期刊
DIAGNOSTIC CYTOPATHOLOGY
卷 45, 期 7, 页码 662-667出版社
WILEY
DOI: 10.1002/dc.23712
关键词
synovial sarcoma; rhabdoid cells; SS18 rearrangement; FNAC; fluorescent in situ hybridization
Synovial sarcoma is a high-grade, soft tissue sarcoma that is relatively chemosensitive. Its exact diagnosis is crucial, including differentiation from its closest diagnostic mimic, ie, Ewing sarcoma, in view of different treatment options, including chemotherapy regimens, for both these tumors. A 15-year-old girl presented with a recurrent soft tissue mass in her right popliteal region, which was diagnosed as Ewing sarcoma, based on positive immunoexpression of MIC2/CD99, Fli1 and negative expression of LCA and desmin. During her metastatic work-up, a popliteal lymph node was identified, which was aspirated and examined. Fine needle aspiration cytology smears showed singly scattered and loose, cohesive clusters of cells containing round to polygonal, to short spindle-shaped nuclei with prominent nuclei, and moderate to abundant cytoplasm, including several rhabdoid cells. These features prompted a review of the biopsy of the recurrent tumor, and additional immunohistochemical stains, which revealed positive co-expression of pan cytokeratin (AE1/AE3), epithelial membrane antigen (EMA), along with a characteristic variable staining pattern of INI11/SMARCB1. Subsequently, by fluorescent in situ hybridization (FISH) technique, performed on the paraffin section of the recurrent tumor, 100% tumor nuclei displayed SS18 rearrangement, while none of the tumor cells displayed EWSR1 rearrangement. Diagnosis of poorly differentiated SS with rhabdoid features was confirmed. This constitutes as the first case, describing cytopathologic features of a poorly differentiated SS with rhabdoid features, initially misdiagnosed as a Ewing sarcoma, on biopsy and confirmed as SS by FISH technique. The diagnostic and treatment implications in this case are discussed herewith. Diagn. Cytopathol. 2017;45:662-667. (c) 2017 Wiley Periodicals, Inc.
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