The diagnostic utility of cytology specimen in a case of EWSR1::NFATC2 sarcoma.

ABSTRACT

EWSR1NFATC2 sarcoma, a rare round cell sarcoma constituting the majority of EWSR1non-ETS sarcomas, has recently been defined in the latest WHO classification. To date, the cytological findings of EWSR1NFATC2 sarcoma remain undocumented. We present the case of a 25-year-old man with a history of polyostotic fibrous dysplasia in the right leg, referred to our hospital with left thigh pain. Cytological findings included metachromasia, minimally pleomorphic round cells, and eosinophilic infiltration. There was no precursor fibrous dysplasia and the initial diagnosis was undifferentiated pleomorphic sarcoma. Following histologic review, we successfully performed immunocytochemistry and fluorescence in situ hybridization (FISH) on archival cytology specimens. The tumor cells were positive for NKX2-2, NKX3-1, and PAX7 and showed amplified 5' single signals of EWSR1 gene. Reverse transcriptase-polymerase chain reaction revealed an in-frame fusion of EWSR1 and NFATC2. This report describes the cytological features of EWSR1NFATC2 sarcoma and highlights the diagnostic utility of archival cytology specimens.