to the fossa ovalis, and histologically was characterized by mature fat with varying quantities of fetal fat, inflammation and fibrosis, and entrapment of myocardial fibers with cytologic atypia. Cases were included that had a minimum atrial septal thickness of 1.0 cm. The septum ranged up to 7.0 cm in maximum thickness (2.6 cm average). In our cases, no deaths were directly attributed to this disorder. It is important that forensic pathologists become more generally aware of this condition. To further delineate the true pathological significance, the atrial septum should be routinely examined by palpation and sectioning to determine its thickness and fat content. PMID:8838469

  18. Lipomatous nevus and urethral caruncle mistaken for ambiguous genitalia in a female infant.

    PubMed

    Brasileiro, Luciana Ferreira; Dias Pereira, Luis Antonio Violin; Miranda, Márcio Lopes; de Freitas, Leandro Luiz Lopes; Marques-de-Faria, Antonia Paula; Maciel-Guerra, Andrea Trevas; Guerra-Junior, Gil

    2016-02-01

    We report the case of a 46,XX infant referred at 3 months of age for evaluation of ambiguous genitalia with no palpable gonads. The phallus was replaced by a homogeneous peduncular structure covered by skin, and a second peduncular structure covered by mucosa was located between the labia minora above the urethral meatus and the vaginal opening. There were no associated anomalies, and she had normal growth and neuromotor development. During surgery to remove these structures, a bifid clitoris was detected and cystoscopy and vaginoscopy revealed normal female urethra and vagina. The structure located on the phallic region was a superficial lipomatous nevus, and the other mass was a congenital urethral caruncle with ectopic migration/differentiation of colonic epithelium into ventral and anterior part of the urogenital sinus. Both genital lipomas and congenital caruncles of the female urethra are very rare and their etiology is unknown. There is no previous report of coincidence of these two rare findings in an otherwise healthy girl. PMID:26353166

  19. 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

  20. Lipomatous salivary gland tumors: a series of 31 cases spanning their morphologic spectrum with emphasis on sialolipoma and oncocytic lipoadenoma.

    PubMed

    Agaimy, Abbas; Ihrler, Stephan; Märkl, Bruno; Lell, Michael; Zenk, Johannes; Hartmann, Arndt; Michal, Michal; Skalova, Alena

    2013-01-01

    Lipomatous neoplasms of the salivary glands are rare. Their wide histologic spectrum has not been sufficiently studied. We collected 31 fat-containing salivary gland lesions excluding pleomorphic adenoma and myoepithelioma with lipometaplasia. There were 19 male and 12 female patients aged 7 to 89 years (mean, 53 y). Tumors originated in the parotid (n=29) and the submandibular (n=2) gland. On the basis of the proportion and distribution of adipose tissue and the epithelial type, tumors could be categorized into 3 main groups: ordinary lipoma (n=20) identical to soft tissue lipoma but located within the salivary gland, oncocytic lipoadenoma (n=6) composed predominantly of oncocytes with variable fatty component, nononcocytic sialolipoma (n=4) composed of lobular fatty tissue (≥70%) with evenly distributed normal salivary tissue recapitulating the composition of normal salivary glands and microcystic lipoadenoma (n=1) composed of cystic ducts admixed with adipose tissue. The mean tumor size was 3.3, 3.8, and 2.9 cm for lipoma, oncocytic lipoadenoma, and nononcocytic sialolipoma, respectively. Associated diseases included Madelung disease with bilateral atypical lipomatous tumors of the neck and bilateral parotid lipoma (1), oncocytic lipoadenoma after irradiation for sinonasal adenocarcinoma (1), and periparotideal lipoma excised years before oncocytic lipoadenoma (1) and nononcocytic sialolipoma (1). No recurrence was recorded at a mean follow-up of 72 months (range, 6 to 184 mo). Sebaceous islands were seen in 5/6 oncocytic lipoadenomas and in 2/4 sialolipomas. Periductal inflammation/fibrosis was common in sialolipoma and oncocytic lipoadenoma. This study demonstrates the wide morphologic spectrum of fatty salivary gland lesions. Oncocytic lipoadenoma is an epithelial-predominant tumor that is distinct from the fat-dominated nononcocytic sialolipoma, but the 2 types seem to merge in some cases. PMID:23232852

  1. Lipomatous Atrial Septal Hypertrophy: A Review of Its Anatomy, Pathophysiology, Multimodality Imaging, and Relevance to Percutaneous Interventions.

    PubMed

    Laura, Diana M; Donnino, Robert; Kim, Eugene E; Benenstein, Ricardo; Freedberg, Robin S; Saric, Muhamed

    2016-08-01

    Lipomatous atrial septal hypertrophy (LASH) is a histologically benign cardiac lesion characterized by excessive fat deposition in the region of the interatrial septum that spares the fossa ovalis. The etiology of LASH remains unclear, though it may be associated with advanced age and obesity. Because of the sparing of the fossa ovalis, LASH has a pathognomonic dumbbell shape. LASH may be mistaken for various tumors of the interatrial septum. Histologically, LASH is composed of both mature and brown (fetal) adipose tissue, but the role of brown adipose tissue remains unclear. In interventional procedures requiring access to the left atrium, LASH may interfere with transseptal puncture, as traversing the thickened area can reduce the maneuverability of catheters and devices. This may cause the needle to enter the epicardial space, causing dangerous pericardial effusions. LASH was once considered a contraindication to percutaneous device closure of atrial septal defects because of an associated increased risk for incorrect device deployment. However, careful attention to preprocedural imaging and procedural intracardiac echocardiography enable interventional cardiologists to perform procedures in patients with LASH without serious complications. In this review article, the authors describe anatomic and functional aspects of LASH, with emphasis on their roles in percutaneous interventions. PMID:27288088

  2. 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. PMID:21358383

  3. 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

  4. Muscle imaging data in late-onset Pompe disease reveal a correlation between the pre-existing degree of lipomatous muscle alterations and the efficacy of long-term enzyme replacement therapy

    PubMed Central

    Gruhn, Kai Michael; Heyer, Christoph Malte; Güttsches, Anne-Katrin; Rehmann, Robert; Nicolas, Volkmar; Schmidt-Wilcke, Tobias; Tegenthoff, Martin; Vorgerd, Matthias; Kley, Rudolf Andre

    2015-01-01

    Background Late-onset Pompe disease (LOPD) is a metabolic myopathy caused by mutations in GAA and characterized by proximal muscle weakness and respiratory insufficiency. There is evidence from clinical studies that enzyme replacement therapy (ERT) with human recombinant alpha-glucosidase improves motor performance and respiratory function in LOPD. Objective We analyzed quantitative muscle MRI data of lower limbs to evaluate the effects of long-term ERT on muscle parameters. Methods Three symptomatic LOPD patients who received ERT for five years and four untreated presymptomatic LOPD patients were included in the study. T1-weighted MRI images were used to determine volumes of thigh and lower leg muscles. In addition, mean gray values of eight individual thigh muscles were calculated to assess the degree of lipomatous muscle alterations. Results We detected a decrease in thigh muscle volume of 6.7% (p < 0.001) and an increase in lower leg muscle volume of 8.2% (p = 0.049) after five years of ERT. Analysis of individual thigh muscles revealed a positive correlation between the degree of lipomatous muscle alterations at baseline and the increase of gray values after five years of ERT (R2 = 0.68, p < 0.001). Muscle imaging in presymptomatic patients showed in one case pronounced lipomatous alteration of the adductor magnus muscle and mild to moderate changes in further thigh muscles. Conclusions The results demonstrate that fatty muscle degeneration can occur before clinical manifestation of muscle weakness and suggest that mildly affected muscles may respond better to ERT treatment than severely involved muscles. If these findings can be validated by further studies, it should be discussed if muscle alterations detected by muscle MRI may be an objective sign of disease manifestation justifying an early start of ERT in clinically asymptomatic patients in order to improve the long-term outcome. PMID:26937398

  5. 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. PMID:26297066

  6. Renal proximal tubular dysgenesis associated with severe neonatal hemosiderotic liver disease.

    PubMed

    Bale, P M; Kan, A E; Dorney, S F

    1994-01-01

    We report the necropsy findings for three infants with the unusual combination of proximal renal tubular dysgenesis and severe congenital liver disease with excessive iron in several organs resembling neonatal hemochromatosis. Two of the infants were caucasian siblings and one was an Australian aborigine. One died in utero at 35 weeks of gestation and two died at 7 days. The liveborn infants presented with anuria and liver failure. The livers all showed marked loss of hepatocytes and replacement by pseudotubules in the collapsed lobules. The liveborn infants also showed giant cell transformation of hepatocytes, small regenerative nodules, cholestasis, and normal bile ducts. Absence of proximal renal convolutions was confirmed by epithelial membrane antigen positivity in nearly all tubules. In each family there was another sibling with congenital liver disease, fatal in one case, but no renal tubular dysgenesis. No infection or metabolic disease was uncovered in any of our patients, and the cause of the hepatocyte destruction was not determined. The combination in three infants of two rare congenital diseases could be genetic or acquired in utero from the same etiological agent. Alternatively, the absence of proximal convolutions could be secondary to hypoperfusion, perhaps because of shock due to extensive necrosis of hepatocytes. PMID:8066004

  7. 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. PMID:27063472

  8. Lipomatous disorder of the peri-trochanteric soft tissue: case report and review.

    PubMed

    Goshtasby, Parviz; Brooks, Glen; Fielding, L Peter

    2006-01-01

    Disorders of fatty tissue metabolism and body contour are frequently described in the literature. Several different syndromes have been ascribed to recurring characteristics of fatty deposition with similar underlying etiologies. These syndromes can generally be classified into the lipomatoses (abnormal accumulations of fat) and the lipodystrophies (abnormal fat atrophy). The authors describe a case of isolated symmetrical lipomatosis of the soft tissue overlying the trochanters that developed a recurrence after treatment with liposuction. They have attempted to match this patient's disorder into 1 of several reported syndromes, with benign symmetric lipomatosis and acquired partial lipodystrophy at the top of the differential diagnosis. However, some characteristics of this patient may warrant a separate categorization for her condition. In this case report, the current literature on disorders of fatty tissue metabolism is reviewed and a discussion of relevant factors and issues surrounding their clinical significance and management is provided. PMID:16971206

  9. Bannayan-Riley-Ruvalcaba syndrome with deforming lipomatous hamartomas in infant--case report.

    PubMed

    Gontijo, Gabriela Maria Abreu; Pinto, Clóvis Antonio Lopes; Rogatto, Silvia Regina; Cunha, Isabela Werneck da; Aguiar, Samuel; Alves, Célia Antônia Xavier de Moraes

    2013-01-01

    Bannayan-Riley-Ruvalcaba Syndrome is a rare condition caused by mutations in the PTEN gene. It displays association of multiple lipomas, macrocephaly, hemangiomas, hamartomatous intestinal polyposis, developmental delay and speckled pigmented maculae on the male genitalia. We report the case of a nine-month-old boy who had fast growing and progressive tumors for three months, macrocephaly and lentigines on the penis. Imaging tests showed extensive lipomatosis with invasion of paraspinal muscles, enlargement of the spinal canal and spinal cord compression; after surgical excision of the mass, the pathology was consistent with lipoma. Adipocyte culture karyotype demonstrated PTEN mutation. We present this case for its rarity and exuberance. PMID:24474112

  10. Desmoplastic Melanocytic Nevus of Oral Mucosa.

    PubMed

    Damm, Douglas D; Fowler, Craig B; Schmidt, David P

    2016-09-01

    The desmoplastic melanocytic nevus is an uncommon variant that easily may be confused with a fibrohistiocytic neoplasm or a desmoplastic melanoma. It is believed that the following report describes the first known example of a desmoplastic melanocytic nevus arising in the oral mucosa. The histopathologic and immunohistochemical features that allow separation from other microscopically similar pathoses are stressed. PMID:26747459

