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Sample records for hemosiderotic fibrohistiocytic lipomatous

  1. Plexiform fibrohistiocytic tumor of the foot: a case report.

    PubMed

    Harrill, Jason C; Johnston, R Scott

    2014-01-01

    Plexiform fibrohistiocytic tumors are rare, small, ill-defined, solitary masses found in the deep dermis or subcutaneous tissues. These tumors will ordinarily be slow-growing masses that almost solely occur in children and young adults. They have had a greater prevalence in the upper extremity than in the lower extremity, with limited reports of this lesion in the lower extremity. We report a small painful mass found in the central plantar heel of a 12-year-old male. PMID:24880864

  2. 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

  3. 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 mitotic index in the nodules were anatomic features most predictive of postplenectomy mortality. A higher proportion of lymphoid to fibrohistiocytic type cells was associated with increased long-term survival, whereas lower lymphoid:fibrohistiocytic proportions and higher mitotic index indicated a probability of higher short-term mortality. PMID:9823590

  4. Immunohistological demonstration of factors XIIIa and XIIIs in reactive and neoplastic fibroblastic and fibro-histiocytic lesions.

    PubMed

    Reid, M B; Gray, C; Fear, J D; Bird, C C

    1986-11-01

    Factor XIII sub-units a and s (XIIIa and XIIIb) have been localized previously in fibroblasts of the liver and in other tissues. An immunoperoxidase technique was used to localize these factors in benign and malignant fibroblastic and fibro-histiocytic lesions. Positive staining was present in cells in almost all of the benign and fibro-histiocytic lesions but was reduced in the malignant group. However, the pattern of staining was not sufficiently consistent to justify the use of the factors XIII as diagnostic markers in soft tissue neoplasia. PMID:3542785

  5. Myxoinflammatory fibroblastic sarcoma: morphologic and genetic updates.

    PubMed

    Ieremia, Eleni; Thway, Khin

    2014-10-01

    Myxoinflammatory fibroblastic sarcoma (MIFS) is a malignant mesenchymal neoplasm most frequently arising in the distal extremities of adults, which usually behaves in a low-grade manner but is capable of metastasizing to local and distant sites, rarely leading to death. It is a rare tumor whose unusual morphology can lead to erroneous histologic diagnosis, either as a nonneoplastic (infectious or inflammatory) process or as a variety of neoplastic diseases. While its exact origin is uncertain, ultrastructural studies have shown at least some of the constituent cells to be modified fibroblasts. Distinct and reproducible genetic abnormalities identified in MIFS are translocation t(1;10)(p22:q24), with rearrangements of the TGFBR3 and MGEA5 genes associated with increased levels of FGF8, and formation of marker/ring chromosome 3, with amplification of the VGLL3 locus. Because these genetic abnormalities are shared by both MIFS and hemosiderotic fibrohistiocytic lipomatous tumor, it is thought that these 2 morphologically distinct neoplasms may comprise a spectrum of disease defined by these genetics. We review the literature on MIFS and discuss morphology (including that of MIFS/hemosiderotic fibrohistiocytic lipomatous tumor hybrid lesions), immunohistochemistry, the differential diagnosis, and recent molecular genetic developments. PMID:25268202

  6. 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

  7. Lipomatous meningioma with concomitant acute subdural hematoma--case report--.

    PubMed

    Kashimura, Hiroshi; Arai, Hiroshi; Ogasawara, Kuniaki; Beppu, Takaaki; Kurose, Akira; Ogawa, Akira

    2008-10-01

    A 55-year-old man presented with a rare lipomatous meningioma associated with acute subdural hematoma manifesting as sudden onset of severe headache, but no neurological deficit. No evidence of trauma or underlying predisposition to hemorrhage was seen. Fluid-attenuated inversion-recovery magnetic resonance imaging showed a thin hyperintense area in the right temporal convexity, and an extra-axial mass appearing as mixed hypointensity and hyperintensity. Two weeks later, right temporal craniotomy was performed and the tumor was totally resected with the attached dura. The hematoma was localized at the inferior margin of the mass and connected directly with the tumor. Histological examination of the resected specimen revealed typical meningothelial meningioma admixed with mature adipose tissue. Longstanding intratumoral congestion probably caused hyaline deposition in the tissue, leading to vessel rupture. PMID:18948682

  8. Revisiting Lipomatous Meningioma: A Case Report and Review of an Unusual Entity.

    PubMed

    Gasparinho, Maria Gabriela; Ferreira, Marco; Lavrador, José Pedro; Livraghi, Sérgio

    2015-08-01

    Lipomatous meningioma is a very rare subtype of metaplastic meningioma. It is defined by the presence of adipocytic-like cells, which are thought to result from lipid accumulation in meningothelial cells or true metaplastic change. We report a case of a lipomatous meningioma arising in a female patient complaining of recent seizures. Imaging studies revealed a 4-cm dural-based mass, with severe perilesional edema. Histologically, the tumor was composed of meningothelial whorls intermixed with adipocytic-like cells. No atypical criteria or brain invasion were found. The 2 components have differences in progesterone receptor expression and Ki-67 labeling, which may suggest that adipocytic-like cells may represent some quiescent form of meningothelial neoplastic cells, characterized by metabolic abnormalities, leading to lipid accumulation and very low proliferative activity. Lipomatous meningioma should also be kept in mind when considering the differential diagnosis of dural lesions with vasogenic edema in the absence of brain invasion. PMID:25911563

  9. Spindle cell lipoma masquerading as lipomatous pleomorphic adenoma: A diagnostic dilemma on fine needle aspiration cytology.

    PubMed

    Agarwal, S; Nangia, A; Jyotsna, P Lalita; Pujani, M

    2013-01-01

    Spindle cell lipoma is a relatively uncommon benign adipocytic tumor that usually presents in subcutaneous fat of adult men. These are a rare form of lipoma, accounting for 1.5% of all lipomatous tumors, with a low rate of local recurrence and no risk of malignant behavior/dedifferentiation. Although few studies addressing the histological findings of spindle cell lipoma have been described, only a few descriptions of fine needle aspiration cytology (FNAC) findings have been documented in literature. We present a case of a 55-year-old male with a nodular swelling over left cheek (in the parotid region), which due to its location as well as prominent myxoid background prompted us to include the lipomatous salivary gland lesions in differential diagnosis. Our objective is to document and delineate the characteristic cytological features of spindle cell lipoma, which may permit a confident diagnosis on FNAC smears. PMID:23661944

  10. 71-year-old woman with dizziness and lipomatous hypertrophy of the left atrium

    PubMed Central

    Osbak, Philip Samuel; Kofoed, Klaus Fuglsang

    2009-01-01

    Lipomatous hypertrophy, an unencapsulated atrial mass of adipose tissue, occurs in 1% of the population; the clinical significance of this is uncertain. Diagnosis is by echocardiography, computed tomography or magnetic resonance imaging scan. Surgical intervention is thought to be indicated in patients with obstruction, thromboembolism, uncontrollable arrhythmia or when liposarcoma cannot be excluded. We describe a case in which a 71-year-old woman was diagnosed with lipomatous hypertrophy of the left atrium. The finding of a large atrial mass was unexpected in this case. The clinical implications of the finding are unclear, since the aetiology and prognostic consequences are unknown. As the finding is not that uncommon others may find similar cases. It is therefore important that echocardiographers are aware of this entity and the aspects one needs to consider when deciding upon the best evaluation and treatment strategy. PMID:21686828

  11. 71-year-old woman with dizziness and lipomatous hypertrophy of the left atrium.

    PubMed

    Osbak, Philip Samuel; Kofoed, Klaus Fuglsang

    2009-01-01

    Lipomatous hypertrophy, an unencapsulated atrial mass of adipose tissue, occurs in 1% of the population; the clinical significance of this is uncertain. Diagnosis is by echocardiography, computed tomography or magnetic resonance imaging scan. Surgical intervention is thought to be indicated in patients with obstruction, thromboembolism, uncontrollable arrhythmia or when liposarcoma cannot be excluded. We describe a case in which a 71-year-old woman was diagnosed with lipomatous hypertrophy of the left atrium. The finding of a large atrial mass was unexpected in this case. The clinical implications of the finding are unclear, since the aetiology and prognostic consequences are unknown. As the finding is not that uncommon others may find similar cases. It is therefore important that echocardiographers are aware of this entity and the aspects one needs to consider when deciding upon the best evaluation and treatment strategy. PMID:21686828

  12. 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

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

    PubMed

    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

  14. Aggressive Renal Angiomyolipoma of the Lipomatous Variant With Inferior Vena Cava Thrombus: A Case Report and Review of the Literature*

    PubMed Central

    Fox, Cristina; Salami, Simpa S.; Moreira, Daniel M.; Landis, Gregg S.; Chan, David; Yaskiv, Oksana; Vira, Manish A.

