RUNX1 Mutations in Inherited and Sporadic Leukemia

被引：61

作者：

Bellissimo, Dana C. ^{[1
]}

Speck, Nancy A. ^{[1
]}

机构：

[1] Univ Penn, Dept Cell & Dev Biol, Abramson Family Canc Res Inst, Perelman Sch Med,Inst Regenerat Med, Philadelphia, PA 19104 USA

来源：

FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY | 2017年 / 5卷

基金：

美国国家卫生研究院;

关键词：

RUNX1; leukemia; myeloid neoplasms; leukemia predisposition; familial platelet disorder with predisposition for acute myeloid leukemia; pre-leukemia; ACUTE MYELOID-LEUKEMIA; HEMATOPOIETIC STEM-CELLS; FAMILIAL PLATELET DISORDER; ACUTE LYMPHOBLASTIC-LEUKEMIA; CLONAL HEMATOPOIESIS; DNA-DAMAGE; TRANSCRIPTION FACTORS; SOMATIC MUTATIONS; POINT MUTATIONS; MYELODYSPLASTIC SYNDROME;

D O I：

10.3389/fcell.2017.00111

中图分类号：

Q2 [细胞生物学];

学科分类号：

071009 ; 090102 ;

摘要：

RUNX1 is a recurrently mutated gene in sporadic myelodysplastic syndrome and leukemia. Inherited mutations in RUNX1 cause familial platelet disorder with predisposition to acute myeloid leukemia (FPD/AML). In sporadic AML, mutations in RUNX1 are usually secondary events, whereas in FPD/AML they are initiating events. Here we will describe mutations in RUNX1 in sporadic AML and in FPD/AML, discuss the mechanisms by which inherited mutations in RUNX1 could elevate the risk of AML in FPD/AML individuals, and speculate on why mutations in RUNX1 are rarely, if ever, the first event in sporadic AML.

引用

页数：11

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