title: Malignant round cell tumor of bone with EWSR1-NFATC2 gene fusion.
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.
authors.affiliation: Department of Pathology and Laboratory Medicine, Hospital of the University of Pennsylvania, Philadelphia, PA, 19104, USA, sadrin@mskcc.org.
authors.forename: Navid
authors.initials: N
authors.lastname: Sadri
authors.forename: Julieta
authors.initials: J
authors.lastname: Barroeta
authors.forename: Svetlana D
authors.initials: SD
authors.lastname: Pack
authors.forename: Zied
authors.initials: Z
authors.lastname: Abdullaev
authors.forename: Bishwanath
authors.initials: B
authors.lastname: Chatterjee
authors.forename: Raghunath
authors.initials: R
authors.lastname: Puthiyaveettil
authors.forename: John S
authors.initials: JS
authors.lastname: Brooks
authors.forename: Frederic G
authors.initials: FG
authors.lastname: Barr
authors.forename: Paul J
authors.initials: PJ
authors.lastname: Zhang
mesh_terms: D000328:Adult; D001859:Bone Neoplasms / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D016025:Bone Transplantation; D002148:Calmodulin-Binding Proteins / Q000235:genetics*; D003131:Combined Modality Therapy; D003475:Curettage; D004358:Drug Therapy; D050939:Gene Fusion / Q000235:genetics*; D015321:Gene Rearrangement / Q000235:genetics; D006801:Humans; D008297:Male; D050778:NFATC Transcription Factors / Q000235:genetics*; D034802:RNA-Binding Protein EWS; D016601:RNA-Binding Proteins / Q000235:genetics*; D012512:Sarcoma, Ewing / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D016896:Treatment Outcome
chemical_list: D002148:Calmodulin-Binding Proteins; C500986:EWSR1 protein, human; D050778:NFATC Transcription Factors; C494006:NFATC2 protein, human; D034802:RNA-Binding Protein EWS; D016601:RNA-Binding Proteins