  11. Soft tissue tumors of the head and neck.

    PubMed

    Katenkamp, D

    1987-01-01

    From the tumor register of the Institute of Pathology of Jena all soft tissue tumors of the head and neck collected between 1959 and 1984 were retrieved and reclassified. 562 out of 646 tumors (87%) were benign. Three quarter of these growths could be diagnosed as nerve sheath tumors (schwannomas and neurofibromas), hemangiomas, fibrohistiocytic tumors and lipomas. 84 tumors were malignant (13%). As the most frequent subtypes we found fibrohistiocytic sarcomas (malignant fibrous histiocytomas and atypical fibroxanthomas), muscularly differentiated sarcomas (rhabdo- and leiomyosarcomas) and unclassified sarcomas. The age and sex distribution as well as the localization and histologic peculiarities were analysed and compared with findings reported in the literature. The significance of knowing such data for diagnostic and differential diagnostic considerations is stressed and exemplified. PMID:3592924

  12. 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

    2016-09-12

    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

  13. A Challenging Giant Dermatofibrosarcoma Protuberans on the Face

    PubMed Central

    Pérez, Gimena Castro; Arias, Cintia; Luna, Paula; Sorín, Irene

    2016-01-01

    Dermatofibrosarcoma protuberans (DFSP) is a malignant fibrohistiocytic tumor that appears exclusively on the skin. It is a low-grade malignant soft tissue tumor of subcutaneous tissues that has a propensity for local recurrence but seldom metastasizes. It may rarely occur on the head and neck accounting for less than one percent of total head and neck malignancies. We present a man with a giant DFSP on the face. Oncological, functional, and aesthetic aspects are set forth. PMID:27437151

  14. Lipomatosis coli, a mimicker of familial polyposis.

    PubMed

    Zarrin-Khameh, Neda; Haas, Eric M; Ro, Jae; Thrall, Michael J

    2013-04-01

    Multiple intestinal lipomas (lipomatous polyposis) are quite rare, and they can be quite challenging to diagnose because this condition may be clinically confused with familial adenomatous polyposis with a suggestive family history. Herein, we present a case of lipomatous polyposis that was presented with abdominal pain and, in colonoscopy, had more than 100 polyps. The patient was admitted for surgery with diagnosis of familial polyposis. Resected colon specimen had multiple polyps ranging from 0.1 to 1.5 cm. Microscopically, the polyps were composed of mature adipose tissue with normal overlying mucosa. There were also increased fat cells in the submucosa of the colon adjacent to the polyps. Lipomatous polyposis rarely occurs and can be confused with familial polyposis. Polypectomy is a simple and cost-effective procedure to help in diagnosis and prevent a major surgery. PMID:22056034

  15. 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

  16. 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

  17. 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

  18. 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. PMID:24659226

  19. Intramuscular myxoma of the deltoid muscle: report of a case

    PubMed Central

    Costamagna, Daniela; Erra, Stefania; Durando, Riccardo

    2009-01-01

    Intramuscular myxoma is a rare, benign lesion of mesenchymal origin, affecting the skeletal muscles. We report the case of a 75-year-old woman presenting with a mass of the right deltoid region. On the MRI examination it was interpreted as a lipomatous lesion. She underwent marginal excision. The pathological examination revealed the diagnosis of intramuscular myxoma. PMID:21686685

  20. Differential diagnosis of malignant tumours in the abdominal cavity of rats after intraperitoneal injection of crocidolite or benzo[a]pyrene.

    PubMed

    Friemann, J; Varnai, M; Sutter, C; Hohr, B; Behrens, A; Althoff, G H; Schilpkoter, H W

    1996-01-01

    In our investigation (i.p. test), crocidolite and benzo[a]pyrene, both caused a progression from initially reactive, then autonomously transformed proliferation of myofibroblasts and undifferentiated mesenchymal cells to malignant, multidirectionally differentiated (desmin and ED-1 positive) fibro-histiocytic tumours. Immunohistochemically these tumours showed no morphological characteristics (for example co-expression of vimentin and keratin in spindle-shaped tumour cells) of human asbestos-associated malignant mesotheliomas. On the other hand many tumour cells induced by crocidolite and benzo[a]pyrene had an ultrastructural appearance resembling fibroblasts and myofibroblasts. These have been demonstrated in only a few desmoplastic and sarcomatous mesotheliomas in human beings. None of the tumours revealed the typical ultrastructural features of epitheloid or transitional mesotheliomas. Apparently, both carcinogenic substances induce the transformation of undifferentiated pluripotent mesenchymal cells in rat peritoneum, regardless of their localization in the submesothelial compartment or perivascular connective tissue (preferentially after crocidolite application) or in the connective tissue pseudocapsule of major benzo[a]pyrene containing beeswax/tricaprylin depots in the mesometrium and mesenterial fatty tissue. In this way asbestos fibres in this animal experiment do not seem to induce an arrest in differentiation of intermediate or immature mesothelial cells as supposed formerly, but rather affect undifferentiated mesenchyme cells and myofibroblasts. This is an explanation for the immunohistochemical expression of markers of muscular differentiation in these tumour cells, which is known to occur in human malignant fibro-histiocytic tumours. If supplementary immunohistochemical investigations with different keratin antibodies also fail to confirm the mesothelial differentiation of the tumours induced in our i.p. test, the decision to call them "mesotheliomas

  1. Inflammatory Myofibroblastic Tumour of Thyroid with its Prominent Spindle Cell Pattern: A Rare Case Report

    PubMed Central

    Marylilly, S.; Ramya, V.

    2016-01-01

    Inflammatory myofibroblastic tumour of thyroid is very rare. Only 18 cases reported so far. Here we report a case of Inflammatory myofibroblastic tumour with its prominent spindle cell (fibrohistiocytic) pattern in a 61-year-old male patient. The dominant histological pattern in our case was myofibroblastic in contrast to prominent lymphoplasmocytic pattern in other previously reported cases. The tumour was strongly positive for vimentin, Anaplastic lymphoma kinase and showed focal positivity for Smooth Muscle Actin. The patient was treated with total thyroidectomy and he is comfortable after surgery. PMID:27190815

  2. Pure uterine lipoma.

    PubMed

    Erdem, Gulnur; Celik, Onder; Karakas, Hakki Muammer; Alkan, Alpay; Hascalik, Seyma

    2007-10-01

    Lipomatous tumors of the uterus are unusual, benign neoplasms seen in postmenopausal women. Although many of the mixed-type cases such as lipoleiomyoma and fibrolipoma have been reported, pure uterine lipomas are extremely rare. In the literature, a few cases with pure uterine lipoma have been reported. We first present the advanced magnetic resonance findings of pure uterine lipoma, followed by those of ultrasonography (US) and computed tomography (CT). We markedly detected lipid peaks on the magnetic resonance spectroscopy (MRS) and the apparent diffusion coefficient value to be 0.00 due to chemical-shift effects with diffusion-weighted imaging (DWI). Although pelvic lipomatous tumors can be diagnosed with US and CT, in some cases, further workup may be required to localize the lesion. MRI may yield more valuable data for differential diagnosis. MRS and DWI findings provide additional clues on the nature of the lesion. PMID:17905250

  3. In vivo MRI characteristics of lipoma arborescens utilizing fat suppression and contrast administration

    SciTech Connect

    Chaljub, G.; Johnson, P.R.

    1996-01-01

    Lipoma arborescens or villous lipomatous proliferation of the synovium is a rare lesion. We describe the in vivo imaging characteristics of lipoma arborescens of the knee utilizing fat suppression techniques and contrast medium administration. As expected, the lesion demonstrated signal loss when utilizing fat suppression. In addition, no contrast enhancement was noted. When a synovial process demonstrates isointensity with subcutaneous fat on all pulse sequences and no contrast enhancement, lipoma arborescens should be the primary diagnosis consideration. 7 refs., 4 figs.

  4. Lipoma arborescens of the knee: report of a case managed by arthroscopic synovectomy.

    PubMed

    Franco, Michel; Puch, J M; Carayon, M J; Bortolotti, D; Albano, Laetitia; Lallemand, A

    2004-01-01

    We report a case of lipoma arborescens treated with an arthroscopic procedure. Lipoma arborescens is an uncommon pseudo-tumoral synovial lesion usually located in the suprapatellar pouch of the knee. This diagnosis should be considered, particularly in patients with chronic joint effusion. Magnetic resonance imaging confirms the lipomatous nature of the synovial proliferation. When limited to the anterior compartment of the knee, lipoma arborescens can be treated by arthroscopic synovectomy. PMID:14769527

  5. A surgical view on the treatment of Madelung's disease.

    PubMed

    Sharma, N; Hunter-Smith, D J; Rizzitelli, A; Rozen, W M

    2015-10-01

    Benign symmetrical lipomatosis (Madelung's disease) is a rare condition of unclear aetiology characterized by numerous, unencapsulated lipomatous deposits. The only effective treatment is by surgical intervention; however, there is no consensus in the optimal approach. We present the case of a patient who required staged, multi-modality treatment to achieve disease quiescence. The case highlights the usefulness of magnetic resonance imaging as a tool for assessment as well as preoperative planning. PMID:26246230

  6. Multiple symmetric lipomatosis.

    PubMed

    Lee, M S; Lee, M H; Hur, K B

    1988-12-01

    Multiple symmetric lipomatosis (MSL) is an extremely uncommon disorder. In the medical literatures about 200 cases have been reported. MSL is not associated with other generalized lipomatous disorders, nor are these patient to be necessarily obese. The cause of MSL is unknown. The disorder usually occurs in middle-aged males and there is frequently a history of alcoholism. Some instances of familial occurrence have been reported, but the majority of cases are sporadic. Two cases of MSL are presented. PMID:3267365

  7. Giant ileocolic intussusception in an adult induced by a double ileal lipoma: a case report with pathologic correlation.

    PubMed

    Kraniotis, Pantelis; Pastromas, Georgios; Tsota, Irene; Patsoura, Maria; Petsas, Theodore

    2016-09-01

    Intussusception in adults is rare, accounting for less than 5% of all cases. Unlike the childhood variant, adult intussusception is often associated with a small bowel lesion acting as the "lead point." We herein report an uncommon case of giant intussusception secondary to 2 separate lipomatous lesions located in the ileum, in an adult admitted to our hospital for acute severe abdominal pain. PMID:27594938

  8. Recurrent bleeding of angiomyolipomas in tuberous sclerosis.

    PubMed

    Chatterjee, T; Heindel, W; Vorreuther, R; Engelmann, U; Lackner, K

    1996-01-01

    The diagnostic and therapeutic problems of renal hamartomas are illustrated by a case of recurrence of bleeding angiomyolipomas associated with tuberous sclerosis. Ultrasound and computed tomography provide clear evidence of lipomatous formation while, in rare instances, angiography can demonstrate the existence of multiple vascular tumor compartments. In view of the risk of bleeding, multiple or very large angiomyolipomas should be treated by interventional radiology in the form of superselective tumor embolization or by the most conservative surgery possible. PMID:8903555

  9. Spectrum of Fat-containing Soft-Tissue Masses at MR Imaging: The Common, the Uncommon, the Characteristic, and the Sometimes Confusing.