    2013-01-01

    Two variants of renal angiomyolipoma (AML)—classic and epithelioid—have been described. Although the epithelioid variant has been reported to demonstrate an aggressive clinical behavior, classic AML is usually benign. Herein, we report a case of a 42-year-old asymptomatic woman with a lipomatous variant of renal AML associated with an inferior vena cava thrombus managed with radical nephrectomy and caval thrombectomy.

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

    PubMed Central

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

    2016-01-01

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

  16. 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

  17. Lipomatous hypertrophy of the interatrial septum in ECG-gated multislice computed tomography of the heart

    PubMed Central

    Czekajska-Chehab, Elżbieta; Tomaszewska, Monika; Olchowik, Grażyna; Tomaszewski, Marek; Adamczyk, Piotr; Drop, Andrzej

    2012-01-01

    Summary Background Lipomatous hypertrophy of the interatrial septum (LHIS) is a benign disorder characterized by fat accumulation in the interatrial septum (IAS). The purpose of the study was to analyze the incidental detection of LHIS in patients with various clinical conditions, referred to ECG-gated multislice computed tomography (ECG-MSCT) examinations of the heart. Material/Methods The ECG-MSCT examinations of 5786 patients (2839 women; 2947 men), were analyzed. The examinations were performed using 8-row (1015 patients) and 64-row (4771 patients) MSCT, in pre- and postcontrast scanning. We analyzed the shape of the IAS, density and maximal thickness of IAS, the thickness of the epicardial adipose tissue, and the degree of contact of IAS with the ascending aorta and superior vena cava. We also determined body mass index (BMI) in patients with LHIS. Results LHIS was detected in 56 (0.96%) patients, with an average age of 61.5±9.8 years. The mean BMI in the analyzed group was 30.1±4.86. During the end-diastolic phase the thickness of IAS was significantly higher (p<0.0001), and on average equaled 18.3mm. The mean optical density of the IAS was conspicuously higher (p<0.0001) in post-contrast phase than in pre-contrast phase. The thickness of the epicardial adipose tissue in the region of the left atrioventricular groove was on average 15 mm. In all cases the dumbbell shape of IAS was observed. Conclusions The incidental frequency of LHIS occurrence in patients diagnosed with the ECG-MSCT examinations is about 1%. In most subjects it is linked with a higher BMI and increased thickness of the epicardial adipose tissue. PMID:22739745

  18. The diagnosis and treatment of primary adrenal lipomatous tumours in Chinese patients: A 31-year follow-up study

    PubMed Central

    Zhao, Juping; Sun, Fukang; Jing, Xiaolong; Zhou, Wenlong; Huang, Xin; Wang, Haofei; Zhu, Yu; Yuan, Fei; Shen, Zhoujun

    2014-01-01

    Introduction: Adrenal lipomatous tumours (ALTs) are rarely encountered in clinical practice and consequently little is known about their clinical features. Methods: We analyze the clinical features, diagnosis and treatment of ALTs based on cases presenting at a single centre over a 31-year period. We reviewed clinical data from patients with primary adrenal tumours treated at the Ruijin Hospital, Shanghai between January 1980 and December 2010. Results: A total of 73 cases of primary ALTs in 22 men and 51 women (mean age 51.1±14.2 years) were reviewed. The ALTs included 65 myelolipomas (89.0%), 3 lipomas (4.1%), 2 angiomyolipomas (2.7%), 2 teratomas (2.7%), and 1 liposarcoma (1.4%). Of the total 73 patients, 24 of them had tumours in the left adrenal gland, 47 in the right gland and 2 had bilateral tumours. In total, 51 patients underwent open surgery and 22 laparoscopic surgery. Conclusion: Myelolipoma is predominant among the various types of lipomatous adrenal gland tumours; it accounts for about 90% of all cases. Surgery is recommended for tumours ≥3.5 cm in diameter, for all cases of symptomatic tumour, and for cases of teratoma or liposarcoma identified by preoperative imaging. PMID:24678351

  19. A rare case of regressively changed lipomatous hypertrophy of the interatrial septum presenting with anemia and recurrent fever.

    PubMed

    Rob, Daniel; Kuchynka, Petr; Palecek, Tomas; Cerny, Vladimir; Masek, Martin; Vitkova, Ivana; Rucklova, Zuzana; Nemecek, Eduard; Zogala, David; Linhart, Ales

    2016-01-01

    Lipomatous hypertrophy of the interatrial septum (LHIS) is characterized by excessive accumulation of adipose tissue within some segments of the interatrial septum. Only one published case so far describes fever as a presenting feature of LHIS. On the other hand, systemic symptoms including anemia and fever are well-known clinical presentations of cardiac myxomas. We report an unusual case of a 79-year-old woman who was thoroughly but unsuccessfully investigated for recurrent fever and anemia in several specialized departments over the course of 4years. Computed tomography scan showed a pathological mass localized in the interatrial septum and spreading to ascending aorta. Histological analysis of the biopsy samples from surgery revealed the unexpected diagnosis of regressively changed LHIS. We discuss the clinical and pathologic features of this lesion suggesting that its regressive changes may be associated with inflammation and can cause systemic symptoms such as fever and anemia. PMID:26453091

  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. Midline craniofacial malformations with a lipomatous cephalocele are associated with insufficient closure of the neural tube in the tuft mouse

    PubMed Central

    Fong, Keith S. K.; Adachi, Dana A. T.; Chang, Shaun B.; Lozanoff, Scott

    2015-01-01

    Genetic variations affecting neural tube closure along the head result in malformations to the face and brain, posing a significant impact on health care costs and the quality of life. We have established a mouse line from a mutation that arose spontaneously in our wildtype colony that we called tuft. Tuft mice have heritable midline craniofacial defects featuring an anterior lipomatous cephalocele. Whole mount skeletal stains indicated that affected newborns had a broader interfrontal suture where the cephalocele emerged between the frontal bones. Mice with a cephalocele positioned near the rostrum also presented craniofacial malformations such as ocular hypertelorism and midfacial cleft of the nose. Gross and histological examination revealed that the lipomatous cephalocele originated as a fluid filled cyst no earlier than E14.5 while embryos with a midfacial cleft was evident during craniofacial development at E11.5. Histological sections of embryos with a midfacial cleft revealed the cephalic neuroectoderm remained proximal or fused to the frontonasal ectoderm about the closure site of the anterior neuropore, indicating a defect to neural tube closure. We found the neural folds along the rostrum of E9-10.5 embryos curled inward and failed to close as well as embryos with exencephaly and anencephaly at later stages. Whole mount in situ hybridization of anterior markers Fgf8 and Shh indicated closure of the rostral site was compromised in severe cases. We present a model demonstrating how anterior cranial cephaloceles are generated following a defect to neural tube closure and relevance to subsequent craniofacial morphogenesis in the tuft mouse. PMID:24931720

  2. Detection of MDM2/CDK4 amplification in lipomatous soft tissue tumors from formalin-fixed, paraffin-embedded tissue: comparison of multiplex ligation-dependent probe amplification (MLPA) and fluorescence in situ hybridization (FISH).

    PubMed

    Creytens, David; van Gorp, Joost; Ferdinande, Liesbeth; Speel, Ernst-Jan; Libbrecht, Louis

    2015-02-01

    In this study, the detection of MDM2 and CDK4 amplification was evaluated in lipomatous soft tissue tumors using multiplex ligation-dependent probe amplification (MLPA), a PCR-based technique, in comparison with fluorescence in situ hybridization (FISH). These 2 techniques were evaluated in a series of 77 formalin-fixed, paraffin-embedded lipomatous tumors (27 benign adipose tumors, 28 atypical lipomatous tumors/well-differentiated liposarcomas, 18 dedifferentiated liposarcomas, and 4 pleomorphic liposarcomas). Using MLPA, with a cut-off ratio of >2, 36/71 samples (22 atypical lipomatous tumors/well-differentiated liposarcomas, and 14 dedifferentiated liposarcomas) showed MDM2 and CDK4 amplification. Using FISH as gold standard, MLPA showed a sensitivity of 90% (36/40) and a specificity of 100% (31/31) in detecting amplification of MDM2 and CDK4 in lipomatous soft tissue tumors. In case of high-level amplification (MDM2-CDK4/CEP12 ratio >5), concordance was 100%. Four cases of atypical lipomatous tumor/well-differentiated liposarcoma (4/26, 15%) with a low MDM2 and CDK4 amplification level (MDM2-CDK4/CEP12 ratio ranging between 2 and 2.5) detected by FISH showed no amplification by MLPA, although gain of MDM2 and CDK4 (ratios ranging between 1.6 and 1.9) was seen with MLPA. No amplification was detected in benign lipomatous tumors and pleomorphic liposarcomas. Furthermore, there was a very high concordance between the ratios obtained by FISH and MLPA. In conclusion, MLPA proves to be an appropriate and straightforward technique for screening MDM2/CDK4 amplification in lipomatous tumors, especially when a correct cut-off value and reference samples are chosen, and could be considered a good alternative to FISH to determine MDM2 and CDK4 amplification in liposarcomas. Moreover, because MLPA, as a multiplex technique, allows simultaneous detection of multiple chromosomal changes of interest, it could be in the future a very reliable and fast molecular analysis on paraffin-embedded material to test for other diagnostically, prognostically, or therapeutically relevant genomic mutations in lipomatous tumors. PMID:25679065

