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Beware of Immunohistochemistry--report of a Cytokeratin-, Desmin- and INI-1-negative Pelvic Desmoplastic Small Round Cell Tumor in a 51 Year Old Woman

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Specialty Pathology
Date 2015 Mar 11
PMID 25755805
Citations 5
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Abstract

We present a 51 year old female patient with a pelvic desmoplastic small round cell tumor with an unusual immunohistochemical profile, including absence of significant cytokeratin expression, complete negativity for desmin and widespread loss of nuclear INI-1 expression (>90% of tumor cells). The neoplastic cells were positive for epithelial membrane antigen (EMA), vimentin, and WT-1 (antibody against the C-terminus). The tumor showed classic histopathological features with no rhabdoid cells. Fluorescent in situ hybridization revealed EWSR1 gene rearrangement and absent SYT gene rearrangement. Reverse transcriptase polymerase chain reaction showed presence of EWSR1-WT1 transcript.

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