    PubMed

    Gupta, Pushpender; Potti, Tommy A; Wuertzer, Scott D; Lenchik, Leon; Pacholke, David A

    2016-01-01

    Fat-containing tumors are the most common soft-tissue tumors encountered clinically. The vast majority of fat-containing soft-tissue masses are benign. Lipomas are the most common benign fat-containing masses and demonstrate a characteristic appearance at magnetic resonance (MR) imaging. Less common benign soft-tissue masses include lipoblastoma, angiolipoma, spindle cell lipoma/pleomorphic lipoma, myolipoma, chondroid lipoma, lipomatosis of nerve, lipomatosis, hibernoma, and fat necrosis. Well-differentiated liposarcomas (WDLPSs)/atypical lipomatous tumors (ALTs) are locally aggressive soft-tissue masses that do not metastasize. Biologically more aggressive liposarcomas include myxoid, pleomorphic, and dedifferentiated liposarcomas. At MR imaging, lipomas typically resemble subcutaneous fat but may contain a few thin septa. The presence of thick, irregular, enhancing septa and nonfatty soft-tissue mass components suggests liposarcoma rather than lipoma. However, benign lipomatous lesions and WDLPS/ALT often have overlapping MR imaging findings. Distinguishing WDLPS/ALT from a benign lipomatous lesion or from fat necrosis at imaging can be challenging and often requires histologic evaluation. We present the spectrum of fat-containing masses, using the World Health Organization classification of adipocytic tumors, with an emphasis on commonly encountered lesions, characteristic MR imaging findings associated with specific tumors, and overlapping MR imaging findings of certain tumors that may require histologic sampling. We also briefly discuss the role of molecular markers in proper characterization and classification of fat-containing soft-tissue masses. (©)RSNA, 2016. PMID:27163592

  10. Cerebellar liponeurocytoma: a rare intracranial tumor with possible familial predisposition. Case report.

    PubMed

    Wolf, Amparo; Alghefari, Huda; Krivosheya, Daria; Staudt, Michael D; Bowden, Gregory; Macdonald, David R; Goobie, Sharan; Ramsay, David; Hebb, Matthew O

    2016-07-01

    The biological origin of cerebellar liponeurocytomas is unknown, and hereditary forms of this disease have not been described. Here, the authors present clinical and histopathological findings of a young patient with a cerebellar liponeurocytoma who had multiple immediate family members who harbored similar intracranial tumors. A 37-year-old otherwise healthy woman presented with a history of progressive headaches. Lipomatous medulloblastoma had been diagnosed previously in her mother and maternal grandfather, and her maternal uncle had a supratentorial liponeurocytoma. MRI revealed a large, poorly enhancing, lipomatous mass emanating from the superior vermis that produced marked compression of posterior fossa structures. An uncomplicated supracerebellar infratentorial approach was used to resect the lesion. Genetic and histopathological analyses of the lesion revealed neuronal, glial, and lipomatous differentiation and confirmed the diagnosis of cerebellar liponeurocytoma. A comparison of the tumors resected from the patient and, 22 years previously, her mother revealed similar features. Cerebellar liponeurocytoma is a poorly understood entity. This report provides novel evidence of an inheritable predisposition for tumor development. Accurate diagnosis and reporting of clinical outcomes and associated genetic and histopathological changes are necessary for guiding prognosis and developing recommendations for patient care. PMID:26613167

  11. Dermatofibroma: Atypical Presentations.

    PubMed

    Bandyopadhyay, Mousumi Roy; Besra, Mrinal; Dutta, Somasree; Sarkar, Somnath

    2016-01-01

    Dermatofibroma is a common benign fibrohistiocytic tumor and its diagnosis is easy when it presents classical clinicopathological features. However, a dermatofibroma may show a wide variety of clinicopathological variants and, therefore, the diagnosis may be difficult. The typical dermatofibroma generally occurs as a single or multiple firm reddish-brown nodules. We report here two atypical presentations of dermatofibroma - Atrophic dermatofibroma and keloidal presentation of dermatofibroma. Clinical dermal atrophy is a common phenomenon in dermatofibromas as demonstrated by the dimpling on lateral pressure. However, this feature is exaggerated in the atrophic variant of dermatofibroma. Atrophic dermatofibroma is defined by dermal atrophy of more than 50% of the lesion apart from the usual features of common dermatofibroma. The keloidal variant of dermatofibroma should not be overlooked as a simple keloid. The findings of keloidal change in dermatofibromas may support that trauma is a possible cause of dermatofibroma. PMID:26955137

  12. 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

  13. Dermatofibroma: Atypical Presentations

    PubMed Central

    Bandyopadhyay, Mousumi Roy; Besra, Mrinal; Dutta, Somasree; Sarkar, Somnath

    2016-01-01

    Dermatofibroma is a common benign fibrohistiocytic tumor and its diagnosis is easy when it presents classical clinicopathological features. However, a dermatofibroma may show a wide variety of clinicopathological variants and, therefore, the diagnosis may be difficult. The typical dermatofibroma generally occurs as a single or multiple firm reddish-brown nodules. We report here two atypical presentations of dermatofibroma - Atrophic dermatofibroma and keloidal presentation of dermatofibroma. Clinical dermal atrophy is a common phenomenon in dermatofibromas as demonstrated by the dimpling on lateral pressure. However, this feature is exaggerated in the atrophic variant of dermatofibroma. Atrophic dermatofibroma is defined by dermal atrophy of more than 50% of the lesion apart from the usual features of common dermatofibroma. The keloidal variant of dermatofibroma should not be overlooked as a simple keloid. The findings of keloidal change in dermatofibromas may support that trauma is a possible cause of dermatofibroma. PMID:26955137

  14. Variants of dermatofibroma - a histopathological study*

    PubMed Central

    Alves, João Vítor Pina; Matos, Diogo Miguel; Barreiros, Hugo Frederico; Bártolo, Elvira Augusta Felgueira Leonardo Fernandes

    2014-01-01

    Several variants of dermatofibroma have been described. They are essentially distinguished by their clinical and histopathological features. To review the mainfeaturesof these variants, a retrospective study of skin biopsies and tissue excisions of dermatofibromasperformed in the dermatology and venereology service at the Hospital Garcia de Orta between May 2007 and April 2012 was carried out. During that period, 192 dermatofibromas were diagnosed in 181 patients, the lesions being more common in women. Median age of the study population was 48 years. The most common lesion site was the limbs (74% of patients). The histopathological types found were common fibrous histiocytoma (80%) and the aneurysmal (5.7%),hemosiderotic (5.7%), epithelioid (2.6%), cellular (2.1%), lipidized (2.1%), atrophic (1.0) and clear cell (0.5%) variants. Based on these findings, this review focuses on the clinical and histological features of the various variants of dermatofibroma in terms of their clinical presentation, distinct histopathological features, differential diagnosis and prognosis. PMID:24937822

  15. Iron overload of spleen, liver and kidney as a consequence of hemolytic anaemia.

    PubMed

    Solecki, R; von Zglinicki, T; Müller, H M; Clausing, P

    1983-01-01

    Iron overload in spleen, liver and kidney induced by hemolytic anaemia due to a 90-day oral exposure of rats to diuron (N-3,4-dichlorphenyl-N,N-dimethylurea), an urea herbicide, was studied by histochemistry, transmission electronmicroscopy, morphometry and energy dispersive X-ray microanalysis. Increasing dosages of diuron provoked a hemosiderosis in the spleen followed by erythrocytic sequestration and the formation of haemopoietic foci coinciding with Kupffer cell siderosis of the liver. A strong enlargement of the spleen red pulp on the one hand faces an unchanged total white pulp volume as well as no alterations of the white pulp microscopic structure on the other. The electron dense bodies of the endothelial cells did not contain iron whereas hepatocytes possess two types of lysosomes, homogeneous iron containing ones at the sinusoidal site and complex structured ones without detectable iron at the biliary site. The formation of the homogeneous lysosomes is suggested to be due to the hepatocytic reception of hemoglobin-haptoglobin-complexes after intravascular hemolysis. The lysosomes of the biliary site seem to be engaged in hemoglobin degradation. A partial nephrohydrosis due to hemosiderotic events in succession of intravascular hemolysis including hemoglobin reabsorption from the primary urine could be observed. It is assumed that exocytosis might play a major role in hemosiderin removal from kidney tubule cells. PMID:6683665

  16. Pleomorphic hyalinizing angiectatic tumor of soft parts: case report with unusual ganglion-like cells and review of the literature.

    PubMed

    Changchien, Yi-Che; Bocskai, Pál; Kovács, Ilona; Hargitai, Zoltán; Kollár, Sándor; Török, Miklós

    2014-12-01

    Pleomorphic hyalinizing angiectatic tumor (PHAT) is a recently described, non-metastasizing tumor of uncertain lineage. This tumor distributes equally between the genders and has a predilection for the subcutaneous soft tissue, particularly in lower extremity, other locations are rare. Based on the recent literature, PHAT is suspected to encompass the morphological spectrum with other tumors such as myxoinflammatory fibroblastic sarcoma (MIFS) and hemosiderotic fibrolipomatous tumor (HFLT), although cytogenetic data remain inconsistent. We report a case of PHAT that arose in the upper arm with unusual morphology which showed ganglion-like cells similar to Reed-Sternberg-like cells found in MIFS. The tumor had strong immunohistochemical expression of CD34, CD99, and was negative for S-100. The ganglion-like cells were positive for both CD34 and CD68 but negative for CD30. The translocation between chromosome 1 and 10, a frequent finding of MIFS and HFLT, was not identified by FISH excluding the possibility of hybrid PHAT and MIFS. We conclude FISH can be a potential useful tool to separate PHAT with atypical morphology from hybrid tumor in doubted cases. Due to the rarity of PHAT and lack of consistent pathogenetic signatures, more cases and further studies will be needed to elucidate the pathogenesis and nature of this tumor. PMID:24857338

  17. Identification of COL3A1 and RAB2A as novel translocation partner genes of PLAG1 in lipoblastoma.

    PubMed

    Yoshida, Hideki; Miyachi, Mitsuru; Ouchi, Kazutaka; Kuwahara, Yasumichi; Tsuchiya, Kunihiko; Iehara, Tomoko; Konishi, Eiichi; Yanagisawa, Akio; Hosoi, Hajime

    2014-07-01

    Lipoblastoma is a rapidly growing, benign neoplasm in children. Surgical excision is usually curative, with a recurrence rate of about 20%. Because the histology of lipoblastoma is heterogeneous and overlaps with other lipomatous tumors, some lipoblastoma cases have been difficult to diagnose. The detection of PLAG1 gene rearrangement is useful for the diagnosis of lipoblastoma. Three fusion partner genes are known in relation to PLAG1 in lipoblastoma HAS2 at 8q24.1, COL1A2 at 7q22, and RAD51L1 at 14q24. Herein, we describe another two novel fusion genes in lipoblastoma tumor specimens. We checked six tumors for the presence of two known fusion genes, HAS2-PLAG1 and COL1A2-PLAG1. Only HAS2-PLAG1 was found in one of the cases. Next, we attempted to identify potential PLAG1 fusion partners using 5'RACE. Sequence analysis revealed two novel fusion genes, COL3A1-PLAG1 in three cases and RAB2A-PLAG1 in one case, respectively. As a result of the translocations, the constitutively active promoter of the partner gene drives the ectopic expression of PLAG1. We also evaluated whether a high level of PLAG1 expression can be used to help differentiate lipomatous tumors. PLAG1 expression was evaluated by real-time PCR in five lipoblastoma tumor specimens. The expressions were 70-150 times higher in lipoblastomas than in human adipocytes. However, PLAG1 expression was low in one case of lipoma. These results demonstrate that PLAG1 overexpression is a potential marker of lipoblastoma. Our findings, in agreement with previous studies, show that lipoblastoma is a group of lipomatous tumors with PLAG1 rearrangement and overexpression. © 2014 Wiley Periodicals, Inc. PMID:24700772

  18. Cervical hibernoma in a two year old boy.

    PubMed

    Khattala, Khalid; Elmadi, Aziz; Bouamama, Hanane; Rami, Mohamed; Bouabdallah, Youssef

    2013-01-01

    Hibernomas are uncommon benign soft tissue tumours mimicking brown fat. They are mostly seen in the fourth and fifth decades of life. Only few cases in the cervical area have been reported. Because of its rarity in pediatrics and difficult diagnosis, we report a tow year-old patient with a cervical tumor. Ultrasound and computed tomography exams showed an infiltrative, with hypervascular and lipomatous features. After tumor excision, histopathological exam confirmed the diagnosis of hibernoma or brown fat tumor. This presentation describes the characteristics of this type of tumor, rare in children. PMID:24570788

  19. Liposarcoma of the maxillary antrum: A case report.

    PubMed

    Priyal, G; Shakil, Moidin; Jose, Maji; Hussain, Akther

    2015-01-01

    Atypical Lipomatous Tumor/Well-Differentiated Liposarcoma. (ALT/WDL) is a soft tissue sarcoma of intermediate malignant behavior, which most frequently affects the retroperitoneum and lower extremities. Liposarcomas of head and neck are rare, representing only 2-8% of all sarcomas in this region. The majority of liposarcomas occur in middle-aged adults; however, very uncommonly cases have been reported in infancy and early childhood. We report a case of a 14-year-old girl diagnosed as ALT/WDL of the maxillary antrum. PMID:26881583

  20. Madelung disease : report of a case and review of the literature.

    PubMed

    Celentano, V; Esposito, E; Perrotta, S; Giglio, M C; Tarquini, R; Luglio, G; Bucci, L