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

    PubMed Central

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

    2015-01-01

    Soft tissue tumors are rare tumors that show a heterogeneous structure; thus far, their molecular behavior has not been elucidated. The aim of our study was to define the relationship between microvessel density (MVD), evaluated with CD31, and other immunohistochemical markers, such as vascular endothelial growth factor (VEGF), cyclooxygenase-2 (COX-2), CD34, maspin, DOG-1, and c-KIT. Immunostains were done in 55 cases consisting of benign and malignant tumors, such as liposarcomas, dermatofibrosarcomas, and tumors with histiocytic differentiation. Renal tubes were used as external control for VEGF, maspin, and DOG-1. Although DOG-1 is considered a specific marker for gastrointestinal tumors (GISTs), its positivity, correlated with c-KIT and VEGF immunoexpression, was also shown by dermatofibrosarcomas and tumors with histiocytic and lipomatous differentiation, suggesting its possible pro-angiogenic role. Maspin expression was observed in adipose tissue tumors only. Regarding angiogenesis, 31 of the 55 cases were VEGF-positive, such positivity being directly correlated with COX-2 and CD34 positivity as evaluated in the tumor cells and also with MVD. Although no significant differences in angiogenic activity were found between benign and malignant non-lipomatous tumors, the MVD was directly correlated with the histological type/grade of liposarcomas. Based on these aspects, we conclude that VEGF/COX-2-induced angiogenesis is specific for non-lipomatous tumors, whereas liposarcomas are dependent on the VEGF/maspin angiogenic pathway. The DOG-1/c-KIT/VEGF target may be used for further personalized therapy of soft tissue sarcomas. No data about DOG-1 and maspin positivity in liposarcomas have been published to date. PMID:25973067

  4. Persistent High Grade Flurodeoxyglucose Uptake in Lipomatous Hypertrophy of the Interatrial Septum on Dual Time Point Imaging and with Ambient Warming

    PubMed Central

    Kamaleshwaran, K. K.; Sudhakar, N.; Shibu, D. K.; Kurup, E. R. R.; Shinto, Ajit

    2014-01-01

    Lipomatous hypertrophy of the interatrial septum (LHIS) is a relatively uncommon disorder of the heart characterized by benign fatty infiltration of the interatrial septum that usually spares the fossa ovalis. LHIS showing flurodeoxyglucose uptake has been reported, and is presumed to be due to activated brown adipose tissue (BAT). We here report a case of a patient who had isolated mediastinal uptake in interatrial septum, mimicking metastasis. Rescanning with external warming to deactivate BAT and a delayed time point image was done, which showed persistent and progressively increasing metabolic uptake respectively, suggesting that LHIS uptake might be unrelated to activated BAT or inflammation. PMID:25191115

  5. Persistent high grade flurodeoxyglucose uptake in lipomatous hypertrophy of the interatrial septum on dual time point imaging and with ambient warming.

    PubMed

    Kamaleshwaran, K K; Sudhakar, N; Shibu, D K; Kurup, E R R; Shinto, Ajit

    2014-01-01

    Lipomatous hypertrophy of the interatrial septum (LHIS) is a relatively uncommon disorder of the heart characterized by benign fatty infiltration of the interatrial septum that usually spares the fossa ovalis. LHIS showing flurodeoxyglucose uptake has been reported, and is presumed to be due to activated brown adipose tissue (BAT). We here report a case of a patient who had isolated mediastinal uptake in interatrial septum, mimicking metastasis. Rescanning with external warming to deactivate BAT and a delayed time point image was done, which showed persistent and progressively increasing metabolic uptake respectively, suggesting that LHIS uptake might be unrelated to activated BAT or inflammation. PMID:25191115

  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. Successful recovery of acute hemosiderotic heart failure in beta-thalassemia major treated with a combined regimen of desferrioxamine and deferiprone.

    PubMed

    Tavecchia, Luisa; Masera, Nicoletta; Russo, Pierluigi; Cir, Antonio; Vincenzi, Antonella; Vimercati, Chiara; Masera, Giuseppe

    2006-06-01

    We report the case of a 25-years-old male with beta-thalassemia major who developed acute heart failure, with severe systolic dysfunction, resulting from iron overload. Combined iron chelation with desferrioxamine and deferiprone together with standard cardiological treatment induced prompt and complete restoration of the cardiac function. PMID:16785138

  8. Endobronchial Lipomatous Hamartoma: An Incidental Finding in a Patient with Atrial Fibrillation—A Case Report

    PubMed Central

    Schneider, Friederike; Winter, Hauke; Schwarz, Florian; Niederhagen, Manuel; Arias-Herrera, Vivian; Martens, Eimo; Kääb, Stefan; Theiss, Hans

    2012-01-01

    Introduction. Lung hamartomas are the most common benign tumors of the lung. Typically, they are located in the peripheral lung, while an endobronchial localisation is rare. Case Presentation. We present a case with the rare diagnosis of an endobronchial hamartoma as incidental finding in a 69-year-old male, caucasian patient with atrial fibrillation. At first admission, the patient's exertional dyspnea was caused by atrial fibrillation. Relapse of exertional dyspnea in the absence of arrhythmia was due to postobstructive pneumonia caused by an endobronchial hamartoma. Conclusion. Endobronchial tumors such as endobronchial lipoma or hamartoma should be considered as potential causes of exertional dyspnea and thus as differential diagnosis of atrial fibrillation. Although endobronchial hamartomas are benign, resection is recommended to prevent postobstructive lung damage. PMID:22431943

  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. Asymmetrical lipomatosis: report of two cases.

    PubMed Central

    Enzi, G.; Digito, M.; Baldo Enzi, G.; Perin, B.; Fiore, D.

    1985-01-01

    We report on two patients with an asymmetrical expansion of fat tissue. At computed tomography, lipomatous tissue proved to be superficially located in one patient and both subcutaneously and deeply located in the second. Signs and symptoms of a peripheral neuropathy were observed in both patients, who were otherwise asymptomatic. The lipolytic activity in post-heparin plasma was normal in both patients. The fat cell size of lipomatous tissue, obtained in one patient by percutaneous needle biopsy, was higher than that of contralateral, uninvolved adipose tissue. The adipose tissue lipoprotein lipase activity in lipomatous tissue was higher than that in normal tissue. High density lipoprotein (HDL), HDL2 and HDL3 cholesterol values were elevated in both patients but not exceeding 1 standard deviation the values of age and sex matched controls. Isoprenaline-stimulated lipid mobilization was similar in lipomatous and in control tissue. Images Figure 1 Figure 2 Figure 3 Figure 4 PMID:4059137

  11. 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

    2016-05-23

    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

  12. Bone tumors: Diagnosis, treatment and prognosis. Second edition

    SciTech Connect

    Huvos, A.G.

    1987-01-01

    This book presents treatment modalities of all skeletal neoplasms with special emphasis on clinicopathologic correlations and differential diagnosis. This describes the clinical, radiographic, and pathologic features, plus interdisciplinary approaches to treatment for each tumor type and also covers benign and malignant bone-forming and cartilage-forming tumors, tumors of connective tissue origin, tumors of histoiocytic or fibrohistiocytic origin, and tumors and tumor-like lesions of blood vessels arising in the skeletal system.

  13. Sarcomas other than Kaposi sarcoma occurring in immunodeficiency: interpretations from a systematic literature review

    PubMed Central

    Bhatia, Kishor; Shiels, Meredith. S.; Berg, Alexandra; Engels, Eric. A.

