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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

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Free PMC article

Whole-exome Sequencing Identifies a Recurrent NAB2-STAT6 Fusion in Solitary Fibrous Tumors

Juliann Chmielecki et al. Nat Genet. .
Free PMC article

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.

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.

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