    2014-01-01

    Madelung disease is a rare disorder characterized by the presence of multiple, symmetric, nonencapsulated fatty accumulations diffusely involving the cheeks, the neck, the upper trunk, the shoulder girdle area, and the upper extremities. The cause of this syndrome is unknown, but it has been associated with alcoholism in 60% to 90% of -patients. The long-term lipomatous deposits are often large and cosmetically deforming, and the upper aerodigestive tract and great veins may be compressed. We report the case of a man with MD, involving the cervical and upper dorsal -regions, who underwent surgical treatment at our Department. PMID:26021689

  1. Radiologic findings in the Proteus syndrome.

    PubMed

    Azouz, E M; Costa, T; Fitch, N

    1987-01-01

    The radiological findings in two patients with the Proteus syndrome are described. Features in our two cases not previously mentioned or stressed include vertebral dysplasia and enlargement (megaspondylodysplasia), bilateral genu valgum, recurrent after surgery and intraabdominal and mesenteric lipomatosis. Emergency laparotomy was performed on the first patient who had a twisted necrotic portion of mesenteric fat. Macrodactyly, skeletal muscle atrophy and subcutaneous fat accumulation in the abdominal wall were present in both. In addition the second patient was mentally retarded and had frontal bony prominence of skull. Computed tomography was used for the specific diagnosis of the lipomatous tissues in both patients. PMID:3684361

  2. Spindle cell lipoma of the tongue: A case report of unusual occurrence

    PubMed Central

    Júnior, Orlando Cavezzi; de Aguiar, Eduardo Castro Guerra; Sartori, José Henrique França; Lima, Flavio de Oliveira

    2013-01-01

    Spindle cell lipoma (SCL) is a benign lipomatous tumor predominantly occurring at the posterior neck and shoulder area. Face, forehead, scalp, cheek, perioral area, and upper arm are less common sites. In oral cavity, it is a relatively uncommon neoplasm, particularly in tongue, which is relatively devoid of fat cells. We present a case report of SCL located on the left lateral border of the tongue in a 64-year-old Caucasian female patient with diabetes mellitus type 2 and arterial hypertension. PMID:23798855

  3. A case of encephalocraniocutaneous lipomatosis syndrome with epilepsy (Haberland syndrome).

    PubMed

    Zahariev, Zahari Iv; Peycheva, Marieta V; Dobrev, Hristo P

    2009-01-01

    Encephalocraniocutaneous lipomatosis is a rare congenital neurocutaneous syndrome characterized by scalp, facial, and ocular lesions and multiple intracranial malformations. Approximately 50 cases have been described in the literature. We report a 34-year-old woman with a 6-year history of epilepsy, without mental retardation, with predominantly ipsilateral skin lesions evident at birth, with limbal lipodermoid of the left eye and multiple non-progressive, ipsilateral intracranial structures of soft, cystic components. The described malformations are congenital, mostly unilaterally located and with similar lipomatous structure. PMID:20232658

  4. Identical twins with lumbosacral lipomyelomeningocele.

    PubMed

    Hanaei, Sara; Nejat, Farideh; Mortazavi, Abolghasem; Habibi, Zohreh; Esmaeili, Arash; El Khashab, Mostafa

    2015-01-01

    Lipomyelomeningocele, a congenital spine defect, is presented as skin-covered lipomatous tissue that attaches to the cord in different ways according to its subtypes. Unlike other types of neural tube defects, the exact cause of this birth defect has not been confirmed yet, but it is proposed to be a multifactorial disease with involvement of both genetic and environmental factors. The authors describe identical twins with lipomyelomeningocele of the same subtype and location without any familial history of similar abnormality. Therefore, the same genetic and/or environmental risk factors could have played a part in their condition. PMID:25396701

  5. 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

  6. Combined Liposuction and Excision of Lipomas: Long-Term Evaluation of a Large Sample of Patients

    PubMed Central

    Copeland-Halperin, Libby R.; Pimpinella, Vincenza

    2015-01-01

    Background. Lipomas are benign tumors of mature fat cells. They can be removed by liposuction, yet this technique is seldom employed because of concerns that removal may be incomplete and recurrence may be more frequent than after conventional excision. Objectives. We assessed the short- and long-term clinical outcomes and recurrence of combined liposuction and limited surgical excision of subcutaneous lipomas. Methods. From 2003 to 2012, 25 patients with 48 lipomas were treated with liposuction followed by direct excision through the same incision to remove residual lipomatous tissue. Initial postoperative follow-up ranged from 1 week to 3 months, and long-term outcomes, complications, and recurrence were surveyed 1 to 10 years postoperatively. Results. Lipomas on the head, neck, trunk, and extremities ranged from 1 to 15 cm in diameter. Early postoperative hematoma and seromas were managed by aspiration. Among 23 survey respondents (92%), patients were uniformly pleased with the cosmetic results; none reported recurrent lipoma. Conclusions. The combination of liposuction and excision is a safe alternative for lipoma removal; malignancy and recurrence are uncommon. Liposuction performed through a small incision provides satisfactory aesthetic results in most cases. Once reduced in size, residual lipomatous and capsular tissue can be removed without expanding the incision. These favorable outcomes support wider application of this technique in appropriate cases. PMID:25694827

  7. [Benign symmetrical lipomatosis with predominant localization in the neck area (Madelung's disease)].

    PubMed

    Topalo, V M

    1992-03-01

    Eighty-eight males with benign symmetrical lipomatosis (BSL) were subjected to complex examination, 68 of them were operated on. BSL is a slowly progressing disease marked by the development of nonencapsulated symmetrical fatty masses mainly in the region of the neck. It usually occurs in males at the age of 35-50 years. Chronic alcoholic intoxication was found in 46 (48%) patients, 36 (41%) patients had various functional disorders which caused invalidation in 5 (5.7%) cases. A familial character of the disease was revealed in four (4.5%) cases. A classification of the disease is suggested which takes into account the functional disorders and the degree of development of the lipomatous masses in the neck. The author discusses the stages of the treatment, the surgical anatomy, a method for revealing the salivary glands in the lipomatous tissue by staining them with methylene blue solution, the operative techniques, the complications and their prevention, and the late results of surgical treatment. Satisfactory esthetic and functional results were achieved in 94.2% of patients who were operated on. PMID:1434360

  8. 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

  9. Combined liposuction and excision of lipomas: long-term evaluation of a large sample of patients.

    PubMed

    Copeland-Halperin, Libby R; Pimpinella, Vincenza; Copeland, Michelle

    2015-01-01

    Background. Lipomas are benign tumors of mature fat cells. They can be removed by liposuction, yet this technique is seldom employed because of concerns that removal may be incomplete and recurrence may be more frequent than after conventional excision. Objectives. We assessed the short- and long-term clinical outcomes and recurrence of combined liposuction and limited surgical excision of subcutaneous lipomas. Methods. From 2003 to 2012, 25 patients with 48 lipomas were treated with liposuction followed by direct excision through the same incision to remove residual lipomatous tissue. Initial postoperative follow-up ranged from 1 week to 3 months, and long-term outcomes, complications, and recurrence were surveyed 1 to 10 years postoperatively. Results. Lipomas on the head, neck, trunk, and extremities ranged from 1 to 15 cm in diameter. Early postoperative hematoma and seromas were managed by aspiration. Among 23 survey respondents (92%), patients were uniformly pleased with the cosmetic results; none reported recurrent lipoma. Conclusions. The combination of liposuction and excision is a safe alternative for lipoma removal; malignancy and recurrence are uncommon. Liposuction performed through a small incision provides satisfactory aesthetic results in most cases. Once reduced in size, residual lipomatous and capsular tissue can be removed without expanding the incision. These favorable outcomes support wider application of this technique in appropriate cases. PMID:25694827

  10. Labile iron in cells and body fluids: physiology, pathology, and pharmacology

    PubMed Central

    Cabantchik, Zvi Ioav

    2014-01-01

    In living systems iron appears predominantly associated with proteins, but can also be detected in forms referred as labile iron, which denotes the combined redox properties of iron and its amenability to exchange between ligands, including chelators. The labile cell iron (LCI) composition varies with metal concentration and substances with chelating groups but also with pH and the medium redox potential. Although physiologically in the lower μM range, LCI plays a key role in cell iron economy as cross-roads of metabolic pathways. LCI levels are continually regulated by an iron-responsive machinery that balances iron uptake versus deposition into ferritin. However, LCI rises aberrantly in some cell types due to faulty cell utilization pathways or infiltration by pathological iron forms that are found in hemosiderotic plasma. As LCI attains pathological levels, it can catalyze reactive O species (ROS) formation that, at particular threshold, can surpass cellular anti-oxidant capacities and seriously damage its constituents. While in normal plasma and interstitial fluids, virtually all iron is securely carried by circulating transferrin (Tf; that renders iron essentially non-labile), in systemic iron overload (IO), the total plasma iron binding capacity is often surpassed by a massive iron influx from hyperabsorptive gut or from erythrocyte overburdened spleen and/or liver. As plasma Tf approaches iron saturation, labile plasma iron (LPI) emerges in forms that can infiltrate cells by unregulated routes and raise LCI to toxic levels. Despite the limited knowledge available on LPI speciation in different types and degrees of IO, LPI measurements can be and are in fact used for identifying systemic IO and for initiating/adjusting chelation regimens to attain full-day LPI protection. A recent application of labile iron assay is the detection of labile components in intravenous iron formulations per se as well as in plasma (LPI) following parenteral iron administration

  11. [About a case of calcifying fibrous tumor of the pleura].

    PubMed

    Rocas, Delphine; Thivolet-Béjui, Françoise; Tronc, François; Chalabreysse, Lara

    2015-12-01

    Calcifying fibrous tumor is a rare soft tissue benign tumor (OMS 2002). Some pleural localisations are described, which affect slightly older individuals than the other soft tissue forms. The calcifying fibrous tumor is included in the 2004 World Health Organization classification of pleural tumors. A pleural tumor located in the right inferior pulmonary lobe is diagnosed in a 59-year-old man. This pleural tumor is macroscopically well-circumscribed. Histologically, the rare spindle tumoral cells are located between bundles of a collagenous tissue, sometimes hyalinized, with psammomatous or dystrophic calcifications. The tumoral cells have a fibrohistiocytic origin. They stain positively for antibodies against vimentin, factor XIIIa, CD68, CD163, CD34. Antibodies against smooth muscle actin, desmin, PS100, ALK1 and EBV are negative. Main differencial diagnoses are other benign pleural tumors (solitary fibrous tumor, inflammatory myofibroblastique tumor), some malignant tumors (desmoplastic malignant pleural mesothelioma) and pleural pseudotumors (calcified pleural plaques, chronic fibrous pleuritis, amylose, hyalinizing granuloma). Our case is the 15th pleural calcifying fibrous tumor being reported. PMID:26608111

  12. A Case of Cellular Fibrous Histiocytoma on the Right Elbow with Repeated Relapse within a Short Period.

    PubMed

    Tsunoda, Kanako; Oikawa, Hiroki; Maeda, Fumihiko; Takahashi, Kazuhiro; Akasaka, Toshihide

    2015-01-01

    Cellular fibrous histiocytoma, a variant of fibrous histiocytoma, is a designation used for lesions showing increased cellularity with a fascicular growth pattern and frequent extension into the subcutis. Here we describe a case of cellular fibrous histiocytoma showing repeated recurrence in a 36-year-old woman who initially presented with a 2-cm cutaneous tumor on her right elbow. Histopathologically, the first resected specimen demonstrated irregularly arranged collagen fibers mixed with scattered proliferating plump to spindle-shaped fibrohistiocytes. However, examination of the resected specimens obtained after recurrence showed that the cellularity had increased, the spindle-shaped cells showing monomorphic proliferation with a fascicular and storiform growth pattern extending into the subcutis, as well as an increase of Ki-67 positivity. Since the lesion showed repeated relapse within a short period, we performed wide-field resection of the tumor with a 3-cm margin. Currently, 48 months after surgery, there has been no local recurrence or metastasis, but continuous strict follow-up will be necessary. PMID:25759652

  13. A Case of Cellular Fibrous Histiocytoma on the Right Elbow with Repeated Relapse within a Short Period

    PubMed Central

    Tsunoda, Kanako; Oikawa, Hiroki; Maeda, Fumihiko; Takahashi, Kazuhiro; Akasaka, Toshihide

