The Changing Mutational Landscape of Acute Myeloid Leukemia and Myelodysplastic Syndrome

被引：66

作者：

Larsson, Connie A. ^{[1
,5
]}

Cote, Gilbert ^{[2
,3
]}

Quintas-Cardama, Alfonso ^{[4
]}

机构：

[1] Univ Texas MD Anderson Canc Ctr, Dept Genet, Houston, TX 77030 USA

[2] Univ Texas MD Anderson Canc Ctr, Dept Endocrine Neoplasia, Houston, TX 77030 USA

[3] Univ Texas MD Anderson Canc Ctr, Dept Hormonal Disorders, Houston, TX 77030 USA

[4] Univ Texas MD Anderson Canc Ctr, Dept Leukemia, Houston, TX 77030 USA

[5] Univ Texas MD Anderson Canc Ctr, Univ Texas Grad Sch Biomed Sci, Program Genes & Dev, Houston, TX 77030 USA

来源：

MOLECULAR CANCER RESEARCH | 2013年 / 11卷 / 08期

关键词：

IDENTIFIES SOMATIC MUTATIONS; METHYLTRANSFERASE GENE EZH2; 3' SPLICE-SITE; PROGNOSTIC IMPACT; ACQUIRED MUTATIONS; IDH2; MUTATIONS; TET2; GENOMIC STABILITY; DNMT3A MUTATIONS; DNA;

D O I：

10.1158/1541-7786.MCR-12-0695

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

Over the past few years, large-scale genomic studies of patients with myelodysplastic syndrome (MDS) and acute myelogenous leukemia (AML) have unveiled recurrent somatic mutations in genes involved in epigenetic regulation (DNMT3A, IDH1/2, TET2, ASXL1, EZH2 and MLL) and the spliceosomal machinery (SF3B1, U2AF1, SRSF2, ZRSR2, SF3A1, PRPF40B, U2AF2, and SF1). The identification of these mutations and their impact on prognostication has led to improvements in risk-stratification strategies and has also provided new potential targets for the treatment of these myeloid malignancies. In this review, we discuss the most recently identified genetic abnormalities described in MDS and AML and appraise the current status quo of the dynamics of acquisition of mutant alleles in the pathogenesis of AML, during the transformation from MDS to AML, and in the context of relapse after conventional chemotherapy. Implications: Identification of somatic mutations in AML and MDS suggests new targets for therapeutic development. (C) 2013 AACR.

引用

页码：815 / 827

页数：13

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