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Sample records for hemosiderotic fibrohistiocytic lipomatous

  1. Hemosiderotic fibrohistiocytic lipomatous lesion: early pleomorphic hyalinizing angiectatic tumor?

    PubMed

    Luzar, Bostjan; Gasljevi?, Gorana; Jurici?, Vesna; Bracko, Matej

    2006-05-01

    Hemosiderotic fibrohistiocytic lipomatous lesion (HFLL) and early pleomorphic hyalinizing angiectatic tumor (PHAT) are characterized histologically by an admixture of fat, moderately cellular fascicles of hemosiderin-laden spindle cells growing in a perivascular, periadipocytic and septal pattern, as well as the presence of macrophages and chronic inflammatory cells. In contrast to a suggested reactive nature of HFLL, PHAT is regarded as a non-metastasizing tumor of uncertain lineage in the recent World Health Organization classification of soft tissue tumors. Reported herein is the case of a 47-year-old woman with an unencapsulated and irregularly circumscribed recurring lesion in the ankle/foot region that developed following ankle distortion and that fulfills histological criteria for both HFLL and early PHAT. In summary, the present case suggests a reactive over-neoplastic nature of HFLL and confirms profound histological similarities with early PHAT. Until more data become available on the biological potential of HFLL/early PHAT, radical surgical excision and follow up of the patient remains the best treatment option. PMID:16669878

  2. Lipomatous hamartoma of mitral valve.

    PubMed

    Bhat, Seetharama Ps; Gowda Sl, Girish; Chikkatur, Raghavendra; Nanjappa, Manjunath C

    2016-01-01

    Primary cardiac tumors are very rare, and tumors arising from cardiac valves are extremely rare. We present a case of lipomatous hamartoma of the mitral valve in a young female. This is the 6th case of lipomatous hamartoma of the mitral valve to be reported. We discuss the operative and histopathological findings. PMID:24821963

  3. 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

  4. Lipomatous muscular 'dystrophy' of Piedmontese cattle.

    PubMed

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

    2012-11-01

    Lipomatous myopathy is a degenerative muscle pathology characterized by the substitution of muscle cells with adipose tissue, sporadically reported in cattle, pigs, and rarely in sheep, horses and dogs. This study investigated the pathology of this myopathy in 40 muscle samples collected from regularly slaughtered Piedmontese cattle living in Piedmont region (Italy). None of the animals showed clinical signs of muscular disease. Muscle specimens were submitted to histological and enzymatic investigations. Gross pathology revealed a different grade of infiltration of adipose tissue, involving multiple or single muscles. The most affected regions were the ventral abdomen and the shoulders, especially the cutaneous muscles and the muscles of the thoracic group. Morphological staining revealed an infiltration of adipose tissue varying in distribution and severity, changes in muscle fibre size and increased number of fibres with centrally located nuclei, suggesting muscle degeneration-regeneration. Necrosis and non-suppurative inflammatory cells were also seen. Furthermore, proliferation of connective tissue and non-specific myopathic changes were present. Chemical and physical characteristics of the affected tissue were also evaluated. The authors discuss about the aetiopathogenesis and classification of this muscle disorder whose histological lesions were similar to those reported in human dystrophies. PMID:22717052

  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. 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

  10. Consistent t(1;10) with Rearrangements of TGFBR3 and MGEA5 in both Myxoinflammatory Fibroblastic Sarcoma and Hemosiderotic Fibrolipomatous Tumor

    PubMed Central

    Antonescu, Cristina R; Zhang, Lei; Nielsen, G Petur; Rosenberg, Andrew E; Cin, Paola Dal; Fletcher, Christopher DM

    2012-01-01

    Despite their shared predilection for superficial soft tissue of distal extremities and frequent local recurrences, myxoinflammatory fibroblastic sarcoma (MIFS) and hemosiderotic fibrolipomatous tumor (HFLT) have distinct morphologic appearances. Recent studies have identified an identical t(1;10)(p22;q24) in 5 cases of MIFS and 2 of HFLT, as well as common amplifications on 3p11-12. In order to investigate further their potential relationship and to determine the incidence of t(1;10) in a larger cohort, we subjected 7 MIFS, 14 HFLT, and 3 cases with mixed morphology, to molecular and cytogenetic analysis. FISH analysis for rearrangements of TGFBR3 on 1p22 and of MGEA5 on 10q24 was performed in all cases, while the status of VGLL3 gene amplification on 3p12.1 was investigated in 12 cases. Conventional karyotyping was performed in one HFLT and two cases with mixed MIFS/HFLT histology. Overall 83% of cases showed rearrangements in both TGFBR3 and MGEA5. All three cases with mixed features of MIFS and HFLT were positive. Cytogenetic analysis performed in three cases confirmed an unbalanced der(10)t(1;10)(p22;q24). VGLL3 gene amplification was noted in 10/12 cases of both histologies. The high incidence of t(1;10) in MIFS and HFLT reinforces a shared pathogenetic relationship. Furthermore, the co-existence of both components either synchronously or metachronously in a primary or subsequent recurrence, suggest either different morphologic variants or different levels of tumor progression of a single biologic entity. FISH analysis for TGFBR3 and MGEA5 rearrangements can be applied as a reliable diagnostic molecular test when confronted with limited material or a challenging diagnosis. PMID:21717526

  11. 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.

  12. Lipomatous hemangiopericytoma of the stomach: A case report and a review of literature

    PubMed Central

    Jing, Hong-Biao; Meng, Qing-Da; Tai, Yan-Hong

    2011-01-01

    Lipomatous hemangiopericytomas (LHPCs) are rare soft-tissue tumors that are histologically characterized by hemangiopericytomatous vasculature and the presence of mature adipocytes. We present the clinicopathological features of a case of gastric LHPC in a 56-year-old female, along with a literature review. Endoscopy and endoscopic ultrasound showed a submucosal tumor 0.8 cm across in the greatest dimension in the lesser curvature side of the gastric antrum. Grossly, the well-defined mass had a solid and tan-white cut surface admixed with myxoid regions and yellowish areas. Histological examination revealed a submucosal well-circumscribed lesion composed of cellular nodules with the classic appearance of an hemangiopericytoma admixed with clusters and lobules of mature adipocytes. The ill-defined tumor cells had weakly eosinophilic cytoplasm and contained spindled nuclei with occasional small nucleoli. Nuclei atypia and mitoses were absent, and no cellular atypia, necrosis or vascular invasion was observed. Immunohistochemistry showed that the tumor cells were diffusely positive for CD34, CD99, and vimentin and were focally reactive for bcl-2. This is the first known report of an LHPC in the stomach. The patient was followed for 12 mo without any evidence of metastasis or recurrence. PMID:22147987

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

    PubMed

    Brasileiro, Luciana Ferreira; Dias Pereira, Luis Antonio Violin; Miranda, Mrcio 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

  14. MDM2 Amplification in Problematic Lipomatous Tumors: Analysis of FISH Testing Criteria.

    PubMed

    Clay, Michael R; Martinez, Anthony P; Weiss, Sharon W; Edgar, Mark A

    2015-10-01

    To discriminate lipomas from atypical lipomatous tumor/well-differentiated liposarcoma (ALT/WDL) we perform fluorescence in situ hybridization (FISH) for MDM2 amplification in several problematic situations: "lipomas" >10 cm, lesions with equivocal atypia, recurrent "lipomas," all retroperitoneal/pelvic/abdominal "lipomas", and in cases not fitting the above criteria but having worrisome clinical or radiologic features. To ascertain the validity of these criteria, we have reviewed our experience with 301 consecutive differentiated lipomatous tumors in which the diagnosis of ALT could not be established on the basis of histologic sections and in which FISH was performed on the basis of the above criteria. The final diagnosis was based on MDM2 amplification status. Given the nature of this study to evaluate difficult lesions, most cases included (74%) were received in consultation. This enhanced our study series for borderline cases, and the data presented may not be generalizable to adipocytic tumors seen outside a subspecialty setting. Of 301 cases, 108 proved to be ALT/WDL (36%). The most common test indication was size >10 cm (n=187), followed by equivocal atypia (n=145), retroperitoneal/pelvic/abdominal location (n=86), recurrence (n=33), and clinical concern (n=12). Of the tumors >10 cm, 68 (36%) proved to be ALT/WDL, whereas the remainder were interpreted as lipoma or its variants (eg, spindle cell or pleomorphic lipoma). The 2 groups did not differ statistically in size, although ALTs consistently occurred in patients above 50 years of age. Of the cases with equivocal atypia, 72 (50%) proved to be ALT/WDL. Those in the retroperitoneum/abdomen/pelvis were ALT/WDL in 30 cases (35%), and those that had recurred were ALT in 18 cases (55%). Recurrence, atypia, and having multiple indications for testing were more common in ALT than in benign lesions (P=0.02, 0.0001, 0.0012, respectively). No ALT/WDL occurred in the hands and feet, and only a single ALT/WDL was superficial (1 ALT/WDL vs. 60 lipoma/spindle cell or pleomorphic lipoma). Small (<10 cm) retroperitoneal tumors without additional features were always benign (n=9). On the basis of our results, FISH testing is recommended for: (1) recurrent lesions; (2) deep extremity lesions that are >10 cm in patients over 50 years of age; (3) in cases with equivocal atypia; (4) in lesions of the retroperitoneum/pelvis/abdomen, and in special clinical situations as directed by treating clinicians. Testing is low yield in superficial lesions, in small extremity lesions without additional indicators for testing, in large extremity lesions without additional features in patients under the age of 50, and in lesions arising in the hands/feet. More evidence is needed regarding testing in small retroperitoneal lesions without additional features. By adopting these criteria, we could have avoided testing 74 cases, missing a single superficial ALT/WDL. PMID:26146760

  15. 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

  16. 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

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

    PubMed 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

  18. 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

  19. 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

  20. A large well-differentiated spindle cell liposarcoma (atypical spindle cell lipomatous tumor): clinicopathologic and immunohistochemical analysis. Diagnostic and therapeutic features.