    2015-01-01

    Cellular fibrous histiocytoma, a variant of fibrous histiocytoma, is a designation used for lesions showing increased cellularity with a fascicular growth pattern and frequent extension into the subcutis. Here we describe a case of cellular fibrous histiocytoma showing repeated recurrence in a 36-year-old woman who initially presented with a 2-cm cutaneous tumor on her right elbow. Histopathologically, the first resected specimen demonstrated irregularly arranged collagen fibers mixed with scattered proliferating plump to spindle-shaped fibrohistiocytes. However, examination of the resected specimens obtained after recurrence showed that the cellularity had increased, the spindle-shaped cells showing monomorphic proliferation with a fascicular and storiform growth pattern extending into the subcutis, as well as an increase of Ki-67 positivity. Since the lesion showed repeated relapse within a short period, we performed wide-field resection of the tumor with a 3-cm margin. Currently, 48 months after surgery, there has been no local recurrence or metastasis, but continuous strict follow-up will be necessary. PMID:25759652

  14. Collapsing angiokeloidal dermatofibroma.

    PubMed

    Schnebelen, Alicia M; Brown, J Ahmad; Cheung, Wang L; Hiatt, Kim M; Smoller, Bruce R

    2012-10-01

    A heterogeneous group of benign fibrohistiocytic lesions has been assembled under the umbrella term, dermatofibroma. These lesions share a morphology of bland spindled cells encompassed by and intercalating through thick dermal collagen; unique variants have been described based on secondary histologic features, some of which include aneurysmal, myxoid, lipidized, signet ring, angiomatous, and keloidal. Here, we present a distinct dermatofibroma variant henceforth known as collapsing angiokeloidal dermatofibroma identified in 2 patients with slowly growing nodules of the buttock and the arm. Microscopically, the lesions have a characteristic dermatofibroma appearance but are accompanied by unusual diffuse small caliber vessels whose walls are collapsed by a thick, eosinophilic, keloid-like substance. The eosinophilic material resembles the adjacent dermal collagen; however, it does not stain for type-4 collagen or type-1 procollagen, amyloid, or glycogen. Although the exact composition of the keloidal material remains ambiguous, the architectural novelty of collapsing angiokeloidal dermatofibroma serves to further expand the morphologic spectrum of benign fibrous histiocytomas, although highlighting the difficulty in distinguishing between it and similar lesions. PMID:22576077

  15. 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

  16. Uterine lipoleiomyoma: A case report of a rare entity

    PubMed Central

    Nayal, Bhavna; Somal, Puneet Kaur; Rao, Anuradha CK; Kumar, Pratap

    2016-01-01

    Lipomatous tumors of the uterus are rare neoplasms which can be divided into three broad groups – pure, mixed, and the exceedingly rare malignant liposarcoma. Lipoleiomyoma is a rare benign variant of leiomyoma with an incidence ranging between 0.03% and 0.2%. These tumors are usually seen in obese postmenopausal women and are usually asymptomatic but may also present with typical leiomyoma symptoms. The most common site of occurrence is the uterine corpus. Imaging plays an important role with magnetic resonance imaging being the modality of choice as it delineates the fat component better. The pathogenesis of this lesion is poorly understood. Histology shows a characteristic pattern with an encapsulated lesion with an admixture of smooth muscle cells, lobules of adipocytes and fibrous tissue. Prognosis is excellent. We report a case of lipoleiomyoma in an elderly, obese postmenopausal woman, who presented with abdominal discomfort and discuss the important differential diagnosis. PMID:27127745

  17. Intramuscular Lipoma: A Review of the Literature

    PubMed Central

    McTighe, Shane; Chernev, Ivan

    2014-01-01

    Lipomas are the most common type of soft tissue mesenchymal tumors. They are typically located subcutaneously and consist of mature fatty tissue. When they occur under the enclosing fascia, they are called deep-seated lipomas. Infrequently, lipomas can arise inside the muscle and are called intramuscular lipomas. Intramuscular lipomas have been commonly investigated and categorized in the same group as other deep-seated and superficial lipomatous lesions. Their clinical, histological and imaging characteristics may resemble well-differentiated liposarcomas, further adding to the difficulties in the differential diagnosis. This article summarizes the available literature and describes the typical epidemiological, pathological and clinical features of intramuscular lipomas, as well as delineating their treatment and prognosis. PMID:25568733

  18. [Mammary hamartoma with atypical stromal cells: a potential diagnostic dilemma].

    PubMed

    Agabiti, S; Gurrera, A; Amico, P; Vasquez, E; Magro, G

    2007-12-01

    Hamartoma of the breast is a pseudotumoural lesion that does not usually pose diagnostic problems for the pathologist. Although atypical stromal cell (ASCs) can be encountered in several benign and malignant breast lesions, their occurrence in hamartoma has not been reported to date. The authors report a case of breast hamartoma containing numerous atypical mono- or multinucleated stromal cells within the fibro-fatty component. This unusual feature raised differential diagnostic problems with pleomorphic lipoma, well-differentiated liposarcoma and malignant phylloid tumour with a lipomatous heterologous component. Immunohistochemistry, showing positivity to vimentin and CD34, revealed that ASCs are fibroblastic in nature, and thus are likely to represent a morphological variant of the fibroblasts of the native mammary stroma. PMID:18416336

  19. Unusual benign solid neoplasms of the kidney: cross-sectional imaging findings

    PubMed Central

    Karaosmanoğlu, Ali Devrim; Onur, Mehmet Ruhi; Shirkhoda, Ali; Ozmen, Mustafa; Hahn, Peter F.

    2015-01-01

    Kidney neoplasms are common diseases with varying prognoses depending on the subtype of the tumor. The most common solid lesion of the kidney is renal cell carcinoma, and the treatment is typically surgical removal. With increasing use of cross-sectional imaging in the last two decades, the detection of renal lesions has significantly increased, especially in asymptomatic patients who are scanned for other reasons. In this article, we present the imaging findings of rare solid benign primary kidney neoplasms including renal leiomyoma, reninoma, carcinoid tumor, metanephric adenoma, solitary fibrous tumor of the kidney, lipomatous hemangiopericytoma of the kidney, renal schwannoma, inflammatory myofibroblastic tumor of the kidney, extramedullary hematopoiesis in the kidney, and extranodal renal Rosai-Dorfman disease. Accurate preoperative or prebiopsy diagnoses of these lesions are unusual; however, informed radiologists may sometimes be able to favorably change the patient management and treatment. PMID:26200482

  20. [Johanson-Blizzard's syndrome: another cause of pancreatic lipomatosis (author's transl)].

    PubMed

    Bresson, J L; Schmitz, J; Saudubray, J M; Lesec, G; Hummel, J A; Rey, J

    1980-01-01

    A new case of Johanson-Blizzard's syndrome is reported. It concerns a boy born to consanguineous parents and who died at the age of 10 months from malnutrition. Anal imperforation, alar agenesia, hair anomalies, mental retardation and external pancreatic failure were associated. Neither deafness nor hypothyroidism appeared to be present. Autopsy revealed lipomatous hypoplasia of the exocrine pancreas, hitherto unobserved in this syndrome, and probably responsible for the external pancreatic failure noted in published cases. The variability within a given family of the Johanson-Blizzard malformative syndrome is illustrated by two other cases reported in the anamnesis, one involving a brother who had died earlier with cutaneous aplasia at the fontanella and lacrimal canal malposition and one involving a second cousin who presented with isolated anal imperforation. PMID:7469679

  1. Dysarthria, progressive parkinsonian features and symmetric necrosis of putamen in a family with painful lipomas (Dercum disease variant).

    PubMed

    Kyllerman, M; Brandberg, G; Wiklund, L-M; Månsson, J-E

    2002-04-01

    We describe painful subcutaneous lipomatosis in four members of a two-generation family. Lipomas appeared in adulthood, were circumscribed, painful on touch and mainly localized to the trunk and proximal parts of the extremities. The disorder was associated with dysarthria, visual pursuit defect and progressive dystonia. MRI showed bilateral increasing cystic lesions in the basal parts of the putamen. No other abnormalities were detected. The lesions corresponded well with the clinical presentation in the patients. Investigation for mitochondrial disease with muscle biopsy and mitochondrial DNA gave normal results. No consistent biochemical changes were found. The disorder in this family was considered to differ from MERRF with lipomatous lesions and multiple symmetric lipomatosis but compatible with a Dercum disease variant. PMID:12075486

  2. 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

  3. Encephalocraniocutaneous Lipomatosis (Haberl and syndrome): A Case Report and Review of Literature

    PubMed Central

    Koti, Kalyan; Bhimireddy, Vijayalakshmi; Dandamudi, Srinivas; Gunnamreddy, Ramanareddy

    2013-01-01

    Encephalocraniocutaneous lipomatosis (ECCL) is a rare sporadic neurocutaneous syndrome characterized by presence of central nervous system, ocular and cutaneous anomalies. The exact pathogenesis is still not known. We present the third case from the Indian subcontinent, who is a five year old girl with history of right sided seizures. Dermatological examination showed alopecia on right side of the scalp and ipsilateral limbal dermoid and nodular skin tags over the upper eyelid. The computerized tomography scan of the brain revealed porencephalic cyst, cerebral calcifications and atrophy of right brain. The histopathology of the skin lesions showed lipomatous hamartoma and features of non scarring alopecia. The constellation of these findings and in adherence to the diagnostic criteria of ECCL proposed in 2009, we consider this report as a definite case of ECCL. PMID:23723477

  4. 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. PMID:24917512

  5. Paratesticular liposarcoma-masquerading as a testicular tumour.

    PubMed

    Vinayagam, Kalaivani; Hosamath, Vijayakumar; Honnappa, Sridhar; Rau, Aarathi Ranga

    2014-02-01

    Paratesticular liposarcomas are rare tumours which account for 12% of all liposarcomas. Probably there are about 186 cases which have been reported till date. They must be differentiated from tumours of testicular origin which have extension to the spermatic cord. We are reporting a case of a 50-year-old male who had presented with a painless swelling in the right hemiscrotum, which was of 20 years' duration. Inititally, a clinical diagnosis of testicular tumour was made; however, CT of the scrotum revealed paratesticular tumour? liposarcoma and testis being normal and displaced postero-inferiorly. Metastatic work-up, which included CT of the abdomen and pelvis, thorax and whole body scan, did not reveal any distant metastasis. Patient underwent high orchidectomy, hemiscrotectomy. Histopathological studies confirmed the diagnosis of well-differentiated liposarcoma (atypical lipomatous tumour of sclerosing type). PMID:24701520

  6. Patient presenting with lipoma of the index finger: a case report

    PubMed Central

    2010-01-01

    Introduction Lipomas can be found anywhere in the body with the majority located in the head and neck region as well as in the shoulder and back. They are not very common in the hand and those involving the fingers are very rare. Although, it is not the only case reported, lipoma of the index finger is very uncommon. Case presentation A 52-year-old Caucasian man presented with a lipoma of the right index finger. He complained of no pain but he had difficulty in manual movements. Treatment was surgical excision of the lipoma. There has been no recurrence for two years. Conclusion Although lipomas of the fingers are rare entities, their awareness is imperative since the differential diagnosis from other soft tissue tumors and from the special lipomatous subtype involved is quite extensive. PMID:20205806

  7. Retroperitoneal well-differentiated inflammatory liposarcoma: a diagnostic dilemma.

    PubMed

    Kawano, Rinsaku; Nishie, Akihiro; Yoshimitsu, Kengo; Irie, Hiroyuki; Tajima, Tsuyoshi; Hirakawa, Masakazu; Ishigami, Kousei; Ushijima, Yasuhiro; Okamoto, Daisuke; Yabuuchi, Hidetake; Taketomi, Akinobu; Nishihara, Yunosuke; Fujita, Nobuhiro; Honda, Hiroshi

    2008-08-01

    We present a case of retroperitoneal well-differentiated inflammatory liposarcoma that was extremely difficult to diagnose preoperatively. Computed tomography and magnetic resonance images showed a 5-cm homogeneous soft-tissue mass with a decreased apparent diffusion coefficient and without fat component in the retroperitoneum. Minimal fat stranding was detected around the mass. The preoperative working diagnosis was malignant lymphoma or inflammatory pseudotumor, whereas the final diagnosis after surgery was well-differentiated inflammatory liposarcoma. As a result, only a large component of lymphoid infiltration was recognized as a tumor preoperatively, and minimal fat stranding represented a component of lipoma-like liposarcoma. In this entity, a lipomatous component could easily be missed on radiologic imaging because of the conspicuity of lymphoid infiltration. We should consider the possibility of this variant when we evaluate a retroperitoneal tumor. PMID:18770006