    2012-01-01

    Purpose of review In immunodeficiency, an increased sarcoma risk is confirmed for Kaposis sarcoma. Whether rates of other sarcoma subtypes are elevated in the setting of immunodeficiency is not known. We therefore reviewed published case reports on HIV/AIDS patients and organ transplant recipients with sarcomas. For comparison, we assessed sarcomas in the U.S. general population using Surveillance Epidemiology End Results (SEER) data. Findings One hundred seventy-six non-KS sarcomas were identified, 75 in people with HIV/AIDS and 101 in transplant recipients. Leiomyosarcomas (n=101) were the most frequently reported sarcomas, followed by angiosarcomas (n=23) and fibrohistiocytic tumors (n=17). Leiomyosarcomas were reported with two age peaks, in children and young adults. Epstein-Barr virus (EBV) was detected in the tumor cells in 85% and 88% of leiomyosarcomas in HIV-infected people and transplant recipients, respectively. Angiosaromas and fibrohistiocytic tumors were most frequently reported in males. Among kidney transplant recipients, 20% of sarcomas arose at the site of an arteriovenous fistula. In comparison, leiomyoscarcomas, angiosarcomas, and fibrohistiocytic tumors comprised 16.9%, 3.8%, and 18.7% of sarcomas in the U.S. general population. Summary Leiomyosarcoma and angiosarcoma may occur disproportionately in immunodeficiency. Leiomyosarcomas appear etiologically linked to EBV while angiosarcomas might be correlated with an arteriovenous fistula. Additional studies are necessary to understand the contribution of immunodeficiency to the etiology of these sarcomas. PMID:22729152

  14. 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 appears unique of dorso-cervical lipomatosis. Thus, the insults caused by HIV-1 viral infection and/or antiretroviral therapy leading to lipomatosis are acting in a location- and adipocyte lineage-dependent manner. PMID:26305325

  15. [Spinal epidural angiolipoma: a case report].

    PubMed

    Dufrenot, Leïla; Pelé, Eric; Cursolle, Jean-Christophe; Coindre, Jean-Michel; Lepreux, Sébastien

    2010-02-01

    Spinal epidural angiolipoma is a rare tumor revealed by a slowly progressive paraplegia. We reported a case of a 44-year-old female and point out the peculiar pattern of this lesion characterized by the prominence of the vascular component over the lipomatous component. Recognition of this entity is important because this is a benign and curable cause of paraplegia. PMID:20223352

  16. Pediatric Synovial Sarcoma in the Retropharyngeal Space: A Rare and Unusual Presentation

    PubMed Central

    Vaid, Sanjay; Vaid, Neelam; Desai, Sanjay; Vaze, Varada

    2015-01-01

    Synovial sarcomas in the head and neck are extremely rare tumors, especially in the pediatric population. 3–5% of synovial sarcomas occur in the head and neck region displaying varied imaging and histopathological features resulting in frequent misdiagnosis. These tumors have a poor prognosis; hence early diagnosis and accurate classification based on imaging, histopathology, and immunohistochemistry are critical for prompt treatment. To the best of our knowledge, imaging findings of pediatric retropharyngeal lipomatous synovial sarcoma have not been reported to date in English medical literature. We report, for the first time, a rare case of retropharyngeal lipomatous synovial sarcoma in a ten-year-old child and discuss the case-specific imaging findings in our patient using magnetic resonance imaging and computed tomography. PMID:25632364

  17. 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

  18. Neural fibrolipoma of a digital nerve of the index finger without macrodactyly.

    PubMed

    Avci, Gülden; Akan, Mithat; Taylan, Gaye; Akoz, Tayfun

    2010-11-01

    We present a case of neural fibrolipoma arising from the digital nerve in the index finger of the right hand. A 31-year-old man was referred with a soft tissue mass in the ulnar aspect of the index finger of his right hand, which had gradually enlarged during the past seven years. Histological examination of an excisional biopsy specimen identified a neural fibrolipoma, which is a differential diagnosis of a lipomatous lesion of the digits. PMID:20158413

  19. 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.

  20. 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

  1. 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

  2. Cellular neurothekeoma of the eyelid: a unique internal palpebral presentation.

    PubMed

    Lefebvre, Daniel R; Robinson-Bostom, Leslie; Migliori, Michael E

    2014-01-01

    A 50-year-old woman presented with a mass lesion of the inferolateral palpebral conjunctiva similar in appearance to a chalazion, but unusual enough in presentation that excisional biopsy was initially performed. Histopathologic analysis revealed a dermal fibrohistiocytic neoplasm consistent with cellular neurothekeoma. Neurothekeoma is a benign tumor; the cellular variant is rare and of unclear histogenesis. Completely internal eyelid location is particularly rare, with other identifiable case reports of cellular neurothekeoma palpebrae referring to external or unspecified eyelid location. This case provides an example of the chalazion as masquerader and re-emphasizes the importance of maintaining a broad differential diagnosis and high index of suspicion regarding atypically appearing chalazia. PMID:24195988

  3. 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

  4. Giant Cell Angioblastoma in an Adult: a Unique Presentation

    PubMed Central

    Crivelli-Ochsner, Susanna; Bode-Lesniewska, Beata; Nussbaumer-Ochsner, Yvonne; Fuchs, Bruno

    2013-01-01

    Giant cell angioblastoma is a very rare, locally destructive vascular tumor of intermediate malignancy without metastatic potential. There are only a few cases reported in the literature exclusively in the soft tissue of children. For the first time, we report on an adult patient with a giant cell angioblastoma in the popliteal fossa. The therapy included tumor resection with favorable clinical, oncological and functional outcome. Due to its locally destructive nature, surgery remains the mainstay of treatment. Histologically, giant cell angioblastoma is comprised of nodular aggregates of histiocytoid cells arranged around bland angiomatous spaces. Because of insufficient available data in regard to the definition of the entity, diagnostic criteria and its biological potential, it is not included in the new World Health Organization classification of tumors of soft tissue and bone. The differential diagnosis includes plexiform fibrohistiocytic tumor, myofibroma and giant cell fibroblastoma. PMID:24179639

  5. Respiratory Toxicity of Diacetyl in C57BI/6 Mice

    PubMed Central

    Morgan, Daniel L.; Flake, Gordon P.; Kirby, Patrick J.; Palmer, Scott M.

    2009-01-01

    Diacetyl, a component of artificial butter flavoring, is a potential etiological agent of obliterative bronchiolitis (OB); however, the toxic dose and mechanisms of toxicity remain controversial. We evaluated the respiratory toxicity of diacetyl in a murine model using several exposure profiles relevant to workplace conditions at microwave popcorn packaging plants. Male C57B1/6 mice were exposed to inhaled diacetyl across several concentrations and duration profiles, or by direct oropharyngeal aspiration. Effects of diacetyl on the respiratory tract were evaluated by histopathology and BALF analyses. Subacute exposure to 200 or 400 ppm diacetyl for 5 days caused deaths, necrotizing rhinitis, necrotizing laryngitis and bronchitis. Reducing the exposure to 1 h/day (100, 200, 400 ppm) for 4 weeks resulted in less nasal and laryngeal toxicity, but led to peribronchial and peribronchiolar lymphocytic inflammation. A similar pattern was observed with intermittent high-dose exposures at 1200 ppm (15 min, twice a day, 4 weeks). Subchronic exposures to 100 ppm (6 h/day, 12 weeks) caused moderate nasal injury, and peribronchial lymphocytic inflammation accompanied by epithelial atrophy, denudation, and regeneration. Treatment with 400 mg/kg by oropharyngeal aspiration to bypass the nose caused foci of fibrohistiocytic proliferation with little or no inflammation at the junction of the terminal bronchiole and alveolar duct. Depending on the route and duration of exposure, diacetyl causes significant epithelial injury, peribronchial lymphocytic inflammation, or fibrohistiocytic lesions in the terminal bronchioles. Collectively these results indicate that clinically relevant diacetyl exposures result in a pattern of injury that replicates features of human OB. PMID:18227102

  6. 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

  7. Mimicking Liver Iron Overload Using Liposomal Ferritin Preparations

    PubMed Central

    Wood, John C.; Fassler, Joe D.; Meade, Tom

    2010-01-01

    Close monitoring of liver iron content is necessary to prevent iron overload in transfusion-dependent anemias. Liver biopsy remains the gold standard; however, MRI potentially offers a noninvasive alternative. Iron metabolism and storage is complicated and tissue/disease-specific. This report demonstrates that iron distribution may be more important than iron speciation with respect to MRI signal changes. Simple synthetic analogs of hepatic lysosomes were constructed from noncovalent attachment of horse-spleen ferritin to 0.4 ?m diameter phospholipid liposomes suspended in agarose. Graded iron loading was achieved by varying ferritin burden per liposome as well as liposomal volume fraction. T1 and T2 relaxation times were measured on a 60 MHz NMR spectrometer and compared to simple ferritin-gel combinations. Liposomal-ferritin had 6-fold stronger T2 relaxivity than unaggregated ferritin but identical T1 relaxivity. Liposomal-ferritin T2 relaxivity also more closely matched published results from hemosiderotic marmoset liver, suggesting a potential role as an iron-calibration phantom. PMID:15004804

  8. 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

  9. 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

  10. Lipoblastoma and lipoblastomatosis: A clinicopathological study of six cases.

    PubMed

    Ghosh, Parul; Das, Ram Narayan; Ghosh, Ranajoy; Chatterjee, Uttara; Datta, Chhanda; Mishra, Prafulla Kumar

