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EWSR1-NFATC1

Friday 15 March 2013

NFATC1-EWSR1

Pathology

- EWSR1-NFATC1 fusion gene in a hemangioma of the bone.with t(18;22)(q23;q12)

  • The EWSR1 gene in chromosome band 22q12 is a promiscuous fusion partner involved in a vast array of tumors characterized by gene fusions.
  • EWSR1-NFATC1 fusion gene has been found in a hemangioma of the bone.
  • 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.
  • These findings further broaden the spectrum of neoplasms associated with EWSR1 fusion genes, add a new partner to the growing list of EWSR1 chimeras.
  • It suggest that chromosomal rearrangements of pathogenetic, and possibly also diagnostic, significance can be present in benign vascular bone tumors.

Reference

- A Benign Vascular Tumor With a New Fusion Gene: EWSR1-NFATC1 in Hemangioma of the Bone. Arbajian E, Magnusson L, Brosj√∂ O, Wejde J, Folpe AL, Nord KH, Mertens F. Am J Surg Pathol. 2013 Apr;37(4):613-6. doi : 10.1097/PAS.0b013e31827ae13b PMID: 23480895