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

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Abstract

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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Authors and Affiliations

  1. Department of Pathology and Laboratory Medicine, Hospital of the University of Pennsylvania, Philadelphia, PA, 19104, USA

    Navid Sadri, Raghunath Puthiyaveettil & Paul J. Zhang

  2. Department of Pathology and Laboratory Medicine, Pennsylvania Hospital, Philadelphia, PA, 19107, USA

    Julieta Barroeta & John S. Brooks

  3. Laboratory of Pathology, National Cancer Institute, Bethesda, MD, 20892, USA

    Svetlana D. Pack, Zied Abdullaev, Bishwanath Chatterjee & Frederic G. Barr

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  1. Navid Sadri
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  2. Julieta Barroeta
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Correspondence to Navid Sadri or Frederic G. Barr.

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Sadri, N., Barroeta, J., Pack, S.D. et al. Malignant round cell tumor of bone with EWSR1-NFATC2 gene fusion. Virchows Arch 465, 233–239 (2014). https://doi.org/10.1007/s00428-014-1613-7

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