A Benign Vascular Tumor With a New Fusion Gene: EWSR1-NFATC1 in Hemangioma of the Bone.

Elsa Arbajian, Linda Magnusson, Otte Brosjö, Johan Wejde, Andrew L Folpe, Karolin Hansén Nord, Fredrik Mertens

Research output: Contribution to journalArticlepeer-review

22 Citations (SciVal)

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.
Original languageEnglish
Pages (from-to)613-616
JournalAmerican Journal of Surgical Pathology
Volume37
Issue number4
DOIs
Publication statusPublished - 2013

Subject classification (UKÄ)

  • Surgery

Fingerprint

Dive into the research topics of 'A Benign Vascular Tumor With a New Fusion Gene: EWSR1-NFATC1 in Hemangioma of the Bone.'. Together they form a unique fingerprint.

Cite this