eISSN: 2084-9869
ISSN: 1233-9687
Polish Journal of Pathology
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SCImago Journal & Country Rank
3/2017
 
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abstract:
Case report

EWSR1-fusion-negative, SMARCB1-deficient primary pulmonary myxoid sarcoma

Abbas Agaimy, Thomas Duell, Alicia T. Morresi-Hauf

Pol J Pathol 2017; 68 (3): 261-267
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Primary pulmonary myxoid sarcoma (PPMS) is a recently defined rare neoplasm with histological and molecular similarity to extraskeletal myxoid chondrosarcoma. To date, 20 cases have been reported. A 48-year-old man presented with a huge mass filling the right hemithorax and extending into the tracheobronchial system. Histological findings were consistent with PPMS. Immunohistochemistry was positive for vimentin, CD10, and EMA, but other lineage-specific markers were negative. SMARCB1 (INI1) expression was lost in the tumour cells. FISH analysis (EWSR1, FUS, NR4A3, and SMARCB1) revealed no abnormalities. This case suggests SMARCB1 loss as a possible alternative molecular event driving EWSR1-negative PPMS.
keywords:

primary pulmonary myxoid sarcoma, EWSR1, myoepithelial carcinoma, SMARCB1, endobronchial tumour

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