Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0268596 (EMA)
 2,520 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Angiomatoid fibrous histiocytoma, a fibrohistiocytic tumour of intermediate malignancy that usually presents on extremities of young patients, has a broader clinical/histological spectrum than is widely appreciated. We summarise our experience with an emphasis on unusual features. Twenty-seven cases were analysed for clinical and histological features, including immunohistochemistry and FISH for rearrangements of EWSR1 or FUS. Five (19%) occurred in patients >40 years old, and ten (37%) occurred outside the extremities. Three that occurred in patients >40 years old arose in atypical locations. Evaluation for classical histological features (lymphocytic cuff, fibrous pseudocapsule, pseudovascular spaces, haemorrhage, haemosiderin, and histiocytoid morphology) showed that all had two or more classical features. Unusual features were noted in many cases. Ten (37%) displayed significant areas of sclerosis; three of these ten had areas with a perineurioma-like pattern. Nine displayed at least moderate pleomorphism, with two exhibiting striking pleomorphism. Eight had eosinophils in the stroma, one with numerous eosinophils. One had a reticulated pattern of cells in a myxoid stroma. Mitotic rates were low [average 0.67/10 high power fields (HPFs)]. Three had atypical mitotic figures. Thirteen of 20 (65%) were CD68 positive, 11 of 17 (65%) were EMA positive, and 10 of 18 (56%) were desmin positive. Thirteen of 16 (81%) had a rearrangement of EWSR1; none had a FUS rearrangement.This series expands the spectrum of angiomatoid fibrous histiocytoma.
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PMID:Angiomatoid fibrous histiocytoma: an expansion of the clinical and histological spectrum. 2461 12

Angiomatoid fibrous histiocytoma (AFH) can be diagnostically difficult because of its varied histologic appearance and potential to occur at unusual sites. The identification of recurrent rearrangements (EWSR1-CREB1, EWSR1-ATF1, and FUS-ATF1) is a helpful diagnostic tool. Additional immunohistochemical markers in AFH could aid in restricting the differential diagnosis and selecting appropriate cases for targeted molecular studies. SOX9 is a transcription factor that is crucial for chondrogenesis and is expressed in neoplasms with chondroid differentiation, and other malignant bone and soft tissue tumors. Recently a role of EWS in regulation of SOX9 expression has been reported, the rearrangements typical of AFH may play a role in SOX9 expression. In this study, we analyzed SOX9 expression in 13 pediatric AFH with varying histology, and an additional 80 cases of other myofibroblastic or fibrohistiocytic lesions. SOX9 expression was present in 11 of 13 AFH, 2 of 53 dermatofibroma (1 aneurysmal and 1 cellular) and 1 calcifying aponeurotic fibroma. The remaining tumors were negative. SOX9 is selectively expressed in AFH and may be a useful maker in combination with desmin, CD99, CD68, and EMA in small biopsies, especially in cases with unusual morphologic features. SOX9 appears to be highly specific for AFH, being weakly expressed in a subset of aneurysmal dermatofibroma and absent in other myofibroblastic lesions, except calcifying aponeurotic fibroma. It should be used with caution when differentiating AFH from malignant neoplasms such as Ewing sarcoma.
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PMID:SOX9 Immunohistochemistry in the Distinction of Angiomatoid Fibrous Histiocytoma From Histologic Mimics: Diagnostic Utility and Pitfalls. 3156 75