    PubMed

    Pironi, Daniele; Vendettuoli, Maurizio; Tesori, Chiara; Salvati, Bruno; Pontone, Stefano; Pietraforte, Elena; Filippini, Angelo

    2014-01-01

    Liposarcoma is one of the more common types of soft tissue sarcomas, presenting with a wide spectrum of clinical behaviour. It is subdivided into five distinct histologic subtypes: well-differentiated, mixoid, pleomorphic, dedifferentiated and mixed-type. Well-differentiated liposarcoma accounts for about 40% to 45% of all liposarcomas therefore representing the larger subgroup of adipocytic malignancies. Well-differentiated spindle cell liposarcoma is an extremely rare subtype of well-differentiated liposarcoma/atypical lipomatous tumor which is different from the other subtypes clinicopathologically, genetically and prognostically. The most common frequent locations of lipomatous tumours are: limbs, groin, scrotum, abdominal wall and retroperitoneal area. MRI examination is a highly reliable method in the diagnosis of these neoplasms. Surgical management includes wide resection of the tumour with or without additional postoperative radiotherapy and/or chemotherapy. We describe a case of 68-year old patient with large well-differentiated spindle cell liposarcoma of the left thigh. We are discussing the clinical findings, diagnosis and therapeutic approach. In these cases, a preoperative disease classification discriminating the tumour nature is closely linked to the correct surgical management of patients. PMID:25624426

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

    PubMed Central

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

    2015-01-01

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

  2. Pleomorphic hyalinizing angiectatic tumor: analysis of 41 cases supporting evolution from a distinctive precursor lesion.

    PubMed

    Folpe, Andrew L; Weiss, Sharon W

    2004-11-01

    The pleomorphic hyalinizing angiectatic tumor (PHAT) is a rare, low-grade neoplasm that features atypical stromal cells containing hemosiderin, partially thrombosed ectatic vessels with circumferential hyalinization, and a variable inflammatory infiltrate. Over the years, we have occasionally observed a monomorphic partially myxoid spindle cell component (provisionally termed "early PHAT") co-existing with classic PHAT. In some instances, this monomorphic lesion occurs by itself, suggesting an early stage in the evolution of PHAT. To explore this hypothesis and to better define the long-term behavior of PHAT, we have reviewed our experience with these lesions. Forty-one cases were identified from consultation files. They occurred chiefly in adults (median 51 years, range 10-79 years) of either sex (23 female, 18 male), ranged from 0.3 to 19.7 cm (median 5.6 cm), and involved the subcutis of the ankle/foot (N = 15), leg (N = 10), thigh (N = 6), and other sites. Thirteen tumors had been present for more than 1 year prior to biopsy. Fifteen tumors consisted entirely of typical PHAT. Twelve cases conformed to "early PHAT," lacked fully developed features of PHAT, and showed instead short fascicles of hemosiderin-stippled spindled cells that infiltrated fat and surrounded congeries of small, damaged vessels. With close scrutiny, all contained rare pleomorphic cells with intranuclear pseudo-inclusions, as seen in typical PHAT. Fourteen cases contained both classic and early PHAT, in variable proportions. Follow-up was available in 18 patients (mean 84 months, median 52 months; range 13-420 months). Six of 18 patients developed recurrences, 1 with classic PHAT, 1 with mixed early-classic PHAT, and 4 with early PHAT. Following resection, 16 are disease free and 2 have persistent disease. None has developed metastasis. Based on the histologic overlap between early and classic PHAT, the presence of early PHAT at the periphery of classic PHAT, and the admixture of both patterns within the same tumor, we conclude that early PHAT represents a precursor lesion for PHAT. It appears essentially identical to the lesion termed "hemosiderotic fibrohistiocytic lipomatous lesion," supporting the notion that the latter is a neoplastic rather than a reactive lesion. PHAT should be considered mesenchymal tumors of intermediate malignancy, given their high rate of (sometimes aggressive) local recurrence. PMID:15489645

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

    PubMed

    Riddle, Nicole N; Gardner, Jerad M

    2015-09-01

    Soft tissue pathology is a rapidly changing subspecialty. New entities are described relatively often, and new molecular findings for soft tissue tumors are reported in the literature almost every month. This article summarizes the major features and diagnostic approach to several recently characterized entities: superficial CD34-positive fibroblastic tumor, fibrosarcoma-like lipomatous neoplasm, angiofibroma of soft tissue, low-grade sinonasal sarcoma with neural and myogenic features, malignant gastrointestinal neuroectodermal tumor, hemosiderotic fibrolipomatous tumor, and epithelioid inflammatory myofibroblastic sarcoma. Additionally, the article also provides a summary table of recent molecular findings in soft tissue tumors. PMID:26297066

  4. Pleomorphic hyalinizing angiectatic tumor arising in the thigh: A case report.

    PubMed

    Suzuki, Kayo; Yasuda, Taketoshi; Hori, Takeshi; Oya, Takeshi; Watanabe, Kenta; Kanamori, Masahiko; Kimura, Tomoatsu

    2014-04-01

    Pleomorphic hyalinizing angiectatic tumors (PHATs) are rare non-metastasizing tumors of uncertain lineage. The current study presents a case of PHAT arising in the thigh of a 68-year-old female and examines the clinicopathological characteristics of the tumor. Magnetic resonance imaging (MRI) revealed an intramuscular mass located in the adductor longus. The tumor was surrounded by lipomatous tumor. Wide resectioning was performed for the internal tumor, whereas intralesional resectioning was performed for the external tumor. Histopathologically, the internal lesion was diagnosed as a PHAT and the external lesion was diagnosed as an hemosiderotic fibrolipomatous lesion (HFLL). No recurrence or metastases were identified during the 6-year follow-up period. As the adipose tissue surrounding the PHAT resembled a HFLL, therefore, the association between 'early PHAT' and HFLL is discussed. Although PHATs may represent low-grade sarcomas, HFLLs may be benign tumors. PMID:24944701

  5. Pleomorphic hyalinizing angiectatic tumor arising in the thigh: A case report

    PubMed Central

    SUZUKI, KAYO; YASUDA, TAKETOSHI; HORI, TAKESHI; OYA, TAKESHI; WATANABE, KENTA; KANAMORI, MASAHIKO; KIMURA, TOMOATSU

    2014-01-01

    Pleomorphic hyalinizing angiectatic tumors (PHATs) are rare non-metastasizing tumors of uncertain lineage. The current study presents a case of PHAT arising in the thigh of a 68-year-old female and examines the clinicopathological characteristics of the tumor. Magnetic resonance imaging (MRI) revealed an intramuscular mass located in the adductor longus. The tumor was surrounded by lipomatous tumor. Wide resectioning was performed for the internal tumor, whereas intralesional resectioning was performed for the external tumor. Histopathologically, the internal lesion was diagnosed as a PHAT and the external lesion was diagnosed as an hemosiderotic fibrolipomatous lesion (HFLL). No recurrence or metastases were identified during the 6-year follow-up period. As the adipose tissue surrounding the PHAT resembled a HFLL, therefore, the association between early PHAT and HFLL is discussed. Although PHATs may represent low-grade sarcomas, HFLLs may be benign tumors. PMID:24944701

  6. An unexpected cause of hemoptysis: endobronchial lipomatous hamartoma.

    PubMed

    Sarioglu, Nurhan; Susur, Alev; Goksel, Tuncay; Paksoy, Serpil; Erel, Fuat

    2014-01-01

    Hamartomas are the most common benign tumors of the lung. Endobnronchial hamartomas are even rarer and infrequently causes hemoptysis. We report a case of endobronchial hamartoma that was originating from a segment bronchus and invisible in chest X-ray. A 63-year-old man was admitted to hospital with hemoptysis. A CT scan revealed endobronchial mass obstructing anterior bronchus of the right lower lob of the right lung. It wasn't radiographically presented. Flexible bronchoscopy detected a polypoid mass (1.5 x 1.0 cm) that arising from the posterior wall of the anterior segment of right lower lob. Histopathologic examination revealed lipoumatous hamartoma. It was resected with an electro-surgical snare. Cryotherapy was applied to residual lesion on surface of the bronchus. The patient was successfully recovered. In conclusion, lipoumatous hamartoma may presented as rare cause of hemoptysis. Endoscopic treatment is safe and currently modality used for select cases. PMID:24783918

  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. Unusual Thymic Hyperplasia Mimicking Lipomatous Tumor in an Eight-Year-Old Boy with Concomitant Pericardial Lipomatosis and Right Facial Hemihypertrophy

    PubMed Central

    Kim, Yoo Jin; Cheon, Jung-Eun; Lim, Yun-Jung; Kim, In-One; Yeon, Kyung Mo; Jung, Kyeong Cheon; Byun, Sun-Ju

    2011-01-01

    We report a case of thymic hyperplasia accompanied by pericardial lipomatosis and right facial hemihypertrophy in an 8-year-old boy. On imaging studies, the hyperplastic thymus had prominent curvilinear and nodular fatty areas simulating a fat-containing anterior mediastinal mass, which is an unusual finding in children. To our knowledge, this is the first report on a child with a combination of thymic hyperplasia, pericardial lipomatosis, and right facial hemihypertrophy. The radiologic findings are presented with a brief discussion. PMID:21603297

  9. CLOVE Syndrome (Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi): CNS Malformations and Seizures may be a Component of this Disorder

    PubMed Central

    Gucev, Zoran S.; Tasic, Velibor; Jancevska, Aleksandra; Konstantinova, Marina Krstevska; Pop-Jordanova, Nada; Trajkovski, Zoran; Biesecker, Leslie G.

