title: A benign vascular tumor with a new fusion gene: EWSR1-NFATC1 in hemangioma of the bone.
abstract: The EWSR1 gene in chromosome band 22q12 is a promiscuous fusion partner involved in a vast array of tumors characterized by gene fusions. In this study, we report the finding of a new fusion gene, EWSR1-NFATC1, in a hemangioma of the bone; genetic rearrangements have not previously been described in this tumor type. Chromosome banding analysis showed a t(18;22)(q23;q12) translocation as the sole change. Fluorescence in situ hybridization mapping suggested the involvement of each of the 2 partner genes, and reverse transcriptase polymerase chain reaction revealed an in-frame EWSR1-NFATC1 transcript. NFATC1 has not previously been shown to be involved in a fusion chimera. However, NFATC2, encoding another member of the same protein family, is known to be a fusion partner for EWSR1 in a subgroup of Ewing sarcoma. Thus, our findings further broaden the spectrum of neoplasms associated with EWSR1 fusion genes, add a new partner to the growing list of EWSR1 chimeras, and suggest that chromosomal rearrangements of pathogenetic, and possibly also diagnostic, significance can be present in benign vascular bone tumors.
authors.affiliation: Department of Clinical Genetics, University Hospital, Lund, Sweden. arbajian@med.lu.se
authors.forename: Elsa
authors.initials: E
authors.lastname: Arbajian
authors.forename: Linda
authors.initials: L
authors.lastname: Magnusson
authors.forename: Otte
authors.initials: O
authors.lastname: Brosjö
authors.forename: Johan
authors.initials: J
authors.lastname: Wejde
authors.forename: Andrew L
authors.initials: AL
authors.lastname: Folpe
authors.forename: Karolin H
authors.initials: KH
authors.lastname: Nord
authors.forename: Fredrik
authors.initials: F
authors.lastname: Mertens
mesh_terms: D000328:Adult; D001859:Bone Neoplasms / Q000235:genetics* / Q000473:pathology / Q000601:surgery; D002148:Calmodulin-Binding Proteins / Q000235:genetics*; D002871:Chromosome Banding; D002892:Chromosomes, Human, Pair 22; D018572:Disease-Free Survival; D006391:Hemangioma / Q000235:genetics* / Q000473:pathology / Q000601:surgery; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D050778:NFATC Transcription Factors / Q000235:genetics*; D009777:Occipital Bone / Q000473:pathology; D015514:Oncogene Proteins, Fusion; D034802:RNA-Binding Protein EWS; D016601:RNA-Binding Proteins / Q000235:genetics*; D020133:Reverse Transcriptase Polymerase Chain Reaction
chemical_list: D002148:Calmodulin-Binding Proteins; C500986:EWSR1 protein, human; D050778:NFATC Transcription Factors; C494003:NFATC1 protein, human; D015514:Oncogene Proteins, Fusion; D034802:RNA-Binding Protein EWS; D016601:RNA-Binding Proteins