FLT3、NPM1、DNMT3A及IDH基因突变对非M3型急性髓系白血病预后影响的研究进展  

Prognosis of FLT3, NPM1, DNMT3A and IDH mutations in non-M3 acute myeloid leukemia

作　　者：马莹莹[1] 侯丽虹[1] 

机构地区：[1]山西医科大学第二临床医院血液科,太原030001

出　　处：《白血病．淋巴瘤》2017年第4期252-256,共5页Journal of Leukemia & Lymphoma

基　　金：山西省回国留学人员科研资助项目（2015-102）

摘　　要：非M3型急性髓系白血病（AML）是一组异质性恶性血液系统疾病,无论在形态学、免疫学、细胞遗传学、分子生物学及临床特点上都存在很大差异.细胞遗传学检测结果已经成为AML精确诊断、治疗选择和预后判断的主要依据之一,但由于在分子水平上存在高度的异质性,常规细胞遗传学技术检出率不高.有40%~50%的AML患者在初诊时用标准的染色体显带分析方法检测不到克隆性染色体畸变,被称为正常核型AML.非M3型AML较常见的分子遗传学改变为FLT3、NPM1、DNMT3A、IDH基因突变.文章主要就四种基因的特点、发病机制及对非M3型AML的预后影响作一综述.Acute myeloid leukemia （AML） is a group of heterogeneous malignant diseases in hematological system, with significant differences in morphology, immunology, genetics, molecular biology and clinical manifestations. Cytogenetics detection has become one of the main bases for the accurate diagnosis, treatment options and prognosis judgement of AML. However, the high heterogeneity at the molecular level leads to low detection rate by conventional cytogenetics detection technology. Clonal chromosome aberrations in 40 %ˉ50 % of patients with AML could not be detected by using standard chromosomal banding, which might be called normal karyotype AML （NK-AML）. The common molecular genetic changes in non-M3 AML includes FLT3, NPM1, DNMT3A and IDH mutations. This paper mainly reviews the characteristics of the above four genes, pathogenesis and prognosis of non-M3 AML.

关 键 词：白血病 髓样 急性 基因 FLT3 基因 NPM1 基因 DNMT3A 基因 IDH 

分 类 号：R733.71[医药卫生—肿瘤]