    2010-01-01

    A newborn girl was found to have a massive lymphatic truncal vascular malformation with overlying cutaneous venous anomaly associated with overgrown feet and splayed toes. These manifestations comprise the recently described CLOVE syndrome. She also had cranial asymmetry and developed generalized seizures, which were treated with anticonvulsants. Cranial CT showed encephalomalacia, widening of the ventricles and the sulci, hemimegalencephaly (predominantly white matter) and partial agenesis of corpus callosum. Review of the literature identified several other patients with CLOVE syndrome, some of whom were misdiagnosed as having Proteus syndrome, with strikingly similar manifestations. We conclude that CNS manifestations including hemimegalencephaly, dysgenesis of the corpus callosum, neuronal migration defects, and the consequent seizures, may be a more common manifestation of CLOVE syndrome than is presently appreciated. PMID:18816642

  10. Unusual thymic hyperplasia mimicking lipomatous tumor in an eight-year-old boy with concomitant pericardial lipomatosis and right facial hemihypertrophy.

    PubMed

    Kim, Yoo Jin; Kim, Woo Sun; Cheon, Jung-Eun; Lim, Yun-Jung; Kim, In-One; Yeon, Kyung Mo; Jung, Kyeong Cheon; Byun, Sun-Ju

    2011-01-01

    We report a case of thymic hyperplasia accompanied by pericardial lipomatosis and right facial hemihypertrophy in an 8-year-old boy. On imaging studies, the hyperplastic thymus had prominent curvilinear and nodular fatty areas simulating a fat-containing anterior mediastinal mass, which is an unusual finding in children. To our knowledge, this is the first report on a child with a combination of thymic hyperplasia, pericardial lipomatosis, and right facial hemihypertrophy. The radiologic findings are presented with a brief discussion. PMID:21603297

  11. Hemihyperplasia-multiple lipomatosis syndrome: an underdiagnosed entity in children with asymmetric overgrowth.

    PubMed

    Boybeyi, Ozlem; Alanay, Yasemin; Kayikio?lu, Aycan; Karnak, Ibrahim

    2010-01-01

    Hemihyperplasia can be found as an isolated abnormality, or as a predominant associated feature of an asymmetric overgrowth syndrome. This report describes 2 patients with hemihyperplasia-multiple lipomatosis syndrome. The finding of hemihyperplasia prompts careful examination for associated lipomatous lesions. Close follow-up is required because progressive growth of lipomatous lesions can be encountered as well as recurrence after excision. PMID:20105568

  12. Computed tomography of deep fat masses in multiple symmetrical lipomatosis

    SciTech Connect

    Enzi, G.; Biondetti, P.R.; Fiore, D.; Mazzoleni, F.

    1982-07-01

    Deep fat masses were evaluated by computed tomography (CT) in 15 patients with multiple symmetrical lipomatosis. In 4 patients, peritracheal accumulations of fat were observed. In 3 of them, tracheal compression by lipomatous tissue was demonstrated: 2 were asymptomatic and the third severe respiratory insufficiency secondary to blockage of the air was by the vocal cords as the result of recurrent nerve palsy. In 6 patients, lipomatous tissue occupied the potential space between the spina scapulae and the trapezius, supraspinatus, and infraspinatus muscles. In 2, calcification of lipomatous masses was observed. There was no relationship between extension of subcutaneous fat and accumulation at deep sites. CT facilitates early detection of peritracheal lipomatous tissue and is helpful in follow-up when deep fat accumulation is responsible for space-occupying lesions requiring surgery.

  13. 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

    2016-03-29

    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

  14. Occupational risk factors for sarcoma subtypes.

    PubMed

    Hoppin, J A; Tolbert, P E; Flanders, W D; Zhang, R H; Daniels, D S; Ragsdale, B D; Brann, E A

    1999-05-01

    Herbicides, chlorophenols, and other occupational exposures are suspected risk factors for soft-tissue sarcoma, but the epidemiologic evidence is inconsistent. Given that soft-tissue sarcomas represent a heterogeneous mix of cancer subtypes and that these subtypes have different disease patterns by race, sex, and age at diagnosis, studying all soft-tissue sarcomas combined may mask subtype-specific associations. Using the Selected Cancers Study, a large population-based case-control study of sarcoma conducted among U.S. men aged 30 to 60 in 1984 to 1988, we explored the occupational risk factors for soft-tissue sarcoma subtypes and skeletal sarcoma. The analysis included 251 living sarcoma cases (48 dermatofibrosarcoma protuberans, 32 malignant fibrohistiocytic sarcoma, 67 leiomyosarcoma, 53 liposarcoma, and 51 skeletal sarcoma) and 1908 living controls. Exact conditional logistic regression models suggested patterns of subtype specificity for occupational exposures. Self-reported herbicide use was associated with malignant fibrohistiocytic sarcoma (OR = 2.9, 95% CI = 1.1-7.3). We found elevated risks for chlorophenol exposure and cutting oil exposure and malignant fibrohistiocytic sarcoma and leiomyosarcoma. We found no occupational risk factor for liposarcoma. Polytomous regression models identified different odds ratios across subtypes for plywood exposure and exposure to wood and saw dust. Although exploratory, this analysis suggests that occupational risk factors for sarcoma are not uniform across subtypes. PMID:10230842

  15. 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

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

    PubMed Central

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

    2015-01-01

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

  17. Complex spinal-paraspinal fast-flow lesions in CLOVES syndrome: analysis of clinical and imaging findings in 6 patients.

    PubMed

    Alomari, A I; Chaudry, G; Rodesch, G; Burrows, P E; Mulliken, J B; Smith, E R; Fishman, S J; Orbach, D B

    2011-01-01

    CLOVES syndrome is a complex disorder of congenital lipomatous overgrowth, vascular malformations, epidermal nevi, and skeletal/scoliosis/spinal anomalies. We report the occurrence of spinal-paraspinal fast-flow lesions within or adjacent to the truncal overgrowth or a cutaneous birthmark in 6 patients with CLOVES syndrome. PMID:21310861

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

    PubMed Central

    Costamagna, Daniela; Erra, Stefania; Durando, Riccardo

    2009-01-01

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

  19. Characterising benign fibrous soft-tissue tumours in adults: why is it so difficult and what do we need to know?

    PubMed

    Ng, E; Tandon, A A; Ho, B C S; Chong, B K

    2015-07-01

    Fibrous, myofibroblastic, and fibrohistiocytic soft-tissue tumours are amongst the most common benign soft-tissue lesions encountered in clinical practice. They demonstrate varied biological behaviour and imaging characteristics. Benign fibroblastic lesions, such as nodular fasciitis, are small, have a self-limited course, and rarely recur after excision, whereas deep fibromatosis and plexiform fibrohistiocytic tumours tend to exhibit more aggressive features and often have high recurrence rates. MRI with its superior tissue contrast, multiplanar imaging capability, and lack of ionising radiation is regarded as the preferred method of tumour evaluation, tissue characterisation, and assessment of treatment response. Histopathological features are depicted at MRI, reflecting the amount and distribution of the cellular and fibrous matrix. Cellular tumours tend to show higher T2 signal intensity and post-contrast enhancement as compared to tumours with greater collagenous content, which appear dark and show less enhancement. Awareness of MR characteristics, pathological behaviour, and common sites of occurrence of fibrous soft-tissue tumours will help radiologists to determine the appropriate differential diagnosis and guide patient management. PMID:25782339

  20. 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. 35% 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

  1. 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.

