SF3B1 mutations in chronic lymphocytic leukemia

被引：105

作者：

Wan, Youzhong ^{[1
,2
]}

Wu, Catherine J. ^{[1
,2
,3
]}

机构：

[1] Dana Farber Canc Inst, Canc Vaccine Ctr, Boston, MA 02115 USA

[2] Dana Farber Canc Inst, Dept Med Oncol, Boston, MA 02115 USA

[3] Harvard Univ, Brigham & Womens Hosp, Sch Med, Dept Med, Boston, MA 02115 USA

来源：

BLOOD | 2013年 / 121卷 / 23期

基金：

美国国家卫生研究院;

关键词：

SPLICING FACTOR; MYELODYSPLASTIC SYNDROMES; CLINICAL-SIGNIFICANCE; RING SIDEROBLASTS; CLONAL EVOLUTION; MACHINERY; PATHWAY; ABERRATIONS; PROGRESSION; NOTCH1;

D O I：

10.1182/blood-2013-02-427641

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

SF3B1 is a critical component of the splicing machinery, which catalyzes the removal of introns from precursor messenger RNA (mRNA). Next-generation sequencing studies have identified mutations in SF3B1 in chronic lymphocytic leukemia (CLL) at high frequency. In CLL, SF3B1 mutation is associated with more aggressive disease and shorter survival, and recent studies suggest that it can be incorporated into prognostic schema to improve the prediction of disease progression. Mutations in SF3B1 are predominantly subclonal genetic events in CLL, and hence are likely later events in the progression of CLL. Evidence of altered pre-mRNA splicing has been detected in CLL cases with SF3B1 mutations. Although the causative link between SF3B1 mutation and CLL pathogenesis remains unclear, several lines of evidence suggest SF3B1 mutation might be linked to genomic stability and epigenetic modification.

引用

页码：4627 / 4634

页数：8

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