Malignant round cell tumor of bone with EWSR1-NFATC2 gene fusion

2014-08-01 00:01:58

Virchows Archiv; August 2014, Volume 465, Issue 2, pp 233-239

Navid Sadri, Julieta Barroeta, Svetlana D. Pack, Zied Abdullaev, Bishwanath Chatterjee, Raghunath Puthiyaveettil, John S. Brooks, Frederic G. Barr, Paul J. Zhang


Gene rearrangements involving the Ewing sarcoma breakpoint region 1 (EWSR1) gene are seen in a broad range of sarcomas and some nonmesenchymal neoplasms. Ewing sarcoma is molecularly defined by a fusion of the EWSR1 gene (or rarely the related FUS gene) to a member of the E26 transformation-specific (ETS) family of transcription factors, frequently the EWSR1-FLI1 fusion. More recently, EWSR1 gene fusion to non-ETS family members, including the nuclear factor of activated T cells, cytoplasmic, calcineurin-dependent 2 (NFATC2) gene, has been reported in a histological variant of Ewing sarcoma. Here, we report a malignant round cell tumor of bone with an EWSR1-NFATC2 fusion gene. This report builds upon the unusual morphological and clinical presentation of bone neoplasms containing an EWSR1-NFATC2 fusion gene.

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