    2015-01-01

    Lipoblastoma and lipoblastomatosis are benign adipocytic tumors seen in children less than 3 years of age. Awareness amongst surgeons of this fast growing lipomatous tumor in young children is important to avoid mutilating surgery and chemotherapy. Histological diagnosis of lipoblastoma is sometimes difficult because of close resemblance with myxoid, round cell, and well-differentiated liposarcoma. We came across a series of six cases of lipoblastoma/lipoblastomatosis, over the last 10 years (2002-2012). Of these, we had three cases of lipoblastomatosis, one of which recurred after 2 months. All others were resected completely and successfully. PMID:26881660

  11. 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

  12. Upper urinary tract lipoma: A case report

    PubMed Central

    Lmezguidi, Khalid; Hajji, Fouad; Sinaa, Mohamed; Janane, Abdellatif; Ghadouane, Mohamed; Ameur, Ahmed; Albouzidi, Abderrahmane; Abbar, Mohamed

    2015-01-01

    Upper urinary tract (UUT) benign tumours are rare. We present a case of UUT lipoma in a 41-year-old man with left flank pain. A computed tomographic urography scan revealed an irregular thickening of the left renal collecting system wall extending from the upper calices to the renal pelvis. The diagnosis of UUT was made and the patient underwent a nephroureterectomy with bladder cuff excision, as standard treatment. However, macroscopic and histological examination revealed a lipomatous tumour with no sign of malignancy. To our knowledge this is the first reported case of its kind of a UUT managed first with a minimally invasive approach. PMID:26425240

  13. [Massive localized lymphedema - a rare entity].

    PubMed

    Decker, P; Görtz, M; Sigmund, G; Kriegsmann, J; Decker, D

    2003-11-01

    Massive localized lymphedema is a rare disease. Only a few cases have been described in the literature. These monstrous pseudotumors of the subcutis are mostly localized in the inguinal region or at the lower extremity. These tumors often show a slow growth for many years. Besides hernias, lipomatous tumors must be distinguished. The therapy of choice is the excision of the tumor. Relapse is not uncommon in the few cases described in the literature so far. The diagnostic procedure and therapy of an 48-year-old women with a massive localized lymphedema weighing about 22 kg are demonstrated and discussed. PMID:14669122

  14. Adiposis dolorosa.

    PubMed

    Schaffer, Panta Rouhani; Hale, Christopher S; Meehan, Shane A; Shupack, Jerome L; Ramachandran, Sarika

    2014-12-01

    We report a 46-year-old woman with a nine-year history of obesity; chronic diffuse pain in the adipose tissue of her medial upper arms, lower trunk, and thighs; multiple biopsy-proven lipomas and angiolipomas; and a lipomatous pseudomass of the breast. Her systemic symptoms included generalized weakness, fatigue, memory impairment, and arthralgias. Although some of the lesions were tender, most were only appreciated with palpation. Her clinical history and histopathologic data suggested adiposis dolorosa (Dercum's disease). Owing to the chronic pain, an interdisciplinary approach with the use of analgesics and doxycycline has been initiated. PMID:25526345

  15. 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

  16. 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

  17. 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

  18. [The new WHO classification and recent results in soft tissue tumor pathology].

    PubMed

    Petersen, I

    2013-09-01

    The new World Health Organization (WHO) classification presents a comprehensive description of soft tissue tumors which was published in book format at the beginning of 2013. Changes have been made relating to the allocation of known entities, e.g. undifferentiated sarcomas are formed into a new group and are not longer assigned to the so-called fibrohistiocytic tumors and new subgroups were incorporated, such as nerve sheath tumors and gastrointestinal stroma tumors which were previously included in the tumor classification of other organ systems. This development is important from the practical point of view as most of relevant soft tissue tumors are now summarized and can be found in a single book. This is also related to the rapid increase in knowledge of the genetics and cell biology of soft tissue tumors. At present there is considerable progress in tumor pathology illustrated by the fact that important new findings have been published after completion of the classification, such as those related to the identification of the recurrent NAB2-STAT6 gene fusion in solitary fibrous tumors and the detection of frequent mutations in the promoter of the hTERT gene in malignant melanoma. In this report some new findings and clinically relevant aspects of soft tissue tumor pathology will be presented. PMID:23925976

  19. Lymphohistiocytoid mesothelioma: a rare lymphomatoid variant of predominantly sarcomatoid mesothelioma

    SciTech Connect

    Henderson, D.W.; Attwood, H.D.; Constance, T.J.; Shilkin, K.B.; Steele, R.H.

    1988-01-01

    Of 394 ''definite'' mesotheliomas entered in the Australian Mesothelioma Surveillance Program, three bore a striking resemblance to malignant lymphoma by conventional light microscopy, and each was misinterpreted at some stage as lymphoma. The lymphoma-like morphology was a combined result of intense lymphoplasmacytic infiltration and the histiocytoid appearances of the underlying neoplastic cell population. Immunocytochemical analysis demonstrated cytokeratins coexpressed with vimentin within the tumor cells, whereas immunoreactivity for leukocyte common antigen was confined to the smaller lymphoid cells. Electron microscopy of two cases revealed a polymorphous population of fibrohistiocytic cells resembling those typical of malignant fibrous histiocytoma, admixed with lymphocytes and plasma cells, but sporadic cells expressed mesothelial properties in the form of sinuous villiform processes, intracytoplasmic neolumina lined by microvilli, and intermediate filaments that were aggregated into tonofilament bundles in some cells. The ultrastructural appearances, the localization of the tumors to the pleura, with effusion, and absence of anterior mediastinal mass lesions facilitated exclusion of lymphocyte-rich thymoma. In addition, a history of prior occupational exposure to asbestos was elicited in each instance. There was no apparent response to radiotherapy or chemotherapy, and the patients died at 4, 5, and 8 months after presentation. Our observations suggest that immunocytochemical or ultrastructural evaluation is mandatory for accurate diagnosis of all pleura-based lymphomatoid lesions with a mixed large and small cell pattern. 42 references.

  20. Characterization of a dermal derived malignant mesenchymal tumor arising in ultraviolet irradiated mice.

    PubMed Central

    Phelps, R. G.; Bernstein, L. E.; Harpaz, N.; Gordon, R. E.; Cruickshank, F. A.; Schwartz, E.

    1989-01-01

    Skh/hr-1 hairless albino mice were irradiated with photocarcinogenic dosages of ultraviolet light for periods of 30 weeks or longer. A high proportion of mice developed pleomorphic spindle cell tumors and epidermal neoplasms of various types. These spindle cell tumors were studied by immunofluorescence and immunoperoxidase techniques and by electron microscopy. Freshly isolated tumor cells were grown in tissue culture. Immunocytochemical analysis showed varying expression of markers of mesenchymal differentiation: vimentin, procollagens I and III, type I collagen, and lysozyme. Electron microscopy showed spindled and cuboidal cells with abundant endoplasmic reticulum, filopodia, and lysosomes, but no intercellular connections. The cells grown in vitro were cuboidal and stellate and also showed mesenchymal differentiation by electron microscopy. These results are perhaps similar to those described for a human actinically produced fibrohistiocytic neoplasm, atypical fibroxanthoma, and this system may provide a useful model of ultraviolet-induced dermal neoplasia. Images Figure 1 Figure 2 Figure 3 Figure 4 Figure 5 Figure 6 Figure 7 Figure 8 Figure 9 Figure 10 Figure 11 Figure 12 Figure 13 Figure 14 PMID:2774057

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

    PubMed Central

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

    2014-01-01

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

  2. 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

  3. 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

  4. 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

  5. Myelolipomatous adrenal masses causing Cushing's syndrome.

    PubMed

    Lamas, C; López, L M; Lozano, E; Atienzar, M; Ruiz-Mondéjar, R; Alfaro, J J; Botella, F

    2009-09-01

    Adrenal myelolipomas are uncommon benign tumors, composed of mature adipose tissue and haematopoietic elements in varying proportions. They are usually asymptomatic, non-functioning adrenal incidentalomas, but there have been a few reports of myelolipomatous masses associated with adrenocortical hypersecretion. We report two cases of large mixed adrenal tumors, with heterogeneous appearance and areas of fat density in imaging techniques, and with autonomous cortisol production leading to Cushing's syndrome. Both underwent adrenalectomy and the histological study showed an adrenocortical adenoma with widespread myelolipomatous metaplasia. Hypercortisolism resolved in the one patient that could be evaluated after surgery. We review all the previous reported cases of hypercortisolism associated with adrenal myelolipomas. We also discuss the recommended diagnostic approach and therapeutic management of adrenal masses of lipomatous appearance. PMID:19373749

  6. 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

  7. 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

  8. Congenital diffuse infiltrating facial lipomatosis

    PubMed Central

    Balaji, S. M.