  8. Electrical resistance of human soft tissue sarcomas: an ex vivo study on surgical specimens.

    PubMed

    Campana, L G; Cesari, M; Dughiero, F; Forzan, M; Rastrelli, M; Rossi, C R; Sieni, E; Tosi, A L

    2016-05-01

    This paper presents a study about electrical resistance, which using fixed electrode geometry could be correlated to the tissue resistivity, of different histological types of human soft tissue sarcomas measured during electroporation. The same voltage pulse sequence was applied to the tumor mass shortly after surgical resection by means of a voltage pulse generator currently used in clinical practice for electrochemotherapy that uses reversible electroporation. The voltage pulses were applied by means of a standard hexagonal electrode composed by seven, 20-mm-long equispaced needles. Irrespective of tumor size, the electrode applies electric pulses to the same volume of tissue. The resistance value was computed from the voltage and current recorded by the pulse generator, and it was correlated with the histological characteristics of the tumor tissue which was assessed by a dedicated pathologist. Some differences in resistance values, which could be correlated to a difference in tissue resistivity, were noticed according to sarcoma histotype. Lipomatous tumors (i.e., those rich in adipose tissue) displayed the highest resistance values (up to 1700 Ω), whereas in the other soft tissue sarcomas, such as those originating from muscle, nerve sheath, or fibrous tissue, the electrical resistance measured was between 40 and 110 Ω. A variability in resistance was found also within the same histotype. Among lipomatous tumors, the presence of myxoid tissue between adipocytes reduced the electrical resistance (e.g., 50-100 Ω). This work represents the first step in order to explore the difference in tissue electrical properties of STS. These results may be used to verify whether tuning electric field intensity according to the specific STS histotype could improve tissue electroporation and ultimately treatment efficacy. PMID:26324245

  9. Plasma levels of miRNA-155 as a powerful diagnostic marker for dedifferentiated liposarcoma

    PubMed Central

    Boro, Aleksandar; Bauer, David; Born, Walter; Fuchs, Bruno

    2016-01-01

    Atypic lipomatous tumors (ALT) and dedifferentiated liposarcomas (DDLS) are closely related liposarcoma subtypes, often difficult to distinguish but they exhibit an entirely different clinical outcome. Recently discovered regulatory functions of miRNAs in liposarcoma progression prompted us to investigate miRNAs as potential diagnostic biomarkers in liposarcoma with a main focus on circulating miRNAs for fast and reliable differential diagnosis. Tumor and blood samples of 35 patients with lipomatous lesions collected between June 2011 and September 2014 were analyzed by qRT-PCR. They included 10 lipomas, 7 ALT, 5 DDLS and 13 myxoid liposarcomas (MLS). Ten samples of normal fat tissue and blood from 20 healthy volunteers were used as controls. A meta-analysis of public data on miRNA expression in liposarcoma revealed 9 miRNAs with potential diagnostic power. Out of these, miRNA-155 was found significantly elevated in the circulation of DDLS patients as compared to the plasma levels detected in all other liposarcoma subtypes and in healthy subjects. miRNA-155 levels in the plasma samples correlated significantly (r=0.41, p=0.02) with those in corresponding tumor extracts. This correlation was even more pronounced in an analysis of plasma and tumor extracts of malignant liposarcoma subtypes alone (r=0.51, p=0.02). Receiver operating characteristic analysis indicated that plasma miRNA-155 levels have a high diagnostic accuracy for distinguishing DDLS from healthy subjects (AUC=0.91, p=0.005) and from lipomas (AUC=0.86, p=0.02), MLS (AUC=0.92, p=0.006) and most importantly ALT (AUC=0.91, p=0.01) patients. In conclusion, this study identified miRNA-155 as a first blood biomarker for the differential diagnosis of DDLS. PMID:27186423

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

    PubMed

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

    2006-08-01

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

  11. Spindle cell lipoma-like tumor, solitary fibrous tumor and myofibroblastoma of the breast: a clinico-pathological analysis of 13 cases in favor of a unifying histogenetic concept.

    PubMed

    Magro, Gaetano; Bisceglia, Michele; Michal, Michal; Eusebi, Vincenzo

    2002-03-01

    We reviewed the clinico-pathological features of a series of 13 cases of benign spindle stromal tumors (BSSTs) of the breast relating to a basic common theme consisting of a well-circumscribed proliferation of vimentin+/CD34+/BCL-2+/CD99+ spindly to oval-epithelioid cells, variably arranged in haphazard to short fascicular growth pattern, with interspersed thick or thin collagen bands. Morphological variations included atypical mono- or multi-nucleated cells in five cases and a mature lipomatous tumor component, varying from focal to prominent, in eight cases. Based on morphological and immunophenotypical features, a distinction was made between two main subtypes of these tumors--fibroblastic and myofibroblastic. The former subtype included two cases respectively represented by a typical solitary fibrous tumor (SFT) and a neoplasm labeled "spindle-cell lipoma (SCL)-like tumor", closely reminiscent of soft tissue SCL. Both tumors had cells with fibroblastic-like appearance, haphazardly arranged and immunoreactive for vimentin, CD34, BCL-2, and CD99. The latter subtype, comprised nine cases exhibiting evidence of myofibroblastic differentiation (desmin and alpha-smooth muscle actin) which were classified as myofibroblastomas (MFBs). The remaining two cases were defined as "mixed BSSTs", having typical features of diverse neoplasms, respectively represented by a case of MFB with focal SFT and pleomorphic/SCL-like areas, and SFT with focal MFB-like component. The common basic morpho-immunophenotypical features, the possibility that both fibroblastic and myofibroblastic tumors may contain an additional mature lipomatous component, and the existence of hybrid stages (mixed BSSTs) strongly support the view that such tumors belong to the same category of lesions. We postulate that the precursor of all these neoplasms is the vimentin+/CD34+ cells of the mammary stroma, the well-known inherent plasticity of which to differentiate toward several mesenchymal lines, provides

  12. T1 signal hyperintensity in the sellar region: spectrum of findings.

    PubMed

    Bonneville, Fabrice; Cattin, Françoise; Marsot-Dupuch, Kathlyn; Dormont, Didier; Bonneville, Jean-François; Chiras, Jacques

    2006-01-01

    T1 signal hyperintensity is a common finding at magnetic resonance imaging of the sellar region. However, this signal intensity pattern has different sources, and its significance depends on the clinical context. Normal variations in sellar T1 signal hyperintensity are related to vasopressin storage in the neurohypophysis, the presence of bone marrow in normal and variant anatomic structures, hyperactive hormone secretion in the anterior pituitary lobe (eg, in newborns and pregnant or lactating women), and flow artifacts and magnetic susceptibility effects. Pathologic variations in T1 signal hyperintensity may be related to clotting of blood (in hemorrhagic pituitary adenoma, pituitary apoplexy, Sheehan syndrome, or thrombosed aneurysm) or the presence of a high concentration of protein (Rathke cleft cyst, craniopharyngioma, or mucocele), fat (lipoma, dermoid cyst, lipomatous meningioma), calcification (craniopharyngioma, chondroma, chordoma), or a paramagnetic substance (manganese, melanin). After treatment, T1 signal hyperintensity may result from the presence of materials used for surgical packing (gelatin sponge, fat); from compression of the cavernous sinus and reduction of the venous flow, caused by overpacking of the operative bed; or from hormone hypersecretion by a remnant of normal tissue in the anterior lobe of the pituitary gland. PMID:16418246

  13. 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

  14. Soft Tissue Tumours of the Retroperitoneum

    PubMed Central

    Van Roggen, J. Frans Graadt

    2000-01-01

    Purpose. This review summarizes the more prevalent soft tissue tumours arising in the retroperitoneum and highlights some recent fundamental and diagnostic developments relevant to mesenchymal tumours. Discussion. The retroperitoneum is an underestimated site for benign and malignant neoplastic disease, and represents the second most common site of origin of primary malignant soft tissue tumours (sarcomas) after the deep tissues of the lower extremity. In contrast to the predominance of benign soft tissue lesions over malignant sarcomas elsewhere, retroperitoneal mesenchymal lesions are far more likely to be malignant. The differential diagnosis is primarily with the more common lymphoproliferative and parenchymatous epithelial lesions arising in this area, and with metastatic disease from known or unknown primary sites elsewhere.The most prevalent mesenchymal tumours at this site are of a lipomatous, myogenic or neural nature.Their generally late clinical presentation and poorly accessible location provides numerous clinical challenges; optimal radiological imaging and a properly performed biopsy are essential cogs in the management route. Histopathological diagnosis may be complicated, but has been aided by developments in the fields of immunohistochemistry and tumour (cyto)genetics. Despite significant advances in oncological management protocols, the prognosis remains generally less favourable than for similar tumours at more accessible sites. PMID:18521430

  15. Surgical excision of madelung disease using bilateral cervical lymphnode dissection technique-its effect and the influence of previous injection lipolysis.

    PubMed

    Andou, Erika; Komoto, Masakazu; Hasegawa, Toshio; Mizuno, Hiroshi; Hayashi, Ayato

    2015-04-01

    Madelung disease, also known as benign symmetrical lipomatosis, is a rare condition characterized by symmetrical diffuse adipose tissue in the neck, shoulders, and arms. The present report described the case of a 51-year-old man diagnosed with Madelung disease who presented with masses primarily in the neck. He had previously shown partial improvement after injection lipolysis and shoulder surgery. However, 4 years later, following corticosteroid administration for the treatment of acute deafness, cervical lipomatosis progressed to the extent that he was unable to fasten his shirt. The initial treatment plan involved bilateral surgical excision of the lipomatous masses of the neck and liposuction for those in the submental area. However, the lipomas were adherent to the surrounding tissue and were partially fibrosed, presumably due to the previous injection lipolysis; thus, liposuction was not possible, and all the masses around the neck were carefully excised using cervical lymph node dissection technique. Thirty-two months later, the patient showed good cosmetic results, with no recurrence of cervical lipomatosis. Radical resection of the lipomas using a cervical dissection technique is useful in the treatment of Madelung disease; however, clinicians must consider the potential for adhesions and plan a meticulous dissection in those who have undergone injection lipolysis before the surgery. PMID:25973353

  16. Pitfalls of adrenal imaging with chemical shift MRI.

    PubMed

    Schieda, N; Al Dandan, O; Kielar, A Z; Flood, T A; McInnes, M D F; Siegelman, E S

    2014-11-01

    Chemical shift (CS) MRI of the adrenal glands exploits the different precessional frequencies of fat and water protons to differentiate the intracytoplasmic lipid-containing adrenal adenoma from other adrenal lesions. The purpose of this review is to illustrate both technical and interpretive pitfalls of adrenal imaging with CS MRI and emphasize the importance of adherence to strict technical specifications and errors that may occur when other imaging features and clinical factors are not incorporated into the diagnosis. When performed properly, the specificity of CS MRI for the diagnosis of adrenal adenoma is over 90%. Sampling the in-phase and opposed-phase echoes in the correct order and during the same breath-hold are essential requirements, and using the first echo pair is preferred, if possible. CS MRI characterizes more adrenal adenomas then unenhanced CT but may be non-diagnostic in a proportion of lipid-poor adenomas; CT washout studies may be able to diagnose these lipid-poor adenomas. Other primary and secondary adrenal tumours and supra-renal disease entities may contain lipid or gross fat and mimic adenoma or myelolipoma. Heterogeneity within an adrenal lesion that contains intracytoplasmic lipid could be due to myelolipoma, lipomatous metaplasia of adenoma, or collision tumour. Correlation with previous imaging, other imaging features, clinical history, and laboratory investigations can minimize interpretive errors. PMID:25062926

  17. Surgical Excision of Madelung Disease Using Bilateral Cervical Lymphnode Dissection Technique—Its Effect and the Influence of Previous Injection Lipolysis

