期刊
AMERICAN JOURNAL OF SURGICAL PATHOLOGY
卷 37, 期 4, 页码 613-616出版社
LIPPINCOTT WILLIAMS & WILKINS
DOI: 10.1097/PAS.0b013e31827ae13b
关键词
hemangioma of bone; gene fusion; EWSR1; NFATC1
资金
- Swedish Cancer Foundation
- National Research Council of Sweden
- IngaBritt and Arne Lundberg Foundation
- Medical Faculty of Lund University
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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