    2012-01-01

    Congenital diffuse infiltrating lipomatosis of the face (CDIL-F) is a rare pathological entity belonging to the subgroup of lipomatous tumors. Till date only a handful of cases has been documented and known to occur exclusively in infancy. On microscopical examination, it is characterized by diffuse infiltration of mature adipose tissue over normal muscle fibers, rapid growth, associated osseous hyperplasia, and a high recurrence rate after surgical intervention. An attempt has been made to identify and characterize all the 49 documented cases of CDIL-F in literature along with describing a report of a male child with CDIL-F. Follow-up of 8 years has been documented. The pathogenesis and spectrum of treatment modality are discussed with identified clinical features. PMID:23483013

  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. 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

  11. CD-34 is expressed by a distinctive cell population in peripheral nerve, nerve sheath tumors, and related lesions.

    PubMed

    Weiss, S W; Nickoloff, B J

    1993-10-01

    The pattern of CD-34 antigen (human progenitor cell antigen) immunoreactivity was studied within normal nerve, and a variety of nerve sheath and neuroectodermal tumors. Besides normal nerves, 111 soft tissue tumors were studied, including 17 neurofibromas, 10 neurilemomas, 12 malignant peripheral nerve sheath tumors, 1 melanocytic schwannoma, 21 fibroblastic lesions, 31 fibrohistiocytic lesions, seven neuroectodermal lesions, and 10 miscellaneous tumors. CD-34-positive dendritic cells were consistently identified within the endoneurium of normal nerve, all neurofibromas, dermatofibrosarcomas, and Antoni B (but not Antoni A) areas of neurilemomas. CD-34 was not expressed in the majority (eight of 10 cases) of malignant peripheral nerve sheath tumors. CD-34 was also lacking in all fibroblastic lesions (nodular fasciitis, fibromatosis, keloid, fibrosarcoma) and in neuroectodermal tumors that are not generally considered to show true nerve sheath differentiation (neurotropic melanoma, clear cell sarcoma, neuroepithelioma). We conclude that CD-34 (or a closely related epitope) defines a normally occurring nerve sheath cell that appears to be cytologically and immunophenotypically distinct from a fibroblast and conventional Schwann cell. The antigen can also be localized to benign nerve sheath tumors, but tends to be lost in malignant ones. The consistent presence of CD-34 within all 13 cases of dermatofibrosarcoma protuberans can be used as evidence in support of the view that these lesions are variants of nerve sheath tumors, and distinct from benign fibrous histiocytomas which consistently lack the antigen. Finally, expression of CD-34 by one of three giant cell fibroblastomas reinforces the close relationship between this tumor and dermatofibrosarcoma protuberans. PMID:7690524

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

    PubMed Central

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

    1990-01-01

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

  13. Apolipoprotein D in CD34-positive and CD34-negative cutaneous neoplasms: a useful marker in differentiating superficial acral fibromyxoma from dermatofibrosarcoma protuberans.

    PubMed

    Lisovsky, Mikhail; Hoang, Mai P; Dresser, Karen A; Kapur, Payal; Bhawan, Jag; Mahalingam, Meera

    2008-01-01

    More recent techniques to characterize the genetic profile of soft-tissue tumors include the use of gene arrays. Using this technique, Apolipoprotein D (Apo D), a 33-kDa glycoprotein component of high-density lipoprotein, has been found to be highly expressed in dermatofibrosarcoma protuberans. To corroborate these results, we sought to ascertain the utility of Apo D by investigating its sensitivity and specificity in a variety of CD34-positive and CD34-negative cutaneous neoplasms including superficial acral fibromyxoma, sclerotic fibromas, and cellular dermatofibromas. Of interest, we found absence of Apo D expression in all four cases of superficial acral fibromyxoma. Of the remaining CD34-positive lesions, Apo D expression was noted in 35/36 (97%) cases of dermatofibrosarcoma protuberans, 3/5 (60%) giant-cell fibroblastomas, 4/4 (100%) sclerotic fibromas, 8/8 (100%) neurofibromas, and 1/1 (100%) solitary fibrous tumor. Of the CD34-negative lesions, Apo D expression was noted in 2/22 (9%) regular dermatofibroma, 23/45 (51%) cellular dermatofibroma, 10/10 (100%) malignant fibrous histiocytoma, 9/10 (90%) atypical fibroxanthoma, 7/8 (86%) cellular neurothekeoma, 9/9 (100%) malignant melanoma, 8/8 (100%) melanocytic nevi (100%), 0/2 superficial angiomyxoma, 0/15 fibromatosis, 0/1 nodular fasciitis, and 1/2 (50%) desmoplastic fibroblastomas. In summary, our findings indicate that Apo D expression is not specific to dermatofibrosarcoma protuberans. Its principal use as an immunohistochemical adjunct lies in its utility in differentiating superficial acral fibromyxoma from dermatofibrosarcoma protuberans. Although strong positive staining of Apo D in a markedly atypical fibrohistiocytic lesion is suggestive of atypical fibroxanthoma and/or malignant fibrous histiocytoma, further studies with the inclusion of other atypical spindled cell neoplasms are required to conclusively prove the same. PMID:17885669

  14. Oncocytic lipoadenoma of the salivary gland: a clinicopathologic analysis of 7 cases and review of the literature.

    PubMed

    Lau, Sean K; Thompson, Lester D R

    2015-03-01

    Oncocytic lipoadenoma is an exceedingly uncommon neoplasm of the salivary gland composed of oncocytic epithelium and adipose tissue. Retrospective. Seven cases of oncocytic lipoadenoma were analyzed in order to further characterize the clinical and pathologic features of this rare tumor. The patients included six males and one female who ranged from 40 to 83 years of age (mean 62 years) at presentation. All tumors arose in the parotid gland. Grossly, the tumors were solitary, well circumscribed and had light brown to yellow cut surfaces. Histologically, the tumors were composed of an admixed population of oncocytes and adipocytes in varying proportions, with the lipomatous component ranging from 5 to 70 %. Other common features included the presence of serous acini, ductal elements, sebaceous glands, and a patchy chronic inflammation. Clinical follow up information, available in all cases, with a duration of 3-148 months (mean 57 months), showed no evidence of tumor recurrence. Due to its rarity, oncocytic lipoadenoma can pose problems in diagnosis, although the distinctive morphologic features of this neoplasm allow for separation from more commonly recognized oncocytic neoplasms of the salivary glands. PMID:24737102

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

    PubMed Central

    Pezzilli, Raffaele; Calculli, Lucia

    2014-01-01

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

  16. Human lymph node morphology as a function of age and site.

    PubMed Central

    Luscieti, P; Hubschmid, T; Cottier, H; Hess, M W; Sobin, L H

    1980-01-01

    Cervical, axillary, cubital, inguinal, popliteal, and mesenteric lymph nodes from subjects of various ages who had died a sudden death were examined histologically. Care was taken to establish by morphometry the proportional distribution in lymph node cross-sections of cortical, paracortical, and medullary areas. In addition, numbers and surface areas of cross-sectioned germinal centres were registered. Important differences related to age and anatomical site of lymph nodes were established by this survey. Germinal centre formation, particularly evident in infants and children, less so in young adults, and often absent in ageing individuals, was most impressive in lymph nodes normally exposed to antigenic stimulation (mesenteric and cervical lymph nodes). Paracortical and medullary areas exhibited a slight but gradual reduction with advancing age. Replacement of lymphatic parenchyma by fat tissue (lipomatous atrophy) was a characteristic of more peripheral lymph nodes usually subjected to little antigenic stimulation, that is, cubital, axillary, and popliteal nodes. It should be emphasised that both age-related and regional differences have to be taken into account in a meaningful functional interpretation of lymph node morphology. PMID:7400343

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

    PubMed Central

    García-Allut, Alfredo

    2009-01-01

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

  18. 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

  19. 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

  20. MRI Features of Spinal Epidural Angiolipomas

    PubMed Central

    Hu, Su; Hu, Xiao-yun; Wang, Xi-ming; Dai, Hui; Fang, Xiang-ming; Cui, Lei

    2013-01-01

    Objective To describe the MRI findings in ten patients of spinal epidural angiolipoma for differentiated diagnosis presurgery. Materials and Methods Ten surgically proved cases of spinal epidural angiolipomas were retrospectively reviewed, and the lesion was classified according to the MR findings. Results Ten tumors were located in the superior (n = 4), middle (n = 2), or inferior (n = 4) thoracic level. The mass, with the spindle shape, was located in the posterior epidural space and extended parallel to the long axis of the spine. All lesions contained a fat and vascular element. The vascular content, correlating with the presence of hypointense regions on T1-weighted imaging (T1WI) and hyperintense signals on T2-weighted imaging, had marked enhancement. However, there were no flow void signs on MR images. All tumors were divided into two types based on the MR features. In type 1 (n = 3), the mass was predominantly composed of lipomatous tissue (> 50%) and contained only a few small angiomatous regions, which had a trabeculated or mottled appear. In type 2 (n = 7), the mass, however, was predominantly composed of vascular components (> 50%), which presented as large foci in the center of the mass. Conclusion Most spinal epidural angiolipomas exhibit hyperintensity on T1WI while the hypointense region on the noncontrast T1WI indicates to be vascular, which manifests an obvious enhancement with gadolinium administration. PMID:24043978