    PubMed Central

    Andou, Erika; Komoto, Masakazu; Hasegawa, Toshio; Mizuno, Hiroshi

    2015-01-01

    Summary: Madelung disease, also known as benign symmetrical lipomatosis, is a rare condition characterized by symmetrical diffuse adipose tissue in the neck, shoulders, and arms. The present report described the case of a 51-year-old man diagnosed with Madelung disease who presented with masses primarily in the neck. He had previously shown partial improvement after injection lipolysis and shoulder surgery. However, 4 years later, following corticosteroid administration for the treatment of acute deafness, cervical lipomatosis progressed to the extent that he was unable to fasten his shirt. The initial treatment plan involved bilateral surgical excision of the lipomatous masses of the neck and liposuction for those in the submental area. However, the lipomas were adherent to the surrounding tissue and were partially fibrosed, presumably due to the previous injection lipolysis; thus, liposuction was not possible, and all the masses around the neck were carefully excised using cervical lymph node dissection technique. Thirty-two months later, the patient showed good cosmetic results, with no recurrence of cervical lipomatosis. Radical resection of the lipomas using a cervical dissection technique is useful in the treatment of Madelung disease; however, clinicians must consider the potential for adhesions and plan a meticulous dissection in those who have undergone injection lipolysis before the surgery. PMID:25973353

  18. Molecular and Functional Characterization of Three Different Postzygotic Mutations in PIK3CA-Related Overgrowth Spectrum (PROS) Patients: Effects on PI3K/AKT/mTOR Signaling and Sensitivity to PIK3 Inhibitors

    PubMed Central

    Forte, Giovanna; Bagnulo, Rosanna; Stella, Alessandro; Lastella, Patrizia; Cutrone, Mario; Benedicenti, Francesco; Susca, Francesco C.; Patruno, Margherita; Varvara, Dora; Germani, Aldo; Chessa, Luciana; Laforgia, Nicola; Tenconi, Romano; Simone, Cristiano; Resta, Nicoletta

    2015-01-01

    Background PIK3CA-related overgrowth spectrum (PROS) include a group of disorders that affect only the terminal portion of a limb, such as type I macrodactyly, and conditions like fibroadipose overgrowth (FAO), megalencephaly-capillary malformation (MCAP) syndrome, congenital lipomatous asymmetric overgrowth of the trunk, lymphatic, capillary, venous, and combined-type vascular malformations, epidermal nevi, skeletal and spinal anomalies (CLOVES) syndrome and Hemihyperplasia Multiple Lipomatosis (HHML). Heterozygous postzygotic PIK3CA mutations are frequently identified in these syndromes, while timing and tissue specificity of the mutational event are likely responsible for the extreme phenotypic variability observed. Methods We carried out a combination of Sanger sequencing and targeted deep sequencing of genes involved in the PI3K/AKT/mTOR pathway in three patients (1 MCAP and 2 FAO) to identify causative mutations, and performed immunoblot analyses to assay the phosphorylation status of AKT and P70S6K in affected dermal fibroblasts. In addition, we evaluated their ability to grow in the absence of serum and their response to the PI3K inhibitors wortmannin and LY294002 in vitro. Results and Conclusion Our data indicate that patients’ cells showed constitutive activation of the PI3K/Akt pathway. Of note, PI3K pharmacological blockade resulted in a significant reduction of the proliferation rate in culture, suggesting that inhibition of PI3K might prove beneficial in future therapies for PROS patients. PMID:25915946

  19. The nasopalpebral lipoma-coloboma syndrome: a new autosomal dominant dysplasia-malformation syndrome with congenital nasopalpebral lipomas, eyelid colobomas, telecanthus, and maxillary hypoplasia.

    PubMed

    Penchaszadeh, V B; Velasquez, D; Arrivillaga, R

    1982-04-01

    We describe a new autosomal dominant dysplasia-malformation syndrome from eight affected individuals in three generations of a Venezuelan family. It is characterized by congenital symmetrical upper lid and nasopalpebral lipomas, bilateral symmetrical upper and lower palpebral colobomas located at the junction of the inner and middle thirds of the lids, telecanthus, and maxillary hypoplasia. Affected individuals have a broad forehead, window's peak, abnormal pattern of eyebrows and eyelashes, and maldevelopment of the lacrimal punctae. Interorbital distance is normal, but interpupillary distance is increased due to divergent strabismus originating from visual interference from inner canthal masses. Persistent epiphora, conjunctival hyperemia, and corneal (and less frequently lens) opacities are a secondary consequence of the defect of the lacrimal punctae and the inability to close the lids completely. The syndrome has complete penetrance and a rather narrow range of expressivity. The primary defect could involve a dysplasia of adipose tissue leading to nasopalpebral and upper lid lipomas during embryogenesis, with the rest of the malformations being secondary to interference of morphogenesis of the mid-upperface developmental field from the lipomatous hamartomas. Alternatively, a central rather than a peripheral mechanism of malformation might be considered, such as defective migration of neural crest cells. PMID:7091184

  20. 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

  1. Neurocytoma arising in the pelvis.

    PubMed

    Friedrichs, Nicolaus; Vorreuther, Roland; Fischer, Hans-Peter; Wiestler, Otmar D; Buettner, Reinhard

    2003-08-01

    Central neurocytoma represents a rare neoplasm of the central nervous system with advanced neurocytic and sometimes focal lipomatous differentiation, a low proliferative potential and a favorable prognosis depending on the efficiency of surgical resection. This entity has been described as an intraventricular tumor near the foramen Monroi. Here, we report a case of a 21-year-old male with peripheral neurocytoma. Using computed tomography, a tumor of unknown origin was located behind the bladder. After complete surgical resection of the tumor, histologically small uniform cells, zones of fibrillarity and neuropil-like islands were seen. Immunohistochemistry revealed positivity for the neuronal markers synaptophysin, neuron-specific enolase and neurofilaments. Vimentin, pan-keratin, desmin, chromogranin, CD-99 and glial fibrillary acidic protein were immuno-negative. A low proliferation rate (1-2%) was found. Several case reports described extraventricular central neurocytomas. A sole publication documented a peripheral neurocytoma arising within a mature cystic teratoma of the ovary. To our knowledge, this is the second reported case of a neurocytoma outside the central nervous system, indicating that this entity may also occur infrequently in peripheral tissues. PMID:12844263

  2. Histopathological Spectrum of Tumor and 
Tumor-like Lesions of the Paratestis in a 
Tertiary Care Hospital

    PubMed Central

    Khandeparkar, Siddhi G. S.; Pinto, R. G. W.

    2015-01-01

    Objectives Tumors and tumor-like lesions (TLL) of the paratesticular region are rare. Very few studies depicting the spectrum of lesions of this location are available in the literature. Malignant neoplasms arising in the paratesticular region represent only 7.0% of malignant tumors presenting as a scrotal mass. TLL and benign tumors are of great interest, because of their topography they can simulate a neoplasm in the paratesticular structures. We sought to study the incidence, nature, pattern, clinical, immune, and histopathological characteristics of tumors and TLL of the paratestis. Methods In this six-year study, records of the cases were reviewed and the histopathology slides were reassessed. Blocks were retrieved and stained immunohistochemically for relevant markers. Results A total of 47 cases of tumor and TLL of the paratestis were diagnosed over a six-year period. The patients ranged from one to 76 years old and most presented with a scrotal mass. Of these, seven (14.9%) were benign. Lipoma was the most common benign tumor. One case each of adenomatoid tumor, scrotal hemangioma, solitary fibrous tumor, and papillary cyst adenoma were reported. The TLL (70.2%) comprised of 17 cases of epididymal cyst, seven cases of tuberculous epididymitis, four cases of filarial epididymitis, two cases each of non-specific granulomatous epididymitis and fibromatous periorchitis, and one case of mesothelial cyst. Seven malignant tumors (14.9%) were diagnosed all of which were sarcomas. All seven were primary to the paratesticular region. The most common malignant tumor was embryonal rhabdomyosarcoma. One case each of malignant mesothelioma, malignant fibrous histiocytoma, atypical lipomatous tumor/well-differentiated liposarcoma, and myxoid liposarcoma were identified. Conclusion Neoplasms of the paratesticular region affect patients of all ages, with potentially life-threatening sequelae. Awareness of the entire spectrum and meticulous histopathological examination and

  3. Cystic Fibrosis below the Diaphragm: Abdominal Findings in Adult Patients.

    PubMed

    Lavelle, Lisa P; McEvoy, Sinead H; Ni Mhurchu, Elaine; Gibney, Robert G; McMahon, Colm J; Heffernan, Eric J; Malone, Dermot E

    2015-01-01

    Cystic fibrosis (CF) is the most common lethal autosomal recessive disease in the white population. Mutation of the CF transmembrane conductance regulator gene on chromosome 7 results in production of abnormally viscous mucus and secretions in the lungs of patients with CF. A similar pathologic process occurs in the gastrointestinal tract, pancreas, and hepatobiliary system. Inspissated mucus causes luminal obstruction and resultant clinical and radiologic complications associated with the disease process. Pancreatic involvement can result in exocrine and endocrine insufficiency, pancreatic atrophy, fatty replacement, or lipomatous pseudohypertrophy. Acute and chronic pancreatitis, pancreatic calcification, cysts, and cystosis also occur. Hepatic manifestations include hepatic steatosis, focal biliary and multilobular cirrhosis, and portal hypertension. Biliary complications include cholelithiasis, microgallbladder, and sclerosing cholangitis. The entire digestive tract can be involved. Distal ileal obstruction syndrome, intussusception, appendicitis, chronic constipation, colonic wall thickening, fibrosing colonopathy, pneumatosis intestinalis, gastroesophageal reflux, and peptic ulcer disease have been described. Renal manifestations include nephrolithiasis and secondary amyloidosis. The educational objectives of this review are to reveal the abdominal manifestations of CF to facilitate focused analysis of cross-sectional imaging in adult patients. Life expectancy in patients with CF continues to improve because of a combination of aggressive antibiotic treatment, improved emphasis on nutrition and physiotherapy, and development of promising new CF transmembrane conductance regulator modulators. As lung function and survival improve, extrapulmonary conditions, including hepatic and gastrointestinal malignancy, will be an increasing cause of morbidity and mortality. Awareness of the expected abdominal manifestations of CF may assist radiologists in identifying

  4. 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. PMID:27001431

  5. Hepatic angiomyolipoma: a series of six cases with emphasis on pathological-radiological correlations and unusual variants diagnosed by core needle biopsy

    PubMed Central

    Agaimy, Abbas; Vassos, Nikolaos; Croner, Roland S; Strobel, Deike; Lell, Michael

    2012-01-01

    Hepatic angiomyolipoma is rare and may pose differential diagnostic difficulty, particularly if encountered in core needle biopsy. We studied 6 cases from 5 males and one female (median age, 48.6 yrs). All presented with non-specific symptoms or an incidentally discovered tumor mass. Two patients had a remote history of chemotherapy for hematological neoplasms (acute lymphoblastic leukemia and Hodgkin lymphoma respectively) and another had clear cell renal cell carcinoma and anaplastic pancreatic carcinoma diagnosed at autopsy without definable syndrome. None of the patients had evidence of the tuberous sclerosis complex or renal or other extra-renal angiomyolipoma. Three tumors were resected completely and three have been only biopsied and followed up. None of the resected cases recurred at a mean follow-up of 35 months. Histologically, tumors were classified as classical triphasic (1), lipomatous (2), epithelioid/oncocytoid (1), epithelioid trabecular (1) and myelolipoma-like (1). The adjacent liver parenchyma was normal in 3 cases, showed pigment cirrhosis in one case and mild fatty change in another case. One case had clinically diagnosed but histologically unverified cirrhosis. The initial diagnostic impression/frozen section was misleading in 5 of the cases and included vascular lesion, focal fatty change, myelolipoma, hepatocellular tumor and oncocytic neoplasm. All tumors expressed HMB45 and variably desmin. One epithelioid lesion expressed HMB45 and TFE3, but lacked desmin expression. In conclusion, hepatic angiomyolipomas are increasingly recognized as incidental findings during surveillance for cirrhosis or investigations for unrelated conditions. Awareness of their diverse morphological spectrum in liver biopsy is necessary to avoid misdiagnosis as hepatocellular carcinoma, metastatic melanoma or other malignant neoplasms. PMID:22949933

  6. Fine needle Aspiration Biopsy (FNAB) in the initial evaluation and diagnosis of palpable soft tissue lesions and with histologic correlation

    PubMed Central

    Ogun, Gabriel Olabiyi

    2015-01-01

    Introduction Fine-needle aspiration biopsy (FNAB) as a means of evaluation of palpable soft tissue lesions is poorly utilized in our environment despite the fact that it safe, cheap, quick and easy to perform. Methods All cases of cases of palpable soft tissue lesions of the trunk and extremities where FNAB was used as the initial evaluation tool were reviewed. Furthermore, the records for corresponding cases that had open excision biopsy and ultimately had histologic diagnosis out of these cases were also retrieved and correlated with the final diagnosis from FNAB. Results Out of 142 aspirates, only 107(75.3% of cases) fulfilled the inclusion criteria for the study. The age range was from 0-85 years (mean = 41.2 yrs.) with a roughly equal male:female ratio. The lesions were located in the trunk -56 cases, upper arm -7, forearm -1, hand -1, thigh -28, leg -7 and the foot-7. The FNAB was diagnosed as benign in 56 (52.3%) cases, malignant in 48 (44.8%) cases and suspicious of malignancy in 3(2.8%) cases. The cases were cytomorphologically classified into the following categories: Lipomatous (32 cases), epithelia (18), spindle cell (14), inflammatory (13) pleomorphic (11), small round (6), myxoid (5), epitheloid/ polygonal (1) and others (7). The sensitivity and specificity of diagnosed cases with FNAB as either benign or malignant when correlated with histology were 95% and 100% respectively. Conclusion FNAB is a valuable tool in the initial evaluation of palpable soft tissue lesions especially in primary soft tissue neoplasms and clinically suspected metastatic carcinomas. PMID:26090002

  7. PIK3CA-Related Overgrowth Spectrum (PROS): Diagnostic and Testing Eligibility Criteria, Differential Diagnosis, and Evaluation

    PubMed Central

    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.