  2. Syndromes with focal overgrowth in infancy: diagnostic approach and surgical treatment.

    PubMed

    Mirastschijski, Ursula; Altmann, Silke; Lenz-Scharf, Olivia; Muschke, Petra; Schneider, Wolfgang

    2012-02-01

    Syndromes with focal overgrowth are sporadic diseases and comprise Proteus syndrome and congenital lipomatous overgrowth, vascular malformations, and epidermal naevi (CLOVE) syndrome, and isolated hemihyperplasia. We describe 3 children classified according to standard criteria with dysregulated growth of various tissues that was excised, together with excess toes, and tumours. Correct classification facilitates diagnosis and operations. Interdisciplinary treatment and follow-up are recommended to prevent disfiguration. PMID:21446802

  3. Syndromes with focal overgrowth in infancy: Diagnostic approach and surgical treatment.

    PubMed

    Mirastschijski, Ursula; Altmann, Silke; Lenz-Scharf, Olivia; Muschke, Petra; Schneider, Wolfgang

    2010-02-17

    Abstract Syndromes with focal overgrowth are sporadic diseases and comprise Proteus syndrome and congenital lipomatous overgrowth, vascular malformations, and epidermal naevi (CLOVE) syndrome, and isolated hemihyperplasia. We describe 3 children classified according to standard criteria with dysregulated growth of various tissues that was excised, together with excess toes, and tumours. Correct classification facilitates diagnosis and operations. Interdisciplinary treatment and follow-up are recommended to prevent disfiguration. PMID:19634071

  4. Cerebellar Liponeurocytoma, an Unusual Tumor of the Central Nervous System - Ultrastructural Examination.

    PubMed

    Kakkar, Aanchal; Sable, Mukund; Suri, Vaishali; Sarkar, Chitra; Garg, Ajay; Satyarthee, Guru Dutta; Sharma, Mehar Chand

    2015-12-01

    Cerebellar liponeurocytoma is a rare tumor of the central nervous system which shows neuronal and variable astrocytic differentiation, along with foci of lipomatous differentiation. It is usually located in the cerebellum, and may be mistaken for medulloblastoma with lipidized cells or lipomatous ependymoma. Histopathological examination, supplemented by immunohistochemistry and electron microscopy, is required to distinguish between these entities. This 35-year-old male presented with vomiting and headache for three months, followed by gait imbalance. Neurological examination showed positive cerebellar signs with ataxic gait. Magnetic resonance imaging showed a lesion measuring 4.4?cm?4.3?cm?3.9?cm involving the cerebellum. The patient underwent midline suboccipital craniotomy to excise the tumor. Histopathological examination showed a circumscribed, cellular tumor composed of round to polygonal cells with moderate cytoplasm and minimal pleomorphism. Clear intracytoplasmic vacuoles were seen within the tumor cells. These tumor cells were immunopositive for synaptophysin, NSE, and MAP-2, confirming their neurocytic origin. On ultrastructural examination, lipid vacuoles as well as dense-core neurosecretory granules were identified within these neurocytic cells, confirming the diagnosis of liponeurocytoma. No cilia, microvilli, or gap junctions were identified in the tumor cells, ruling out the possibility of lipomatous ependymoma. The differentiation of liponeurocytoma from its morphological mimics is imperative, as their treatment differs drastically. The role of electron microscopy is extremely important in this differential diagnosis. PMID:26107691

  5. 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

  6. Coexistent orbital dermatofibrosarcoma protuberans and bilateral lymphoid hyperplasia.

    PubMed

    Gonnering, R S; Sonneland, P R

    1987-01-01

    A 72-year-old man had secondary orbital involvement with dermatofibrosarcoma protuberans 36 years after removal of the initial tumor on his forehead. In addition, multiple bilateral inferior orbital masses were present, which on pathologic examination proved to be reactive lymphoid hyperplasia. Serum immunoelectrophoresis revealed polyclonal elevations of IgG and IgA. Dermatofibrosarcoma protuberans is part of the spectrum of fibrohistiocytic tumors that also includes atypical fibroxanthoma and benign and malignant fibrous histiocytoma. The exact cell of origin of dermatofibrosarcoma protuberans is controversial, though immunohistochemical study of our specimen supports the fibroblast. The coexistence of this rare orbital tumor with noncontiguous reactive lymphoid hyperplasia is unique, and points out the fact that multiple orbital masses may indicate more than one underlying disease process. PMID:3154572

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

    PubMed Central

    Salazar, Miguel Fdo.; Estrada Hernndez, Mara del Roco; Gmez Apo, Erick; Chvez Macas, Laura G.; Rodrguez lvarez, 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

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

    PubMed

    Salazar, Miguel Fdo; Estrada Hernndez, Mara Del Roco; Gmez Apo, Erick; Chvez Macas, Laura G; Rodrguez lvarez, Carlos Alfonso

    2015-09-01

    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

  9. Pulmonary mycobacterial spindle cell pseudotumor in a lung transplant patient: progression without therapy and response to therapy.

    PubMed

    Franco, M; Amoroso, A; Burke, A P; Britt, E J; Reed, R M

    2015-06-01

    Mycobacterial spindle cell pseudotumor (MSP) represents a rare, non-malignant, mass-forming reaction to various mycobacterial infections, typically occurring in immunocompromised patients. It is characterized by the proliferation of spindle-shaped fibrohistiocytic cells without the formation of epithelioid granulomas. Without staining for acid-fast bacilli, histological distinction from other spindle cell lesions, including malignancy, can be difficult. Most of the MSP cases reported in the literature have involved lymph nodes, skin, spleen, or bone marrow, but rarely involve the lung. MSP predominately occurs in patients who are immunosuppressed. We present a patient with MSP of the transplanted lung caused by non-tuberculous mycobacteria, in whom both the natural course of the untreated pseudotumor as well as the response to antimycobacterial treatments were observed. PMID:25846671

  10. The significance of double phenotypic patterns and markers in human sarcomas. A new model of mesenchymal differentiation.

    PubMed Central

    Brooks, J. J.

    1986-01-01

    Six soft-tissue sarcomas with two separate and juxtaposed histologic patterns were selected for immunohistochemical analysis. The first pattern was represented by five phenotypes (schwannian-skeletal muscle [Triton], cartilagenous, synovial, adipocytic, and smooth muscle). In each case the second histologic pattern resembled the fibrohistiocytic phenotype, ie, malignant fibrous histiocytoma (MFH). No other histologic patterns were identified. Appropriate cell markers were demonstrated in each of the first patterns; these were not detected in the second patterns. In contrast, the second pattern in all cases expressed alpha 1-antichymotrypsin, a marker commonly found in fibrohistiocytic lesions; this was not identified in any of the first patterns. This loss of one cell-specific marker and gain of another is termed the "antigenic shift" phenomenon and appeared to foretell the emergence of a true second phenotype (the same in each of these cases, which could be termed "dedifferentiated" sarcomas). Therefore, it is hypothesized that MFH is a final common pathway for some types of sarcomas and is the result of tumor progression or "dedifferentiation." The practical implications of this hypothesis concern the approach to sarcoma differential diagnosis and the meaning of an MFH pattern in both metastatic and primary sites. On a theoretic level, this hypothesis and the antigenic shift phenomenon force a reconsideration of the pathways of soft-tissue differentiation. A new model of mesenchymal differentiation incorporating these concepts is described and supported. It provides an explanation for a number of facts in soft-tissue pathology, and its predictions can be tested. Images Figure 1 Figure 2 Figure 3 Figure 4 Figure 5 PMID:3490790

  11. 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

  12. CT of a parathyroid lipoadenoma. Case report.

    PubMed

    Frennby, B; Nyman, U; Aspelin, P; Udn, P; Ljungberg, O

    1993-07-01

    A 54-year-old woman with primary hyperparathyroidism underwent parathyroid exploration following negative ultrasonography, CT and 99Tc-201Tl scintigraphy. A 2 x 1.5 x 1-cm large mass dorsal to the midportion of the left thyroid lobe was extirpated and a hyperfunctional lipoadenoma containing 70% or more of fatty tissue was verified microscopically. Retrospective evaluation of CT revealed a well demarcated lipomatous mass with a homogeneous density similar to that of subcutaneous fat corresponding to the surgical finding. PMID:8318300

  13. 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

  14. Prognostic value of HMGA2, CDK4, and JUN amplification in well-differentiated and dedifferentiated liposarcomas.

    PubMed

    Sada-Bouzid, Esma; Burel-Vandenbos, Fanny; Ranchre-Vince, Dominique; Birtwisle-Peyrottes, Isabelle; Chetaille, Bruno; Bouvier, Corinne; Chteau, Marie-Christine; Peoc'h, Michel; Battistella, Maxime; Bazin, Audrey; Gal, Jocelyn; Michiels, Jean-Franois; Coindre, Jean-Michel; Pedeutour, Florence; Bianchini, Laurence

