Whole-exome sequencing identifies a recurrent NAB2-STAT6 fusion in solitary fibrous tumors

Nat Genet. 2013 Feb;45(2):131-2. doi: 10.1038/ng.2522. Epub 2013 Jan 13.

Abstract

Solitary fibrous tumors (SFTs) are rare mesenchymal tumors. Here, we describe the identification of a NAB2-STAT6 fusion from whole-exome sequencing of 17 SFTs. Analysis in 53 tumors confirmed the presence of 7 variants of this fusion transcript in 29 tumors (55%), representing a lower bound for fusion frequency at this locus and suggesting that the NAB2-STAT6 fusion is a distinct molecular feature of SFTs.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Base Sequence
  • Exome / genetics*
  • Gene Components
  • Gene Fusion / genetics*
  • Genetic Variation*
  • Humans
  • Molecular Sequence Data
  • Neoplasm Proteins / genetics*
  • Repressor Proteins / genetics*
  • STAT6 Transcription Factor / genetics*
  • Sequence Analysis, DNA
  • Solitary Fibrous Tumors / genetics*

Substances

  • Nab2 protein, mouse
  • Neoplasm Proteins
  • Repressor Proteins
  • STAT6 Transcription Factor
  • STAT6 protein, human