    2015-01-01

    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

  8. Challenging dedifferentiated liposarcoma identified by MDM2-amplification, a report of two cases

    PubMed Central

    2014-01-01

    Background Liposarcoma is the most frequent soft tissue sarcoma. Well differentiated liposarcoma may progress into dedifferentiated liposarcoma with pleomorphic histology. A minority additionally features myogenic, osteo- or chondrosarcomatous heterologous differentiation. Genomic amplification of the Mouse double minute 2 homolog (MDM2) locus is characteristic for well differentiated and dedifferentiated liposarcomas. Detection of MDM2 amplification may supplement histopathology and aid to distinguish liposarcoma from other soft tissue neoplasia. Case presentation Here we present two cases of dedifferentiated liposarcoma with challenging presentation. Case 1 features a myogenic component. As the tumour infiltrated the abdominal muscles and showed immunohistochemical expression of myogenic proteins, rhabdomyosarcoma had to be ruled out. Case 2 has an osteosarcomatous component resembling extraosseous osteosarcoma. The MDM2 status was determined in both cases and helped making the correct diagnosis. Overexpression of MDM2 and co-overexpression of Cyclin-dependent kinase 4 is demonstrated by immunohistochemistry. The underlying MDM2 amplification is shown by fluorescence in situ hybridisation. Since low grade osteosarcoma may also harbour MDM2 amplification it is emphasised that the amplification has to be present in the lipomatous parts of the tumour to distinguish liposarcoma from extraosseous osteosarcoma. Conclusions The two cases exemplify challenges in the diagnoses of dedifferentiated liposarcoma. Liposarcoma often has pleomorphic histology and additionally may feature heterologous components that mimic other soft tissue neoplasms. Amplification of MDM2 is characteristic for well differentiated and dedifferentiated liposarcomas. Determination of the MDM2 status by in situ hybridisation may assist histopathology and help to rule out differential diagnoses. PMID:25126005

  9. Managing Liposarcomas: Cutting Through the Fat.

    PubMed

    Manji, Gulam A; Schwartz, Gary K

    2016-03-01

    Liposarcomas are one of the most common of more than 50 histologic subtypes of soft tissue sarcomas that, themselves, are heterogeneous. Liposarcomas fall into four distinct histologic subtypes: atypical lipomatous tumor/well-differentiated liposarcoma, dedifferentiated liposarcoma, myxoid (round cell) liposarcoma, and pleomorphic liposarcoma. Definitive treatment remains surgical resection with negative margins for resectable disease. However, well-differentiated liposarcomas that are large or difficult to operate upon should be followed with close surveillance as long as there is no radiologic concern for a dedifferentiated component. In contrast, first-line chemotherapy with anthracycline with or without ifosfamide, or gemcitabine and docetaxel should be used for inoperable myxoid (round cell) or pleomorphic liposarcomas, which are relatively responsive to chemotherapy. In the second- and third-line setting, myxoid liposarcomas, in particular, seem to be sensitive to trabectedin, which was recently approved by the US Food and Drug Administration (FDA). Eribulin offered a survival benefit when compared with dacarbazine in the third-line setting in liposarcomas (other than the well-differentiated subtype) and is now FDA approved. Recent studies have identified distinct genetic aberrations that not only aid in the diagnosis of liposarcoma subtypes but represent actionable targets. Cyclin-dependent kinase 4 and murine double minute 2 are overexpressed in well-differentiated and dedifferentiated liposarcomas and offer opportunities that are being pursued in clinical trials. It is critical that liposarcomas are not approached by oncologists as one disease entity but rather subclassified into distinct subtypes using histologic and molecular tools before formalizing a treatment plan. PMID:26962163

  10. Lymphatic and other vascular malformative/overgrowth disorders are caused by somatic mutations in PIK3CA

    PubMed Central

    Luks, Valerie L.; Kamitaki, Nolan; Vivero, Matthew P.; Uller, Wibke; Rab, Rashed; Bovée, Judith V.M.G.; Rialon, Kristy L.; Guevara, Carlos J.; Alomari, Ahmad I.; Greene, Arin K.; Fishman, Steven J.; Kozakewich, Harry P.W.; Maclellan, Reid A.; Mulliken, John B.; Rahbar, Reza; Spencer, Samantha A.; Trenor, Cameron C.; Upton, Joseph; Zurakowski, David; Perkins, Jonathan A.; Kirsh, Andrew; Bennett, James T; Dobyns, William B; Kurek, Kyle C.; Warman, Matthew L.; McCarroll, Steven A.; Murillo, Rudy

    2015-01-01

    Objectives To test the hypothesis that somatic PIK3CA mutations would be found in patients with more common disorders including isolated lymphatic malformation (LM) and Klippel-Trenaunay syndrome (KTS). Study design We used next generation sequencing, droplet digital PCR (ddPCR), and single molecule molecular inversion probes (smMIPs) to search for somatic PIK3CA mutations in affected tissue from patients seen at Boston Children’s Hospital who had an isolated LM (n=17), KTS (n=21), fibro-adipose vascular anomaly (FAVA; n=8), or congenital lipomatous overgrowth with vascular, epidermal, and skeletal anomalies syndrome (CLOVES; n = 33), the disorder for which we first identified somatic PIK3CA mutations. We also screened 5 of the more common PIK3CA mutations in a second cohort of patients with LM (n=31) from Seattle Children’s Hospital. Results Most individuals from Boston Children’s Hospital who had isolated LM (16/17) or LM as part of a syndrome, such as KTS (19/21), FAVA (4/8), and CLOVES (30/32) were somatic mosaic for PIK3CA mutations, with 5 specific PIK3CA mutations accounting for ~ 80% of cases. Seventy-four percent of patients with LM from Seattle Children’s Hospital also were somatic mosaic for 1 of 5 specific PIK3CA mutations. Many affected tissue specimens from both cohorts contained fewer than 10% mutant cells. Conclusions Somatic PIK3CA mutations are the most common cause of isolated lymphatic malformations and disorders in which lymphatic malformation is a component feature. Five PIK3CA mutations account for most cases. The search for causal mutations requires sampling of affected tissues and techniques that are capable of detecting low-level somatic mosaicism, because the abundance of mutant cells in a malformed tissue can be low. PMID:25681199

  11. Oral Spindle Cell Lipoma in a Rare Location: A Differential Diagnosis

    PubMed Central

    Jaeger, Filipe; Capistrano, Hermínia Marques; de Castro, Wagner Henriques; Caldeira, Patrícia Carlos; do Carmo, Maria Auxiliadora Vieira; de Mesquita, Ricardo Alves; de Aguiar, Maria Cássia Ferreira

    2015-01-01

    Patient: Male, 56 Final Diagnosis: Spindle cell lipoma Symptoms: Asymptomatic Medication: Not applicable Clinical Procedure: Excisional biopsy Specialty: Oral and Maxillofacial Surgery • Oral and Maxillofacial Pathology Objective: Rare disease Background: Spindle cell lipoma (SCL) is an uncommon and histologically distinct variant of lipoma. It usually occurs as a solitary, subcutaneous, and well-circumscribed lesion in the posterior neck, shoulders, and back of older men. SCL of the oral cavity is rare. We present the clinical-pathologic features of the third case of SCL located on the hard palate and discuss the histological differential diagnosis with other fusiform neoplasms. Case Report: A 56-year-old man was evaluated for an asymptomatic swelling on the right side of the hard palate. The intra-oral examination showed a 25×20 mm sessile and circumscribed tumor, underlying an apparently healthy mucosa of normal color. The lesion revealed a floating consistency during palpation. Excisional biopsy was carried out based on a clinical diagnosis of lipoma or a benign minor salivary gland tumor. The histopathology demonstrated a well-circumscribed but unencapsulated proliferation of bland spindle cells admixed with mature adipocytes in a collagenous/myxoid stroma. The spindle cells were uniform, exhibiting elongated nuclei and narrow cytoplasmic processes without atypia. They were positive to CD34 and negative to factor VIII, alpha-smooth muscle actin, S100, cytokeratin, and actin. Mitotic activity was low, as confirmed by Ki-67 immunostaining. No lipoblastic activity was found. The diagnosis of SCL was therefore established. Conclusions: Oral spindle cell lipoma is a rare benign lipomatous tumor. The histologic picture shows a range of variations and the observation of morphological features is important to distinguish this lesion from other fusiform tumors. Immunohistochemistry should be helpful in this differentiation. PMID:26615969

  12. The Histopathology of PRSS1 Hereditary Pancreatitis

    PubMed Central

    Singhi, Aatur D.; Pai, Reetesh K.; Kant, Jeffrey A.; Bartholow, Tanner L.; Zeh, Herbert J.; Lee, Kenneth K.; Wijkstrom, Martin; Yadav, Dhiraj; Bottino, Rita; Brand, Randall E.; Chennat, Jennifer S.; Lowe, Mark E.; Papachristou, Georgios I.; Slivka, Adam; Whitcomb, David C.; Humar, Abhinav

    2015-01-01

    Hereditary pancreatitis is an autosomal dominant disorder with 80% penetrance and variable expressivity. The vast majority of cases have been linked to mutations within the cationic trypsinogen gene, also referred to as serine protease 1 (PRSS1). Other than inheritance, PRSS1 pancreatitis has been considered clinically and pathologically indistinguishable from other etiologies of chronic pancreatitis. However, to date, the histologic findings of PRSS1 pancreatitis have not been well described. We, therefore, collected pancreatic specimens from 10 PRSS1 patients of various ages and examined their clinicopathologic features. Patients at the time of resection ranged in age from 9 to 66 years (median, 29 y), with a slight female predominance (60%). All patients reported a history of intermittent abdominal pain, with an age of onset ranging from infancy to 21 years of age. Examination of the gross and microscopic findings suggested a sequential pattern of changes with increasing patient age. In pediatric patients (n=4), although in most cases the pancreas was grossly normal, there was microscopic variation in lobular size and shape. Although the central portions of the pancreas displayed parenchymal loss accompanied by loose perilobular and interlobular fibrosis, the periphery was remarkable for replacement by mature adipose tissue. These changes were more developed in younger adults (n=2), in whom fatty replacement seemed to extend from the periphery to the central portions of the pancreas. With older patients (n=4), the pancreas showed marked atrophy and extensive replacement by mature adipose tissue with scattered islets of Langerhans and rare acinar epithelium concentrated near the main pancreatic duct. In summary, PRSS1 hereditary pancreatitis is characterized by progressive lipomatous atrophy of the pancreas. PMID:24525505

  13. 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

  14. 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.

  15. 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.