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

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

Juliann Chmielecki  1 , Aimee M Crago, Mara Rosenberg, Rachael O'Connor, Sarah R Walker, Lauren Ambrogio, Daniel Auclair, Aaron McKenna, Michael C Heinrich, David A Frank, Matthew Meyerson
Affiliations

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

Juliann Chmielecki et al. Nat Genet. 2013 Feb.

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.

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Conflict of interest statement

Conflicts of interest: MM is a paid consultant for and equity holder in Foundation Medicine, a genomics-based oncology diagnostics company, and is a paid consultant for Novartis. MCH is a paid consultant for and equity holder in Molecular MD, a molecular diagnostics company, and is a paid consultant for Novartis.

Figures

Figure 1
Figure 1. Structure of NAB2-STAT6
(a) An inversion within chromosome 12 results in the juxtaposition of the NAB2 and STAT6 genes. (b) Schematic diagram of five representative fusion variants showing a conserved breakpoint within STAT6 and variable lengths of NAB2. White regions represent NAB2, red regions correspond to the 5′ untranslated region of STAT6, and blue regions show STAT6.
See this image and copyright information in PMC

Comment in

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