  1. 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

  2. Imaging of the female perineum in adults.

    PubMed

    Hosseinzadeh, Keyanoosh; Heller, Matthew T; Houshmand, Golbahar

    2012-01-01

    The female perineum is a diamond-shaped structure inferior to the pelvic diaphragm and between the symphysis pubis and coccyx. The perineum is divided into the anterior urogenital triangle and the posterior anal triangle; the vulva represents the external genitalia. A wide array of diseases affect the female perineum in adults. Vulvar trauma, infection (including Fournier gangrene), developmental lesions, and thrombophlebitis can be investigated with various imaging modalities; vulvar malignancies are best imaged with magnetic resonance (MR) imaging to identify local-regional extent of disease. MR imaging is also the modality of choice for imaging of the distal urethra, although imaging of a urethral diverticulum also includes voiding cystourethrography and ultrasonography. The distal vagina at the level of the introitus is best imaged with MR imaging for assessment of Bartholin gland cysts and malignancies. Diseases encountered in the anus include anal carcinoma, fistula-in-ano, and anovaginal fistula, which can all be imaged with various modalities offering different sensitivities and fields of view. Lastly, musculoskeletal neoplasms affecting the perineum and vulva include mesenchymal, lipomatous, nerve sheath, and osseous neoplasms. These neoplasms can be imaged with both computed tomography and MR imaging, although the latter provides higher soft-tissue contrast and greater anatomic detail for diagnosis and determination of the extent of necessary surgery. Familiarity with the anatomy of the female perineum and appropriate selection of imaging modalities facilitate prompt and accurate diagnosis and treatment. PMID:22787005

  3. 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

  4. Fine-Needle Aspiration Cytology of Soft Tissue Sarcoma: Benefits and Limitations

    PubMed Central

    1998-01-01

    Purpose. Examine the benefits and limitations of fine-needle aspiration cytology (FNA) used as the definitive diagnostic method before treatment. Method. Review of the 25 year experience at a multidisciplinary musculo-skeletal centre where FNA is the primary diagnostic approach to soft tissue sarcoma in the extremities and trunk wall and the experience of various experts in the field. Results. FNA has several benefits compared with coarse needle or open surgical biopsy. The most important are rapid preliminary diagnosis, no need for hospitalization and anaesthesia, negligible complications and fear for tumour cell spread. With the collected experience gained during the years a reliable diagnosis of sarcoma is the rule in general and specific-type diagnoses are possible in many histotypes, especially when the cytologic examination is supplemented with ancillary diagnostics. The most important limitations are inability to hit small deep-seated sarcoma and some diagnostic pitfalls such as the correct diagnosis of spindle cell neoplasms, variants of benign lipomatous tumours and ‘new soft tissue tumour entities’. Discussion. Optimal use of FNA calls for certain requirements such as centralization, experience in soft tissue tumour cytology–histopathology, the FNA technique and close co-operation between the orthopaedic surgeon and cytopathologist. PMID:18521248

  5. 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

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

    PubMed Central

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

    2015-01-01

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

  7. Acid ceramidase deficiency associated with spinal muscular atrophy with progressive myoclonic epilepsy.

    PubMed

    Gan, Joanna J; Garcia, Virginie; Tian, Jane; Tagliati, Michele; Parisi, Joseph E; Chung, Jeffrey M; Lewis, Richard; Baloh, Robert; Levade, Thierry; Pierson, Tyler Mark

    2015-12-01

    Spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME) is an extremely rare disorder related to the lysosomal storage disease, Farber lipogranulomatosis. Both disorders are autosomal recessive conditions caused by mutations in the ASAH1 gene encoding acid ceramidase. Farber disease is associated with joint deformities, lipomatous skin nodules, and often is fatal by 2-3 years of age; while SMA-PME is characterized by childhood-onset motor neuron disease and progressive myoclonic epilepsy. We report a case of SMA-PME with a novel mutation in the ASAH1 gene encoding acid ceramidase. The proband presented with childhood-onset of diffuse muscle atrophy and hypotonia. He also had diffuse weakness with greater proximal than distal involvement. Tongue fasciculations were present and his reflexes were either diminished or absent. He ambulated with an unsteady and hesitant gait. He subsequently developed myoclonic epilepsy along with other associated features including tremor, polymyoclonus, and sensorineural hearing loss. Neurophysiological studies revealed a motor neuron disorder and generalized epilepsy. Exome sequencing analysis identified compound heterozygous variants and biochemical analysis indicated acid ceramidase activity was approximately 12 percent of normal controls. Our proband was phenotypically similar to other cases of SMA-PME, albeit with somewhat lesser severity, slower progression, and greater longevity. As lysosomal disorders are sometimes amendable to early interventions, it is important to make early diagnoses in these cases. The combination of motor neuron disease and progressive myoclonic epilepsy should prompt genetic evaluation of ASAH1. PMID:26526000

  8. Posterior mediastinal ganglioneuroma with peripheral replacement by white and brown adipocytes resulting in diagnostic fallacy from a false-positive 18F-2-fluoro-2-deoxyglucose-positron emission tomography finding: a case report

    PubMed Central

    2014-01-01

    Introduction Ganglioneuroma is a rare tumor in the posterior mediastinum; fat-containing ganglioneuromas are rarely reported. The present case report documents a brown fat-containing, posterior mediastinal ganglioneuroma, which has not been reported previously. Radiological examination, in particular 18F-2-fluoro-2-deoxyglucose-positron emission tomography, suggested that the tumor had low-grade malignant potential. This led to uncertainty at preoperative diagnosis. Case presentation An asymptomatic 66-year-old Japanese woman with no significant past medical history was referred for the evaluation of a posterior mediastinal mass. Although its size had not changed in the past 5 years, a malignant lipomatous tumor could not be excluded due to the presence of intratumoral fat and increased 18F-2-fluoro-2-deoxyglucose uptake observed by positron emission tomography imaging. A computed tomography-guided core-needle biopsy revealed a mixture of mature adipocytes, spindle-shaped cells, and fibrotic stroma. Definite diagnosis was not possible, and surgical resection was performed. Three years after the surgery, she remains disease-free. Conclusions Histological diagnosis of the surgically resected mass confirmed ganglioneuroma with substantial amounts of white and brown adipose tissues in peripheral areas. The existence of both ganglion cells and brown fat tissue intensified the accumulation of 18F-2-fluoro-2-deoxyglucose, resulting in a false-positive result by positron emission tomography. Considering this, ganglioneuroma should not be excluded either clinically or pathologically in fat-containing, posterior mediastinal tumors. PMID:25319096

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

    PubMed

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

    2016-03-01

    Goltz syndrome, caused by mutations in PORCN, is an X-linked dominant ectodermal dysplasia which is also known as focal dermal hypoplasia. This name is derived from the predominant pathologic skin findings of the syndrome. Nineteen Goltz-affected participants attended a multidisciplinary scientific and clinical conference convened by the National Foundation for Ectodermal Dysplasia which allowed further characterization of the features of this very rare condition. At birth, the affected areas of skin are typically erythematous and fragile. The hallmark cutaneous features, which vary widely due to mosacism and X-inactivation, include the previously described skin changes of asymmetric Blaschko-linear and reticulated atrophy, pigmentary changes, and telangectasias. Lipomatous changes and papillomas as characteristically defined were reported in the majority of patients. A newly recognized skin finding was progressive hyperpigmented freckling that occurred within the hypopigmented areas which were noted to be photosensitive. Many patients also had a pebbly texture to the central face, dorsal hands and feet. Punctate erosions within the atrophic areas and hypohidrosis were also common. Most had patchy alopecia and many had diffusely thin hair. Scanning electron microscopy of the hair shafts revealed abnormalities in the majority of participants with several different features identified, including atrophic hairs with reduced diameters, markedly flattened hairs as noted in cross-sectional views, trichorrhexis nodosa, pili torti, and pili trianguli et canaliculi. Nail changes included V-nicking and longitudinal ridging of the nail plate, in addition to micronychia. Early recognition of the dermatologic features, in addition to the variable but universal limb anomalies, of Goltz syndrome will allow early and accurate diagnosis without the need for extensive diagnostic studies, while also allowing for accurate prognosis and appropriate genetic counseling. © 2016 Wiley Periodicals, Inc. PMID:26858134

  10. 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

  11. 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

  12. 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

  13. 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 acute inflammatory or neoplastic conditions. (©)RSNA, 2015. PMID:25910185

  14. 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

  15. 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

  16. 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 immunohistochemical studies are of prime importance in the diagnosis of the various lesions as these influence the mode of therapy and subsequent prognosis of the patient. PMID:26674546

