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

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

doi:10.5114/pjp.2017.71535

eISSN: 2084-9869
ISSN: 1233-9687

Polish Journal of Pathology

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3/2017
vol. 68

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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

DOI: https://doi.org/10.5114/pjp.2017.71535

Online publish date: 2017/11/30

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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:

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

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

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

Abbas Agaimy

,

Thomas Duell

,

Alicia T. Morresi-Hauf