    2015-11-01

    HMGA2, CDK4, and JUN genes have been described as frequently coamplified with MDM2 in atypical lipomatous tumor, well-differentiated liposarcoma, and dedifferentiated liposarcoma. We studied the frequency of amplification of these genes in a series of 48 dedifferentiated liposarcomas and 68 atypical lipomatous tumors/well-differentiated liposarcomas. We correlated their amplification status with clinicopathological features and outcomes. Histologically, both CDK4 (P=0.007) and JUN (P=0.005) amplifications were associated with dedifferentiated liposarcoma, whereas amplification of the proximal parts of HMGA2 (5'-untranslated region (UTR) and exons 1-3) was associated with atypical lipomatous tumor/well-differentiated liposarcoma (P=0.01). CDK4 amplification was associated with axial tumors. Amplification of 5'-UTR and exons 1-3 of HMGA2 was associated with primary status and grade 1. Shorter overall survival was correlated with: age >64 years (P=0.03), chemotherapy used in first intent (P<0.001), no surgery (P=0.003), grade 3 (P<0.001), distant metastasis (P<0.001), node involvement (P=0.006), and CDK4 amplification (P=0.07). In multivariate analysis, distant metastasis (HR=8.8) and grade 3 (HR=18.2) were associated with shorter overall survival. A shorter recurrence-free survival was associated with dedifferentiated liposarcoma (P<0.001), grade 3 (P<0.001), node involvement (P<0.001), distant metastasis (P=0.02), recurrent status (P=0.009), axial location (P=0.001), and with molecular features such as CDK4 (P=0.05) and JUN amplification (P=0.07). Amplification of 5'-UTR and exons 1-3 (P=0.08) and 3'-UTR (P=0.01) of HMGA2 were associated with longer recurrence-free survival. Distant metastasis was associated with shorter recurrence-free survival (HR=5.8) in multivariate analysis. Dedifferentiated liposarcoma type was associated with axial location, grade 3 and recurrent status. In conclusion, we showed that the amplification of HMGA2 was associated with the atypical lipomatous tumor/well-differentiated liposarcoma histological type and a good prognosis, whereas CDK4 and JUN amplifications were associated with dedifferentiated liposarcoma histology and a bad prognosis. In addition, we also provided the first description of the molecular evolution of a well-differentiated liposarcoma into four successive dedifferentiated liposarcoma relapses, which was consistent with our general observations. PMID:26336885

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

    PubMed Central

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

    2013-01-01

    Congenital infiltrating lipomatosis of the face (CIL-F) is a rare lipomatous lesion with diffuse fatty infiltration of tissues and hyperplasia of underlying bone. We report clinical and CT findings in an unusual case of CIL-F presenting with progressive hemifacial asymmetry, manifesting as severely restricted mouth opening owing to exophytic temporomandibular joint ankylosis. The role of imaging in diagnosis is presented with a review of the literature. Differential diagnosis of CIL-F and its exclusion as a cause of hemifacial hyperplasia are also discussed. PMID:22241871

  16. Interdisciplinary management of congenital infiltrating lipomatosis.

    PubMed

    Tracy, Jeremiah C; Klement, Giannoula Lakka; Scott, Andrew R

    2013-12-01

    Congenital infiltrating lipomatosis is a benign yet locally invasive lipomatous tumor. Current treatment involves surgical excision and reconstruction of craniofacial deformity. Invasion of vital structures often makes complete resection problematic and recurrence is common. We present the case of a 15-year-old female patient with extensive congenital infiltrating lipomatosis involving the left face. A broad treatment algorithm was devised involving surgical resection as well as targeted chemotherapy. At 18 month follow-up the patient demonstrated improved facial symmetry without evidence of disease progression. Combining surgical and medical intervention may allow for a synergistic approach to controlling this rare disease. PMID:24035641

  17. Macrodystrophia lipomatosa involving multiple nerves.

    PubMed

    Rohilla, Seema; Jain, Nitin; Sharma, Rambaksh; Dhaulakhandi, Dhara B

    2012-03-01

    Macrodystrophia lipomatosa (MDL), a rare congenital disorder, is considered by some to be a localized form of Proteus syndrome. The implication of the PTEN (phosphatase and tensin homolog deleted on chromosome 10) gene in both strengthens this belief. We present a case who had MDL in multiple nerve territories--all on the same side of the body--with hypertrophy of mainly fibroadipose tissue throughout their distribution, thus pointing to a form of localized hemihypertrophy; both hemihypertrophy and lipomatous tumors are components of Proteus syndrome. PMID:21948052

  18. 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

  19. Primary mediastinal dedifferentiated liposarcoma resected by lateral thoracotomy with video-assisted thoracoscopic surgery

    PubMed Central

    Hamanaka, Kazutoshi; Ohashi, Masahiko; Nakamura, Toshitsugu

    2016-01-01

    Primary dedifferentiated liposarcoma originating in the mediastinum is extremely uncommon. Here, we report a case of mediastinal dedifferentiated liposarcoma. A 74-year-old man was admitted to our hospital with a left intrathoracic tumor ?10 cm in diameter. Computed tomography that was taken in another hospital 2 years before the initial visit to our hospital had shown a lipomatous tumor ?3 cm in diameter adjacent to the left lower pulmonary vein. The tumor was resected by left lateral thoracotomy with video-assisted thoracoscopic surgery. Pathological examination revealed primary mediastinal dedifferentiated liposarcoma. No evidence of recurrence has been seen as of 8 months postoperatively. PMID:26724326

  20. 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

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

    PubMed

    Changchien, Yi-Che; Bocskai, Pl; Kovcs, Ilona; Hargitai, Zoltn; Kollr, Sndor; Trk, Mikls

    2014-12-01

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

  2. 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

  3. Hemihyperplasia-multiple lipomatosis syndrome (HHML): a challenge in spinal care.

    PubMed

    Schulte, Tobias L; Liljenqvist, Ulf; Grgens, Heike; Hackenberg, Lars; Bullmann, Viola; Tinschert, Sigrid

    2008-10-01

    A 15-year-old girl developed a progressive paraparesis over a period of six months, secondary to spinal cord compression by a lipomatous mass and anomalies of the vertebral column. Clinically, a right hemihyperplasia affecting the trunk and lower limb was evident, as well as a right convex lumbar scoliosis. CT and MRI demonstrated severe spinal cord compression resulting from intraspinal lipomatosis, overgrowth of right facet joints (T8 to L5), and kyphoscoliosis. Surgical decompression was undertaken. A lumbar scoliosis of 48 degrees was partially corrected by means of dual-rod instrumentation. The neurological deficit improved significantly, and ambulation was progressively restored. The patient carried the diagnosis of Proteus syndrome for several years, but reevaluation of clinical features prompted the diagnosis of Hemihyperplasia Multiple Lipomatosis syndrome (HHML). This rare sporadic disorder is often confused with Proteus syndrome. As in Proteus syndrome, spinal cord compression in patients with HHML can result from lipomatous infiltration and/or significant spinal abnormalities including kyphoscoliosis and overgrowth. HHML and Proteus syndrome are discussed and compared with special emphasis on spinal and orthopaedic pathologies. PMID:19058713

  4. 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

  5. [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

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

    PubMed

    Rocas, Delphine; Thivolet-Bjui, Franoise; Tronc, Franois; Chalabreysse, Lara

    2015-12-01

    Calcifying fibrous tumor is a rare soft tissue benign tumor (OMS2002). Some pleural localisations are described, which affect slightly older individuals than the other soft tissue forms. The calcifying fibrous tumor is included in the 2004World Health Organization classification of pleural tumors. A pleural tumor located in the right inferior pulmonary lobe is diagnosed in a 59-year-old man. This pleural tumor is macroscopically well-circumscribed. Histologically, the rare spindle tumoral cells are located between bundles of a collagenous tissue, sometimes hyalinized, with psammomatous or dystrophic calcifications. The tumoral cells have a fibrohistiocytic origin. They stain positively for antibodies against vimentin, factor XIIIa, CD68, CD163, CD34. Antibodies against smooth muscle actin, desmin, PS100, ALK1and EBV are negative. Main differencial diagnoses are other benign pleural tumors (solitary fibrous tumor, inflammatory myofibroblastique tumor), some malignant tumors (desmoplastic malignant pleural mesothelioma) and pleural pseudotumors (calcified pleural plaques, chronic fibrous pleuritis, amylose, hyalinizing granuloma). Our case is the 15thpleural calcifying fibrous tumor being reported. PMID:26608111

  7. A case of hepatic inflammatory pseudotumor protruding from the liver surface.

    PubMed

    Obana, Takashi; Yamasaki, Shuuji; Nishio, Kazushi; Kobayashi, Yasushi

    2015-10-01

    We report a case of a resected hepatic inflammatory pseudotumor (IPT) protruding from the liver surface. A 69-year-old male with diabetes mellitus was admitted to hospital for investigation of an hepatic mass. An irregularly shaped, low-echoic mass measuring 21נ18mm was identified by ultrasound in S6. On computed tomography, the tumor appeared to be growing extrahepatically. After contrast enhancement, the lesion showed persistent peripheral enhancement, while the central part was hypoenhanced. On T2-weighted magnetic resonance imaging (MRI), the central portion of the lesion was hyperintense compared with the periphery. EOB-enhanced MRI revealed the mass to be being hypointense in contrast to the surrounding liver parenchyma in the hepatobiliary phase. On diffusion-weighted images, the lesion was hyperintense. Percutaneous biopsy was not attempted to avoid tumor cell dissemination. The patient underwent partial hepatectomy because of suspected malignancy. Histopathological examination of the resected specimen revealed fibrotic tissue and abundant vessels in the periphery, while a massive infiltration of inflammatory cells and fewer vessels were observed in the center. The patient was finally diagnosed with hepatic IPT of the fibrohistiocytic type. PMID:26412330

