孤立性纤维性肿瘤
生物
血管外皮细胞瘤
外显子组
外显子组测序
病理
癌症研究
遗传学
基因
川地34
突变
医学
干细胞
作者
Juliann Chmielecki,Aimeé M. Crago,Mara Rosenberg,Rachael O’Connor,Sarah R. Walker,Lauren Ambrogio,Daniel Auclair,Aaron McKenna,Michael C. Heinrich,David A. Frank,Matthew Meyerson
出处
期刊:Nature Genetics
[Nature Portfolio]
日期:2013-01-13
卷期号:45 (2): 131-132
被引量:592
摘要
Matthew Meyerson and colleagues report exome sequencing of solitary fibrous tumor (SFT), a rare mesenchymal tumor. They identify a NAB2-STAT6 fusion in 55% of cases. 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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