Genetic defects in hematopoietic transcription factors and predisposition to acute lymphoblastic leukemia

被引：34

作者：

Gocho, Yoshihiro ^{[1
,2
]}

Yang, Jun J. ^{[1
,2
,3
]}

机构：

[1] St Jude Childrens Res Hosp, Hematol Malignancies Program, Ctr Comprehens Canc, 332 N Lauderdale St, Memphis, TN 38105 USA

[2] St Jude Childrens Res Hosp, Dept Pharmaceut Sci, 332 N Lauderdale St, Memphis, TN 38105 USA

[3] St Jude Childrens Res Hosp, Dept Oncol, 332 N Lauderdale St, Memphis, TN 38105 USA

来源：

BLOOD | 2019年 / 134卷 / 10期

基金：

美国国家卫生研究院;

关键词：

MINIMAL RESIDUAL DISEASE; HIGH-FREQUENCY; B-CELLS; ETV6; MUTATIONS; VARIANTS; RISK; PAX5; THROMBOCYTOPENIA; RECOMMENDATIONS;

D O I：

10.1182/blood.2018852400

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Recent genome-wide studies have revealed a plethora of germline variants that significantly influence the susceptibility to acute lymphoblastic leukemia (ALL), thus providing compelling evidence for genetic inheritance of this blood cancer. In particular, hematopoietic transcription factors (eg, ETV6, PAX5, IKZF1) are most frequently implicated in familial ALL, and germline variants in these genes confer strong predisposition (albeit with incomplete penetrance). Studies of germline risk factors for ALL provide unique insights into the molecular etiology of this leukemia.

引用

页码：793 / 797

页数：5

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