  8. Myxoid dermatofibroma on a great toe: a case report

    PubMed Central

    Moon, Ahrim; Yoon, Nara; Kim, Hyun-Soo

    2015-01-01

    Dermatofibroma is a common benign fibrohistiocytic tumor with many clinicopathological variants. Myxoid dermatofibroma is one of these variants, which is characterized by marked stromal mucin deposition. This report presents a case of myxoid dermatofibroma on a great toe that had been slowly growing for two years. Histopathologically, the relatively well-circumscribed dermal tumor was separated from the epidermis by a small grenz zone. The tumor tissue consisted of oval to spindle-shaped cells with well-defined cell borders and spindly condensed nuclei. No cytologic atypia or mitotic figures were found. Although most of the tumor cells were embedded in a prominently myxoid stroma, typical features of classic dermatofibroma including a storiform growth pattern and more densely packed collagen were observed at the periphery. Immunohistochemically, the tumor cells showed positive staining for CD68 and CD99, and negative staining for CD34 and S-100. Histopathological differential diagnoses of myxoid dermatofibroma include soft tissue neoplasms with myxoid tumor stroma, such as superficial acral fibromyxoma, cellular digital fibroma, superficial angiomyxoma, myxoid dermatofibrosarcoma protuberans and low-grade fibromyxoid sarcoma. Immunohistochemical staining can be useful in the differential diagnosis of these tumors. This case highlights the challenges encountered in the histopathological interpretation of myxoid dermatofibroma. Pathologists should keep in mind the diagnosis of myxoid dermatofibroma when dealing with myxoid neoplastic lesions arising on acral sites. PMID:26261677

  9. 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

  10. 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.

  11. Huge lipoma of the right parotid gland: Case report and review of 42 cases.

    PubMed

    Baykul, Timuin; Ayd?n, M As?m; F?nd?k, Yavuz; Y?ld?r?m, Derya

    2016-01-01

    Lipomas are rarely found in the parotid gland region. Because of their rarity at this site, they are not often considered in the differential diagnosis of parotid tumors. The parotid lipoma is a slowly growing, asymptomatic, freely movable, soft mass. Preoperative diagnosis is generally difficult. We present a case of a slowly enlarging mass of the parotid region in a 44-year-old man that proved to be a lipomatous tumor of the parotid gland. We also review 42 other cases from the literature. Our patient's huge tumor was located in the superficial lobe of the gland, and a parotidectomy with preservation of the facial nerve was performed. There was no complication or recurrence of the tumor after a follow-up of 1 year. PMID:26829698

  12. 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

  13. 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

  14. 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

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

    PubMed

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

    2016-01-01

    Epicardial adipose tissue is present in normal healthy individuals. It is a unique fat depot that, under physiologic conditions, plays a cardioprotective role. However, excess epicardial adipose tissue has been shown to be associated with prevalence and severity of atrial fibrillation. In arrhythmogenic right ventricular cardiomyopathy and myotonic dystrophy, fibrofatty infiltration of the myocardium is associated with ventricular arrhythmias. In the ovine model of ischemic cardiomyopathy, the presence of intramyocardial adipose or lipomatous metaplasia has been associated with increased propensity to ventricular tachycardia. These observations suggest a role of adipose tissue in the pathogenesis of cardiac arrhythmias. In this article, we review the role of cardiac adipose tissue in various cardiac arrhythmias and discuss the possible pathophysiologic mechanisms. PMID:26277495

  16. 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

  17. Spindle Cell Lipoma of the Neck: Review of the Literature and Case Report

    PubMed Central

    Machol, Jacques A.; Cusic, Jenna G.; O'Connor, Elizabeth A.; Sanger, James R.

    2015-01-01

    Summary: Spindle cell lipomas (SCL) are benign, slow growing tumors arising most frequently in the subcutaneous tissue of the upper back, posterior neck, and shoulders in males aged 4070 years. Local excision is generally curative. Classification of lipomatous tumors has progressed recently, and tumors of similar morphology and unusual presentation are increasingly reported, thereby making correct diagnosis even more vital. SCL require pathologic differentiation from liposarcoma, other spindle cell neoplasms, and myxoid lesions for treatment purposes. Cytology, histology, and cytogenetics, in conjunction with clinical presentation, are paramount in arriving at the correct diagnosis of spindle cell lipoma. We present a case report with characteristics typical of an SCL along with a literature review to further elucidate the diagnosis and surgical treatment of this soft tissue tumor. PMID:26893975

  18. Congenital infiltrating lipomatosis of the face with ipsilateral hemimegalencephaly, band heterotopia, and hypertrophy of brainstem and cerebellum.

    PubMed

    Maruyama, Koichi; Okumura, A; Negoro, T; Watanabe, K

    2010-06-01

    The simultaneous appearance of congenital infiltrating lipomatosis of the face that causes facial hemihypertrophy and ipsilateral hemimegalencephaly is extremely rare. We report a 4-year-old boy with congenital facial asymmetry and infantile-onset epilepsy. Magnetic resonance imaging (MRI) results led to the diagnosis of infiltrating lipomatosis of the face; the diagnosis was confirmed on the basis of the results of pathological examinations. Additionally, brain MRI revealed ipsilateral hemimegalencephaly, associated with band heterotopia and the hemihypertrophy of the ipsilateral brainstem and cerebellum. He had no nevi or other skin abnormalities suggesting neurocutaneous syndrome. His seizures were so intractable that they necessitated functional hemispherectomy. The lipomatous lesion was successfully resected without relapse. Psychomotor delay and left hemiplegia were observed at the last follow-up. PMID:20859836

  19. Somatic Mosaic Activating Mutations in PIK3CA Cause CLOVES Syndrome

    PubMed Central

    Kurek, KyleC.; Luks, ValerieL.; Ayturk, UgurM.; Alomari, AhmadI.; Fishman, StevenJ.; Spencer, SamanthaA.; Mulliken, JohnB.; Bowen, MargotE.; Yamamoto, GuilhermeL.; Kozakewich, HarryP.W.; Warman, MatthewL.

    2012-01-01

    Congenital lipomatous overgrowth with vascular, epidermal, and skeletal anomalies (CLOVES) is a sporadically occurring, nonhereditary disorder characterized by asymmetric somatic hypertrophy and anomalies in multiple organs. We hypothesized that CLOVES syndrome would be caused by a somatic mutation arising during early embryonic development. Therefore, we employed massively parallel sequencing to search for somatic mosaic mutations in fresh, frozen, or fixed archival tissue from six affected individuals. We identified mutations in PIK3CA in all six individuals, and mutant allele frequencies ranged from 3% to 30% in affected tissue from multiple embryonic lineages. Interestingly, these same mutations have been identified in cancer cells, in which they increase phosphoinositide-3-kinase activity. We conclude that CLOVES is caused by postzygotic activating mutations in PIK3CA. The application of similar sequencing strategies will probably identify additional genetic causes for sporadically occurring, nonheritable malformations. PMID:22658544

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

    PubMed Central

    Karaosmano?lu, Ali Devrim; Onur, Mehmet Ruhi; Shirkhoda, Ali; Ozmen, Mustafa; Hahn, Peter F.

    2015-01-01

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

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

    PubMed

    Karaosmano?lu, Ali Devrim; Onur, Mehmet Ruhi; Shirkhoda, Ali; Ozmen, Mustafa; Hahn, Peter F

    2015-01-01

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

  2. Paediatric giant cervicomediastinal thymolipoma.

    PubMed

    Patel, Ramnik V; Evans, Kathryn; Sau, Indranil; Huddart, Simon

    2014-01-01

    We report a case of a 11-year-old boy who presented with a massive soft tissue right cervical painless and progressive lesion displacing trachea to the left and extending into the anteriosuperior mediastinum which was diagnosed to be a lipomatous mass on chest CT scan. Subsequent biopsy and total excision proved it to be a giant cervicomediastinal thymolipoma. It was successfully excised with excellent prognosis and long-term results. A giant paediatric cervicomediastinal thymolipoma is a rare, benign, mediastinal mass of thymic origin. It may remain asymptomatic despite massive size and up to 50% in some series are associated with autoimmune disease. CT scan gives fat density and encapsulated benign nature and biopsy usually establishes the diagnosis. Preoperative tissue diagnosis is important as now the availability of thoracoscopic option is best suited to reduce morbidity. Treatment of choice is total excision using open surgical, minimal invasive techniques or robotic surgery and the prognosis is excellent. PMID:24849642

  3. Paratesticular Liposarcoma-Masquerading as a Testicular Tumour

    PubMed Central

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

    2014-01-01

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

  4. [Gastroduodenal invagination and upper gastrointestinal hemorrhage secondary to gastric lipoma].

