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

Virchows Arch. 2014 Aug;465(2):233-9. doi: 10.1007/s00428-014-1613-7. Epub 2014 Jul 4.

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.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Bone Neoplasms / diagnosis
  • Bone Neoplasms / genetics*
  • Bone Neoplasms / therapy
  • Bone Transplantation
  • Calmodulin-Binding Proteins / genetics*
  • Combined Modality Therapy
  • Curettage
  • Drug Therapy
  • Gene Fusion / genetics*
  • Gene Rearrangement / genetics
  • Humans
  • Male
  • NFATC Transcription Factors / genetics*
  • RNA-Binding Protein EWS
  • RNA-Binding Proteins / genetics*
  • Sarcoma, Ewing / diagnosis
  • Sarcoma, Ewing / genetics*
  • Sarcoma, Ewing / therapy
  • Treatment Outcome

Substances

  • Calmodulin-Binding Proteins
  • EWSR1 protein, human
  • NFATC Transcription Factors
  • NFATC2 protein, human
  • RNA-Binding Protein EWS
  • RNA-Binding Proteins