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)

A 13 year old boy presented with a huge mass on his right arm of 6 months duration. Histopathological examination revealed sheets of malignant small round blue cells with immunopositivity for LCA, CD43, CD45Ro, CD30, EMA, ALK-1 and CD99, and negativity for CD20, TdT, myogenin, myoD1, NSE, bcl-6, bcl-2 and CD10. Fluorescent In-Situ Hybridization (FISH) testing excluded the diagnosis of Ewing's sarcoma/PNET. Pathologists need to be aware of the diagnosis of a small cell variant of ALCL, as well as of the fact that CD99 expression commonly occurs in cases of ALK-positive ALCL, in order to distinguish this entity from Ewing's sarcoma/PNET.
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PMID:Small cell variant of anaplastic large cell lymphoma with positive immunoreactivity for CD99. 1894 5

Sclerosing epithelioid fibrosarcoma (SEF) has distinctive morphology and occurs mainly in deep soft tissue of adult extremities. Approximately 59 cases of SEF have been reported, with only 12 previously described in head and neck locations. Lesions involving the oral and maxillofacial region (OMFR) and intraosseous examples are rare. We present five cases of OMFRSEF. The OMF Pathology Department Registry was searched for cases coded from 1990 to the present as "SEF," "fibrosarcoma not otherwise specified" or "neoplasm of uncertain histiogenesis." Inclusion required OMFR location, an abundantly sclerotic sarcoma with epithelioid features, and lack of other phenotype by immunohistochemistry. Five cases of SEF included 3 males and 2 females. The age of the patients were: 19, 22, 35, 47 and 47 years. Tumor location included the infra-temporal fossa, buccal mucosa (recurrence extending into bone), anterior mandible (intraosseous primary, focally extending into soft tissue), and left parotid and submandibular gland (with metaplastic bone) regions. Tumor sizes ranged from 1.0 to 5.7 cm, median 3.5 cm. Histologically, the tumors were well delineated and multinodular, separated by fibrous septae. The spindled to primarily epithelioid tumor cells formed moderately cellular sheets and cords of irregularly contoured medium to large, round to oval, occasionally overlapping nuclei, indistinct nucleoli, wispy eosinophilic (retracting) cytoplasm, and distinctive cytoplasmic borders, embedded in osteoid-like stroma. Hemangiopericytoid (HPC-like) vessels were observed. Despite numerous apoptotic cells, mitoses were generally low; necrosis was present in two cases. Three tumors were graded as 2/3 and two 1/3. Immunohistochemically, the tumor cells were positive for vimentin, 1 case focally for CD34, whereas all cases were negative for S100 protein, keratins, EMA, desmin, and SMA. Wide or radical excision was performed with no adjuvant therapy. Follow-up revealed that 4 cases recurred at a range of 12-120 months. One case had no recurrent/residual disease at 3 months. Metastatic disease was present in 2 cases, to chest wall and lumbar/thoracic spine at 12 and 21 months, respectively. One patient died of disease complications at 15 months. OMFRSEF occur in adults in various locations, but with a common propensity to involve bone; there is recurrent potential and morbidity with higher grade lesions. The differential diagnosis for these tumors in this site includes sclerosing carcinoma, Ewing/PNET, osteosarcoma, osteoblastoma, and benign and malignant myoepithelial salivary gland tumors. The collagen, focal spindle cell features, HPC-like vasculature, and weak focal CD34 reactivity in one case might have raised a possible relationship between OMFRSEF and low grade malignant solitary fibrous tumor, but the intraosseous propensity, epithelioid features and relative lack of CD34 make this a distinctive entity.
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PMID:Oral and maxillofacial sclerosing epithelioid fibrosarcoma: report of five cases. 2061 75

The case of soft tissue malignant myoepithelioma is presented including clinicopathological, immunohistochemical and cytogenetic findings. A 36-year-old Saudi male patient suffered from large mass involving right scapula and right shoulder joint measuring 14x13x11 mm. Core biopsy revealed sheets and lobules of poorly differentiated small malignant cells with marked atypia and frequent mitosis. Initially, immunohistochemistry was reactive for vimentin, pan-cytokeratin, EMA and CD99. The case was negative for desmin, SMA, CD34, S-100 protein and GFAP. FISH analysis exhibited negativity for SS18 (18q11.2) gene rearrangement and positivity for EWSR1 (22q12) gene rearrangement and a diagnosis of Ewing/PNET was considered. Clinical behavior and therapeutic response did not match the diagnosis with re-evaluation. Wedge biopsy demonstrated aggregates of epithelioid cells besides calponin and P63 positivity. Final diagnosis of malignant myoepithelioma with EWSR1 gene rearrangement was issued; a new entity with aggressive course. Myoepithelial carcinoma of soft tissue exhibits a wide spectrum of cytomorphology with overlapping phenotype similar to other soft tissue sarcoma like synovial sarcoma, mesenchymal chondrosarcoma, epithelioid sarcoma as well as Ewing/PNET. Moreover, a new finding of EWSR1 gene rearrangement is recognized in malignant myoepithelioma with different fusion partners. Hence, myoepithelial carcinoma should be kept in mind in diagnosis of soft tissue tumors even with unusual phenotype and gene rearrangement.
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PMID:Soft tissue high grade myoepithelial carcinoma with round cell morphology: report of a newly described entity with EWSR1 gene rearrangement. 2117 14

Medulloepithelioma is an extremely rare PNET in late adolescence and adults with only two cases noted in literature. These are WHO grade IV tumors with dismal prognosis. Only few cases survived beyond 5 months. We report a rare case of supratentorial medulloepithelioma in a 17 year old girl. She had presented with right sided weakness, headache and vomiting. Imaging showed an enhancing mass lesion in left parietal region which undergone gross total resection. After surgery, her headache, vomiting and right sided weakness improved. On histopathology, the tumor had characteristic trabecular, ribbon and palisaded arrangement with brisk mitotic activity, necrosis and calcification. Immuno-histochemistry revealed positivity for Synaptophysin, Vimentin and EMA while GFAP was negative. MIB-1 labeling was very high. Patient received postoperative radiotherapy. On follow up after 14 months, she was clinically asymptomatic with no recurrence on imaging.
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PMID:Unusual occurrence of supratentorial medulloepithelioma in a young female. 2500 66

A malignant gastrointestinal neuroectodermal tumor (GNET), a distinctive entity covering the characteristics of clear cell sarcoma (CCS) of gastrointestinal tract described recently, arising primarily in the ileum of a 33-year-old woman is reported. Histologically, the neoplasm involved the full thickness of the intestinal wall. Tumor cells, mainly displayed epithelioid or polygonal appearance with oval or round nuclei, arranged in strand, nested, and solid pattern with prominent pseudopapillary architecture instead of the familiar histological image with multinucleated osteoclast-like giant cells. They were positive for vimentin, S-100, synaptophysin, CD56 and CD99 protein, but negative for AE1/AE3, EMA, CEA, LCA, Desmin, CK7, CK20, Villin, CgA, CD117, Dog-1, GFAP, Melan-A, HMB-45, CD34, CR, WT1, D2-40. Fluorescence in situ hybridization (FISH) showed the presence of chromosomal translocation involving EWSR. The patients lived through a calm period after a tumor resection and 4 cycles of chemotherapy combining ifosfamide and epirubicin. This case demonstrates that GNET is a rare tumor in gastrointestinal tract, and furthermore, various misleading histological characteristics should been taken into consideration in the diagnosis.
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PMID:Primary malignant neuroectodermal tumor of the ileum with predominantly uncommon pseudopapillary architecture. 2567 74