Key result
A novel EWSR1-NFATC1 fusion gene was identified in a hemangioma of the bone, suggesting that chromosomal rearrangements can be present in benign vascular bone tumors.
Case Report
Identifies a novel EWSR1-NFATC1 fusion gene in a benign vascular bone tumor, expanding the known spectrum of EWSR1 chimeras.
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Does not alter diagnosis or management of bone hemangiomas; leaves open whether EWSR1 fusions occur more widely in benign vascular tumors.
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.
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Arbajian et al. (2013) conducted a case report in Hemangioma of the bone. A novel EWSR1-NFATC1 fusion gene was identified in a hemangioma of the bone, suggesting that chromosomal rearrangements can be present in benign vascular bone tumors.
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