    PubMed

    Ortiz de Solrzapo Aurusa, F J; Yarritu Viilanueva, C; Ruiz Adrados, E; Obelar Bernal, L; Acebo Garca, M; Alvarez Rabanal, R; Viguri Daz, A

    1997-01-01

    A patient with a history of epigastric abdominal pain and occasional vomiting is presented. During the study of an upper gastrointestinal hemorrhage, gastroduodenal invagination secondary to a gastric lipoma of 5.5 cm in diameter was diagnosed. Upper digestive endoscopy and gastroduodenal study were not diagnostic. Echography detected a duodenal mass suspect of invagination. CAT diagnosed the lipomatous nature of the tumor. Surgery confirmed gastroduodenal invagination with a gastric lipoma with ulceration in the mucosa which covered the same. Enucleation of the tumor was performed. Histologic study established the diagnosis of gastric lipoma. The post operative period was uneventful. A review of the clinical, diagnostic and therapeutic aspects of this rare disease is reported. PMID:9296846

  5. 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

  6. TGFBR3 and MGEA5 rearrangements in pleomorphic hyalinizing angiectatic tumors and the spectrum of related neoplasms.

    PubMed

    Carter, Jodi M; Sukov, William R; Montgomery, Elizabeth; Goldblum, John R; Billings, Steven D; Fritchie, Karen J; Folpe, Andrew L

    2014-09-01

    Pleomorphic hyalinizing angiectatic tumor (PHAT) is a rare, locally aggressive tumor of the distal extremities with a proclivity for local recurrence. PHATs contain characteristic ectatic, thin-walled vessels, lined by fibrin, and are surrounded by groups of variably pleomorphic spindled to epithelioid neoplastic cells. The putative precursor lesion of PHAT, originally termed "early PHAT" shares many clinicopathologic features with hemosiderotic fibrolipomatous tumor (HFLT). HFLT, myxoinflammatory fibroblastic sarcoma (MIFS), and tumors showing hybrid features of HFLT and MIFS often show TGFBR3 and MGEA5 gene rearrangements. To date, only a small number of PHATs has been tested for either rearrangement; all have been negative. We hypothesized that PHATs contain TGFBR3 and/or MGEA5 rearrangements. Cases of PHAT (all containing areas of HFLT) (N=10), HFLT (N=7), MIFS (N=6), hybrid HFLT/MIFS (N=3), and PHAT-like undifferentiated pleomorphic sarcomas (N=7) were retrieved from our institutional and consultation archives and analyzed for TGFBR3 and MGEA5 rearrangements using a break-apart probe strategy for FISH. Six of 10 PHATs harbored TGFBR3 and/or MGEA5 gene rearrangements: 4 cases had both TGFBR3 and MGEA5 rearrangements, and 2 cases contained MGEA5 rearrangements. Two of 7 HFLTs were positive: 1 case had a TGFBR3 rearrangement, and 1 case had an MGEA5 rearrangement. One of 6 MIFSs had an MGEA5 rearrangement. All 3 hybrid HFLT/MIFS cases were positive: 2 cases had both TGFBR3 and MGEA5 rearrangements, and 1 case had a TGFBR3 rearrangement. All PHAT-like undifferentiated pleomorphic sarcomas were negative. We report, for the first time, the presence of TGFBR3 and/or MGEA5 rearrangements in tumors showing mixed features of HFLT and PHAT. The presence of such rearrangements strongly suggests that HFLT is related to both PHAT and MIFS and that the latter 2 tumors may represent morphologic variants of a single, genetically defined entity in which only MIFS has acquired the capacity to metastasize. PMID:24705316

  7. Non-neoplastic pancreatic lesions that may mimic malignancy.

    PubMed

    Okun, Sherry D; Lewin, David N

    2016-01-01

    The widespread use of abdominal ultrasound (US), computed tomography (CT), and magnetic resonance imaging (MRI) has resulted in an increased identification of asymptomatic pancreatic lesions. Preoperative diagnoses of pancreatic lesions can be difficult. Solid and cystic lesions and anatomic variants of normal can all mimic tumor clinically and radiologically. Newer imaging modalities have increased the likelihood of the accurate diagnosis of non-neoplastic pancreatic disease, however, despite the many advances; it still remains a challenge to differentiate rarer non-neoplastic entities and inflammatory masses from adenocarcinoma, preoperatively. Adding to the challenge is the fact that a variety of inflammatory, solid and cystic non-neoplastic lesions have significant clinical and radiological overlap with malignancies. About 5-10% of pancreatectomies performed with the primary clinical diagnosis of pancreatic carcinoma are later proved to be essentially non-neoplastic lesions. It is vital to include these non-neoplastic entities in the differential diagnosis while working up abnormal clinical and radiological pancreatic findings because it may drastically alter therapeutic options for the patients. The significance of recognizing these lesions preoperatively is to help to guide the clinical decision-making process and the avoidance of an unnecessary pancreatectomy. Examples of such entities include chronic pancreatitis, sarcoidosis, intrapancreatic accessory spleen (IPAS), lymphoid hyperplasia, lipomatous pseudohypertrophy (LPH), lymphangioma, lymphoepithelial cyst (LEC) and endometriosis. PMID:26602569

  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. 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

  10. Mammary myofibroblastoma: an update with emphasis on the most diagnostically challenging variants.

    PubMed

    Magro, Gaetano

    2016-01-01

    Myofibroblastoma (MFB) is a rare benign mesenchymal tumor which usually occurs in the breast parenchyma of both females and males. Although this tumor is typically composed of bland-looking spindle-shaped cells arranged in short fascicles interrupted by keloidal-like collagen fibers, several variations on this basic morphological theme do exist. With the advent of mammographic screening, an increased number of mammary MFBs are being detected and pathologists should be aware of the wide morphological and immunohistochemical spectrum exhibited by this unusual tumor. This review focuses on the most diagnostically challenging variants of mammary MFB, which could represent potential diagnostic pitfalls of malignancy, especially when evaluating needle core biopsies. In this regard the following variants of MFB, including the most recently recognized, will be presented: myxoid MFB, lipomatous MFB, epithelioid cell MFB, deciduoid cell MFB, epithelioid cell MFB with multinodular growth pattern, palisaded/schwannian-like MFB and MFB with extensive myxo-edematous stromal changes. Histological illustrations along with differential diagnostic problems for each single variant of MFB will be provided to offer helpful suggestions for a correct diagnostic approach in daily practice. PMID:26328916

  11. Glioblastoma with adipocyte-like tumor cell differentiation--histological and molecular features of a rare differentiation pattern.

    PubMed

    Rickert, Christian H; Riemenschneider, Markus J; Schachenmayr, Walter; Richter, Hans-Peter; Bockhorn, Jrgen; Reifenberger, Guido; Paulus, Werner

    2009-07-01

    We report on three adult patients with primary glioblastomas showing prominent adipocytic (lipomatous) differentiation, hence referred to as "glioblastomas with adipocyte-like tumor cell differentiation." Histologically, the tumors demonstrated typical features of glioblastoma but additionally contained areas consisting of glial fibrillary acidic protein (GFAP)-positive astrocytic tumor cells resembling adipocytes, that is, containing large intracellular lipid vacuoles. Comparative genomic hybridization (CGH) and focused molecular genetic analyses demonstrated gains of chromosomes 7, losses of chromosomes 9 and 10, as well as homozygous deletion of p14(ARF) in one of the tumors. The second tumor showed gains of chromosomes 3, 4, 8q and 12 as well as losses of chromosomes 10, 13, 15q, 19 and 22. In addition, this tumor carried homozygous deletions of CDKN2A and p14(ARF) as well as point mutations in the TP53 and PTEN genes. The third tumor also had a mutation in the PTEN gene. None of the tumors demonstrated EGFR, CDK4 or MDM2 amplification. Taken together, our results define a rare glioblastoma differentiation pattern and indicate that glioblastomas with adipocyte-like tumor cell differentiation share common molecular genetic features with other primary glioblastomas. PMID:18691268

  12. 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

  13. 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

  14. Dynamic (18)F-fluorodeoxyglucose positron emission tomography/CT in hibernoma: Enhanced tracer uptake mimicking liposarcoma.

    PubMed

    Sachpekidis, Christos; Roumia, Safwan; Schwarzbach, Matthias; Dimitrakopoulou-Strauss, Antonia

    2013-12-28

    We report on two cases of patients with fat-equivalent masses in computed tomography (CT), referred to our department for dynamic positron emission tomography/CT (dPET/CT) with (18)F-fluorodeoxyglucose ((18)F-FDG) in order to investigate their dignity. Both qualitative and quantitative information, as derived from dPET/CTs, couldn't exclude a high-grade liposarcoma: Visual evaluation, revealed a large hypermetabolic focus of intense (18)F-FDG uptake in each patient (average SUVs 8.3 and 11.3). Regression-based parametric imaging demonstrated an enhanced distribution volume, which correlates to perfusion, and a high phosphorylation rate that correlates to cell viability. Kinetic analysis, based on a two-tissue compartment model demonstrated an enhanced FDG transport k1 and an enhanced phosphorylation rate k3. A non-compartmental approach based on fractal dimension revealed also enhanced values. However, final diagnosis was based on biopsy, which revealed hibernoma, a benign brown fat tumor. Brown adipose contains increased numbers of mitochondria and a high-rate of glucose metabolism. Therefore, they have increased FDG uptake. The evaluation of lipomatous lesions on CT, with high FDG uptake, should include the possibility of hibernoma as a differential diagnosis. PMID:24379937