  17. 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

  18. Liposarcomas of the posterior mediastinum: clinicopathologic study of 18 cases.

    PubMed

    Ortega, Pablo; Suster, David; Falconieri, Giovanni; Zambrano, Eduardo; Moran, Cesar A; Morrison, Carl; Suster, Saul

    2015-05-01

    Sarcomas of the posterior mediastinum are rare and correspond mostly to neurogenic tumors. We studied 18 cases of liposarcoma presenting in the posterior mediastinum; because of their unusual location, some of these tumors posed difficulties for diagnosis. There were 11 men and 7 women aged 29-87 years (mean: 57). The tumors were large lobulated masses ranging from 6 to 30 cm in greatest diameter (median: 15 cm). Symptoms included cough, dysphagia, and chest pain. Four patients were asymptomatic and the tumors were discovered incidentally on chest X-rays. Histologically, 10/18 (55%) cases were atypical lipomatous tumor/well-differentiated liposarcoma, one of which harbored a smooth muscle component (lipoleiomyosarcoma); 3/18 (16%) were de-differentiated liposarcoma, one of which also harbored a smooth muscle component; 3/18 (16%) were myxoid/round cell liposarcoma; and 2/18 (11%) were pleomorphic liposarcoma. The cases of well-differentiated liposarcoma were mostly of the sclerosing type; however, five of them also showed prominent myxoid stroma closely resembling myxoid liposarcoma. Immunohistochemistry was performed in selected cases; 4/8 cases tested showed focal positivity for S-100 protein and 5/8 cases showed nuclear positivity for MDM-2. The three cases of myxoid liposarcoma were all negative for MDM2. Both cases of lipoleiomyosarcoma showed positivity for SMA and desmin in the smooth muscle component. FISH was performed in two cases of well-differentiated liposarcoma and high levels of amplification of MDM2 at 12q13-15 were observed; the CHOP translocation at 12q13.1-q13.2 was absent in both cases. Complete surgical excision was performed in 11 cases; however, negative surgical margins were achieved only in four. Clinical follow-up ranging from 1 to 192 months (median 28 months) was available for 13 patients. Two patients with myxoid/round cell liposarcoma died of tumor after 4 months and 3 years, respectively. Both had widely disseminated metastatic disease at the time of death. Six patients (6/10) with well-differentiated liposarcoma were alive and well with no evidence of disease (at 4, 7, 12, 15, and 25 months) and three (3/10) were alive with disease (at 3, 4, and 6 months). One patient with well-differentiated liposarcoma had multiple recurrences and a liver metastasis after 14 years; however, the patient was alive and well at 16 years. Five patients were lost to follow-up. In general, the biologic behavior of liposarcomas in the posterior mediastinum seems to correlate well with the histologic subtype and mirrors that of their counterpart in the retroperitoneum. PMID:25475695

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

    SciTech Connect

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

    2014-05-15

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

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

    SciTech Connect

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

    2009-09-15

    Purpose: The purpose of this study is to establish the in vivo verification of proton beam path by using proton-activated positron emission distributions. Methods: A total of 50 PET/CT imaging studies were performed on ten prostate cancer patients immediately after daily proton therapy treatment through a single lateral portal. The PET/CT and planning CT were registered by matching the pelvic bones, and the beam path of delivered protons was defined in vivo by the positron emission distribution seen only within the pelvic bones, referred to as the PET-defined beam path. Because of the patient position correction at each fraction, the marker-defined beam path, determined by the centroid of implanted markers seen in the post-treatment (post-Tx) CT, is used for the planned beam path. The angular variation and discordance between the PET- and marker-defined paths were derived to investigate the intrafraction prostate motion. For studies with large discordance, the relative location between the centroid and pelvic bones seen in the post-Tx CT was examined. The PET/CT studies are categorized for distinguishing the prostate motion that occurred before or after beam delivery. The post-PET CT was acquired after PET imaging to investigate prostate motion due to physiological changes during the extended PET acquisition. Results: The less than 2 deg. of angular variation indicates that the patient roll was minimal within the immobilization device. Thirty of the 50 studies with small discordance, referred as good cases, show a consistent alignment between the field edges and the positron emission distributions from the entrance to the distal edge. For those good cases, average displacements are 0.6 and 1.3 mm along the anterior-posterior (D{sub AP}) and superior-inferior (D{sub SI}) directions, respectively, with 1.6 mm standard deviations in both directions. For the remaining 20 studies demonstrating a large discordance (more than 6 mm in either D{sub AP} or D{sub SI}), 13 studies, referred as motion-after-Tx cases, also show large misalignment between the field edge and the positron emission distribution in lipomatous tissues around the prostate. These motion-after-Tx cases correspond to patients with large changes in volume of rectal gas between the post-Tx and the post-PET CTs. The standard deviations for D{sub AP} and D{sub SI} are 5.0 and 3.0 mm, respectively, for these motion-after-Tx cases. The final seven studies, referred to as position-error cases, which had a large discordance but no misalignment, were found to have deviations of 4.6 and 3.6 mm in D{sub AP} and D{sub SI}, respectively. The position-error cases correspond to a large discrepancy on the relative location between the centroid and pelvic bones seen in post-Tx CT and recorded x-ray radiographs. Conclusions: Systematic analyses of proton-activated positron emission distributions provide patient-specific information on prostate motion ({sigma}{sub M}) and patient position variability ({Sigma}{sub p}) during daily proton beam delivery. The less than 2 mm of displacement variations in the good cases indicates that population-based values of {Sigma}{sub p} and {sigma}{sub M} used in margin algorithms for treatment planning at the authors' institution are valid for the majority of cases. However, a small fraction of PET/CT studies (approximately 14%) with {approx}4 mm displacement variations may require different margins. Such data are useful in establishing patient-specific planning target volume margins.

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

    PubMed

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

    2000-01-01

    Spontaneous rodent nervous system tumors, in comparison to those of man, are less well differentiated. Among the central nervous system (CNS) tumors, the "embryonic" forms (medulloblastoma, pineoblastoma) occur both in rodents and humans, whereas the human "adult" forms (gliomas, ependymomas, meningiomas) have fewer counterparts in rodents. In general, the incidence of spontaneous CNS tumors is higher in rats (>1%) than in mice (>0.001%). A characteristic rat CNS tumor is the granular cell tumor. Usually it is associated with the meninges, and most meningeal tumors in rats seem to be totally or at least partly composed of granular cells, which have eosinophilic granular cytoplasm, are periodic acid-Schiff reaction (PAS)-positive, and contain lysosomes. Such tumors are frequently found on the cerebellar surface or at the brain basis. Rat astrocytomas are diffuse, frequently multifocal, and they invade perivascular spaces and meninges. The neoplastic cells with round to oval nuclei and indistinct cytoplasm grow around preexisting neurons, producing satellitosis. In large tumors, there are necrotic areas surrounded by palisading cells. Extensive damage of brain tissue is associated with the presence of scavenger cells that react positively with histiocytic/macrophage markers. The neoplastic astrocytes do not stain positively for glial fibrillary acidic protein; they probably represent an immature phenotype. In contrast to neoplastic oligodendroglia, they bind the lectin RCA-1. Astrocytomas are frequently located in the brain stem, especially the basal ganglia. Rat oligodendroglial tumors are well circumscribed and frequently grow in the walls of brain ventricles. Their cells have water-clear cytoplasm and round, dark-staining nuclei. Atypical vascular endothelial proliferation occurs, especially at the tumor periphery. Occasionally in the oligodendrogliomas, primitive glial elements with large nuclei occur in the form of cell groups that form rows and circles. Primitive neuroectodermal tumors of rats, such as pineal tumors or medulloblastomas, appear to have features similar to those found in man. In mice, the meningeal tumors are mostly devoid of granular cells and the astrocytomas are similar to those occurring in rats, whereas spontaneous oligodendrogliomas are observed extremely rarely. Tumorlike lesions, such as lipomatous hamartomas or epidermoid cysts, are occasionally encountered in the mouse CNS. It is suggested that we classify rodent CNS lesions as "low grade" and "high grade" rather than as "benign" and "malignant." The size of CNS tumors is generally related to their malignancy. Tumors of the peripheral nervous system are schwannomas and neurofibromas or neurofibrosarcomas consisting of Schwann cells, fibroblasts, and perineural cells. Well-differentiated schwannomas are characterized by S-100 positivity and the presence of basement membrane. They show either Antoni A pattern with fusiform palisading cells or Antoni B pattern, which is sparsely cellular and has a clear matrix. The rat develops specific forms of schwannomas in the areas of the submandibular salivary gland, the external ear, the orbit, and the endocardium. Spontaneous ganglioneuromas occur in the rat adrenal medulla or thyroid gland. Compared to experimentally induced neoplasms, the spontaneous tumors of the rodent nervous system are poor and impractical models of human disease, although they may serve as general indicators of the carcinogenic potential of tested chemicals. PMID:10669006