Whole-exome sequencing identifies a recurrent NAB2-STAT6 fusion in solitary fibrous tumors
Menées sur des échantillons tumoraux prélevés sur des patients atteints d'une tumeur fibreuse solitaire, ces études identifient la présence fréquente d'une fusion des gènes NAB2 et STAT6
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.
Nature Genetics , résumé, 2012