  15. 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

  16. 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

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

    PubMed

    Gerardo, Rita; Morgado, Carolina; Calvo, Dolores; Pinto, Eugnia; Bravio, Ivan; Castelo, Nelson; Martelo, Fernando

    2009-01-01

    Mediastinal germ cell tumours (M-GCT) are rare forms of neoplasms compared with other tumours of the same location. They are classified in seminomas, malignant non-seminomatous GCT and teratomas. The malignant transformation of the somatic component of the teratoma, with sarcomatous or carcinomatous degeneration, is even more uncommon. We report the clinical case of a 32 year old man who presented with severe chest pain on the right hemithorax. The image exams revealed the existence of a large heterogeneous lesion with a diameter of 7.7 cm, with areas of lipomatous density and a calcic image with the appearance of a tooth, in the right projection of the anterior mediastinum, in the vicinity of the large vessels, compatible with teratoma. The transthoracic biopsy (CT guided) showed morphologic aspects of sarcoma. The patient was operated on with the en bloc resection of the mediastinal mass, right lung, a segment of the pericardium and the thymus. The pathological studies showed a teratoma with malignant transformation of the mesenquimatous component, with muscular differentiation into leiomiosarcoma and rabdomiosarcoma. After surgery, the patient was treated with a scheme of doxorubicin and ifosfamide. The most prominent concepts related to this clinical entity, as well as its treatment, are debated in this article, based on the most recent publications dedicated to the subject. PMID:20140289

  18. Sudden onset of paraplegia caused by hemorrhagic spinal epidural angiolipoma. A case report.

    PubMed

    Akhaddar, Ali; Albouzidi, Abderrahmane; Elmostarchid, Brahim; Gazzaz, Miloudi; Boucetta, Mohamed

    2008-09-01

    Spinal epidural angiolipoma is a rare benign tumor containing vascular and mature adipose elements. A slow progressive clinical course was mostly presented and rarely a fluctuating course during pregnancy. The authors report the original case of spontaneous spinal epidural bleeding resulting from thoracic epidural angiolipoma who presented with hyperacute onset of paraplegia, simulating an extradural hematoma. The patient was admitted with sudden non-traumatic hyperacute paraplegia during a prolonged walk. Neurologic examination showed sensory loss below T6 and bladder disturbances. Spinal MRI revealed a non-enhanced heterogeneous thoracic epidural lesion, extending from T2 to T3. A bilateral T2-T4 laminectomy was performed to achieve resection of a lipomatous tumor containing area of spontaneous hemorrhage. The postoperative course was uneventful with complete neurologic recovery. Histologic examination revealed the tumor as an angiolipoma. Because the prognosis after rapid surgical management of this lesion is favorable, the diagnosis of spinal angiolipoma with bleeding should be considered in the differential diagnosis of hyperacute spinal cord compression. PMID:18228054

  19. Fluorescence in situ analysis of soft tissue tumor associated genetic alterations in formalin-fixed paraffin-embedded tissue.

    PubMed

    Horn, Heike; Allmanritter, Jan; Doglioni, Claudio; Marx, Alexander; Mller, Justus; Gattenlhner, Stefan; Staiger, Annette M; Rosenwald, Andreas; Ott, German; Ott, M Michaela

    2014-12-01

    No prospective studies are available to date evaluating the combined analysis of chromosomal alterations via interphase FISH in different soft tissue sarcoma (STS) subtypes. We tested 64 consecutive sarcoma specimens with FISH probes to detect aberrations specific for a given STS subtype. We first determined the translocation frequency in the specific STS subtypes in 48 tumors, with the primary pathological diagnosis as the gold standard. Subsequently, to evaluate sensitivity and specificity, all FISH probes were hybridized to 16 STS of hitherto unknown diagnosis. DDIT3 translocations occurred in 8/10 (80%) of myxoid liposarcomas. FOXO1 translocations were noted in 4/4 (100%) of alveolar but in none of 7 embryonal rhabdomyosarcomas. All 15 (100%) Ewing sarcomas/PNET and 4 clear cell sarcomas (4/4) harbored EWSR1 translocations. SS18 rearrangements were demonstrated in 8/9 (89%) synovial sarcomas. MDM2 amplification was noted in 7/8 (88%) atypical lipomatous tumors/well-differentiated and 3/3 (100%) dedifferentiated liposarcomas, respectively, but not in four pleomorphic liposarcomas. Sensitivities and specificities ranged from 80% to 100% and from 93% to 100%, respectively, with the highest values observed for FOXO1 (100% each). We conclude, therefore, that is possible to accurately predict the STS subtype using a panel of different subtype-specific FISH probes, thereby greatly facilitating the differential diagnosis of these tumors. PMID:25446247

  20. 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

  1. 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

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

    PubMed

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

    2015-02-01

    Somatic activating mutations in the phosphatidylinositol-3-kinase/AKT/mTOR pathway underlie heterogeneous segmental overgrowth phenotypes. Because of the extreme differences among patients, we sought to characterize the phenotypic spectrum associated with different genotypes and mutation burdens, including a better understanding of associated complications and natural history. Historically, the clinical diagnoses in patients with PIK3CA activating mutations have included Fibroadipose hyperplasia or Overgrowth (FAO), Hemihyperplasia Multiple Lipomatosis (HHML), Congenital Lipomatous Overgrowth, Vascular Malformations, Epidermal Nevi, Scoliosis/Skeletal and Spinal (CLOVES) syndrome, macrodactyly, Fibroadipose Infiltrating Lipomatosis, and the related megalencephaly syndromes, Megalencephaly-Capillary Malformation (MCAP or M-CM) and Dysplastic Megalencephaly (DMEG). A workshop was convened at the National Institutes of Health (NIH) to discuss and develop a consensus document regarding diagnosis and treatment of patients with PIK3CA-associated somatic overgrowth disorders. Participants in the workshop included a group of researchers from several institutions who have been studying these disorders and have published their findings, as well as representatives from patient-advocacy and support groups. The umbrella term of "PIK3CA-Related Overgrowth Spectrum (PROS)" was agreed upon to encompass both the known and emerging clinical entities associated with somatic PIK3CA mutations including, macrodactyly, FAO, HHML, CLOVES, and related megalencephaly conditions. Key clinical diagnostic features and criteria for testing were proposed, and testing approaches summarized. Preliminary recommendations for a uniform approach to assessment of overgrowth and molecular diagnostic testing were determined. Future areas to address include the surgical management of overgrowth tissue and vascular anomalies, the optimal approach to thrombosis risk, and the testing of potential pharmacologic therapies. PMID:25557259

  3. Clinical delineation and natural history of the PIK3CA-related overgrowth spectrum.

    PubMed

    Keppler-Noreuil, Kim M; Sapp, Julie C; Lindhurst, Marjorie J; Parker, Victoria E R; 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 D M; 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

    2014-07-01

    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. PMID:24782230

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

    PubMed Central

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

    2015-01-01

    Somatic activating mutations in the phosphatidylinositol-3-kinase/AKT/mTOR pathway underlie heterogeneous segmental overgrowth phenotypes. Because of the extreme differences among patients, we sought to characterize the phenotypic spectrum associated with different genotypes and mutation burdens, including a better understanding of associated complications and natural history. Historically, the clinical diagnoses in patients with PIK3CA activating mutations have included Fibroadipose hyperplasia or Overgrowth (FAO), Hemihyperplasia Multiple Lipomatosis (HHML), Congenital Lipomatous Overgrowth, Vascular Malformations, Epidermal Nevi, Scoliosis/Skeletal and Spinal (CLOVES) syndrome, macrodactyly, Fibroadipose Infiltrating Lipomatosis, and the related megalencephaly syndromes, Megalencephaly-Capillary Malformation (MCAP or M-CM) and Dysplastic Megalencephaly (DMEG). A workshop was convened at the National Institutes of Health (NIH) to discuss and develop a consensus document regarding diagnosis and treatment of patients with PIK3CA-associated somatic overgrowth disorders. Participants in the workshop included a group of researchers from several institutions who have been studying these disorders and have published their findings, as well as representatives from patient-advocacy and support groups. The umbrella term of PIK3CA-Related Overgrowth Spectrum (PROS) was agreed upon to encompass both the known and emerging clinical entities associated with somatic PIK3CA mutations including, macrodactyly, FAO, HHML, CLOVES, and related megalencephaly conditions. Key clinical diagnostic features and criteria for testing were proposed, and testing approaches summarized. Preliminary recommendations for a uniform approach to assessment of overgrowth and molecular diagnostic testing were determined. Future areas to address include the surgical management of overgrowth tissue and vascular anomalies, the optimal approach to thrombosis risk, and the testing of potential pharmacologic therapies. PMID:25557259

  5. The histopathology of PRSS1 hereditary pancreatitis.

    PubMed

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

    2014-03-01

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

  6. 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

  7. 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

  8. 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

  9. 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

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

    PubMed

    Jaeger, Filipe; Capistrano, Hermnia Marques; de Castro, Wagner Henriques; Caldeira, Patrcia Carlos; Vieira do Carmo, Maria Auxiliadora; de Mesquita, Ricardo Alves; Ferreira de Aguiar, Maria Cssia

    2015-01-01

    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 intraoral examination showed a 2520 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. 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

  12. 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.

  13. 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.