成年人正常核型急性髓系白血病基因突变检测研究进展  

Advances on gene mutations of adult acute myeloid leukemia with normal karyotypes

作　　者：杨一宁(综述)[1] 王椿(审校)[1] 

机构地区：[1]上海交通大学附属第一人民医院血液科,200080

出　　处：《白血病．淋巴瘤》2012年第2期122-125,共4页Journal of Leukemia & Lymphoma

摘　　要：急性髓系白血病（AML）是一种对于治疗反应和预期生存高度异质性的疾病。一些不能由传统细胞遗传学方法检测出来的基因突变已经被发现，包括FMS样酪氨酸激酶3（FLT3）基因，核磷蛋白1基因（NPM1）和CCAAT增强结合蛋白α基因（CEBPA）。而且，近年来不断有新的突变基因如异柠檬酸脱氢酶基因1／2（IDH1／2）和肾母细胞瘤基因1（WT1）逐渐为人所知。现探讨这些突变基因的结构、特点以及对于成年人正常核型AML预后的影响。Acute myeloid leukemia （AML） is a disease with marked heterogeneity in both response to therapy and survival. Numerous genetic mutations which cannot be identified by cytogenetic detection have been found including gene mutations in Fms-liketyrosine kinase 3 （FLT3）, nucleophosmin 1 （NPM1）, and CCAAT enhancer-binding protein-or （CEBPA）. Furthermore, the panel of known molecular markers is continuously increasing, for example, considering the recently described isocitrate dehydrogenase （IDH1/2） and Wilms Tumour 1 gene （WT1） mutations. This review focuses on the structures and features of these gene mutations, as well as their influence on the prognosis of AML.

关 键 词：白血病 髓样 急性 正常核型 突变 预后 

分 类 号：R733.71[医药卫生—肿瘤]