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)

Erosive adenomatosis of the nipple (also called florid papillomatosis of the nipple ducts) is an uncommon disease since only 358 cases have been published. We observed 10 cases in 10 years, corresponding to 1 case in 8,500 skin biopsies. One of these cases concerned a male patient and is the 13th of this kind in the literature. In our series the mean duration of symptoms was 15 months, as against 25 months in the 121 published cases where duration was clearly specified. In 8 of our 10 cases the patients consulted for oozing erosion or discharge of the nipple. Physical examination showed a palpable nodule in 2 cases, a small pediculate tumour in 1 case and nipple enlargement in 50 p. 100 of the cases. The patients were followed up for as much as 7 years. The outcome was always favourable. Recurrence was observed in only one patient, 7 months after limited excision; 6 years after a second excision no relapse was noted. Histological examination showed a papillomatous lesion in 5 cases, an adenomatous lesion in 2 cases and a mixed lesion in 3 cases. Myoepithelial cells were found in all cases, but they were doubtful or discreet in 4 cases. The apical pole of columnar cells was labelled by the ACE antibody, but labelling was very weak and partial in 4 cases. The columnar cell cytoplasm was constantly and strongly labelled by the KL1 anti-keratin antibody. The apical pole of parietal cells was strongly labelled by the antiepithelial membrane antigen antibody (EMA) in all cases.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[Erosive adenomatosis of the nipple. Report of 10 cases with immunohistochemistry]. 217 64

Myoepithelial tumors in skin and soft tissue are uncommon but have been increasingly characterized over the past decade. Men and women are equally affected across all age groups and lesions arise most frequently on the extremities and limb girdles. Approximately 20 % of cases occur in pediatric patients, in whom they are frequently malignant. Similar to their salivary gland counterparts, myoepithelial tumors of soft tissue demonstrate heterogeneous morphologic and immunophenotypic features. Tumors are classified as mixed tumor/chondroid syringoma, myoepithelioma, and myoepithelial carcinoma; in soft tissue, tumors having at least moderate cytologic atypia are classified as malignant. Mixed tumor and myoepithelioma show a benign clinical course, with recurrence in up to 20 % (typically secondary to incomplete excision), and do not metastasize. In contrast, myoepithelial carcinoma shows more aggressive behavior with recurrence and metastasis in up to 40-50 % of cases. The majority of myoepithelial neoplasms typically coexpress epithelial antigens (cytokeratin and/or EMA) and S-100 protein; GFAP and p63 are frequently positive and a subset of malignant neoplasms lose INI1 expression. Up to 45 % of myoepitheliomas and myoepithelial carcinomas harbor EWSR1 gene rearrangements, unlike mixed tumor/chondroid syringoma which is characterized by PLAG1 gene rearrangement. While mixed tumor/chondroid syringoma are likely related to primary salivary myoepithelial tumors, soft tissue myoepithelioma and myoepithelial carcinoma appear to be pathologically distinct neoplasms.
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PMID:Myoepithelial neoplasms of soft tissue: an updated review of the clinicopathologic, immunophenotypic, and genetic features. 2580 78

Myoepithelial neoplasms were originally described in the salivary glands but their spectrum has been expanding with reports in other locations, including soft tissue. Intracranial cases are exceptionally rare outside the sellar region where they are assumed to be arising from Rathke pouch rests. Two cases of pediatric intracranial myoepithelial neoplasm in the interhemispheric fissure and the right cerebral hemisphere are reported here. Imaging studies suggest that the second case was associated with cerebrospinal fluid dissemination. Both cases showed typical variation in morphology and immunophenotype between more epithelioid and more mesenchymal features. The differential diagnosis at this particular anatomic location includes meningioma, which can show some overlap in immunophenotype since both tumors express EMA as well as GLUT1. One case was positive for EWSR1 rearrangement by fluorescence in situ hybridization. One patient is disease free at last follow-up while the other succumbed to the disease within days illustrating the clinical spectrum of these tumors.
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PMID:Primary Intracranial Myoepithelial Neoplasm: A Potential Mimic of Meningioma. 2651 Aug 61

Myoepithelial tumors (METs) of bone (BMETs) are a rare but distinct tumor entity. METs that are cytologically benign are termed myoepitheliomas; METs with malignant histologic features are called myoepithelial carcinomas. BMETs have a wide age range, may involve any part of the skeleton, and have a variable spindle cell and epithelioid morphology. Bone tumors to be considered in the differential diagnosis are discussed. Additional techniques are indispensable to correctly diagnose BMETs. By immunohistochemistry, BMETs often express cytokeratins and/or EMA together with S100, GFAP, or calponin. Half of BMETs harbor EWSR1 (or rare FUS) gene rearrangements with different gene partners.
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PMID:Myoepithelial Tumors of Bone. 2879 7

Myoepithelial tumors (MET) represent a clinicopathologically heterogeneous group of tumors, ranging from benign to highly aggressive lesions. Although MET arising in soft tissue, bone, or viscera share morphologic and immunophenotypic overlap with their salivary gland and cutaneous counterparts, there is still controversy regarding their genetic relationship. Half of MET of soft tissue and bone harbor EWSR1 or FUS related fusions, while MET arising in the salivary gland and skin often show PLAG1 and HMGA2 gene rearrangements. Regardless of the site of origin, the gold standard in diagnosing a MET relies on demonstrating its "myoepithelial immunophenotype" of positivity for EMA/CK and S100 protein or GFAP. However, the morphologic spectrum of MET in soft tissue and bone is quite broad and the above immunoprofile is nonspecific, being shared by other pathogenetically unrelated neoplasms. Moreover, rare MET lack a diagnostic immunoprofile but shows instead the characteristic gene fusions. In this study, we analyzed a large cohort of 66 MET with EWSR1 and FUS gene rearrangements spanning various clinical presentations, to better define their morphologic spectrum and establish relevant pathologic-molecular correlations. Genetic analysis was carried out by FISH for EWSR1/FUS rearrangements and potential partners, and/or by targeted RNA sequencing. Then, 82% showed EWSR1 rearrangement, while 18% had FUS abnormalities. EWSR1-POU5F1 occurred with predilection in malignant MET in children and young adults and these tumors had nested epithelioid morphology and clear cytoplasm. In contrast, EWSR1/FUS-PBX1/3 fusions were associated with benign and sclerotic spindle cell morphology. Tumors with EWSR1-KLF17 showed chordoma-like morphology. Our results demonstrate striking morphologic-molecular correlations in MET of bone, soft tissue and viscera, which might have implications in their clinical behavior.
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PMID:A morphologic and molecular reappraisal of myoepithelial tumors of soft tissue, bone, and viscera with EWSR1 and FUS gene rearrangements. 3199 43