中国AML人群CEBPa、NPM1、FLT3-ITD基因突变发生率检测  

Detection of Gene Mutation Rate of CEBPa,NPM1 and FLT3-ITD in Patients with Acute Myeloid Leukemia in China

作　　者：廖长风[1] 刘礼平[1] 赖文鸿[1] 林传明[1] 李海亮[1] 

机构地区：[1]赣南医学院第一附属医院血液内科,江西赣州341000

出　　处：《赣南医学院学报》2016年第2期208-211,共4页JOURNAL OF GANNAN MEDICAL UNIVERSITY

基　　金：江西省卫生计生委科技计划资助项目(编号:20155410)

摘　　要：目的:回顾性分析大量病例的基因检测结果,阐述CEBPa、NPM1及FLT3-ITD这三种最常见的AML突变基因在中国人群中的发生率。方法:本研究总共从全国25家医院收集了878例AML成年患者的标本(包括骨髓和外周全血)的CEBPa、NPM1、FLT3-ITD基因突变检测的结果。结果:共检测出103例(11.7%)CEBPA基因突变,79例(9.0%)NPM1基因突变,以及71例(8.1%)FLT3-ITD基因突变阳性患者。在71例ITD基因突变阳性患者中,29例(40.8%)患者同时检测到NPM1基因突变阳性,12例(16.9%)患者同时有CEBPA基因突变。结论:本研究发现中国AML人群中CEBPA、NPM1和FLT3-ITD基因突变的发生率和国外文献报道的数据有所不同,为进一步探索其潜在原因提供了初步的数据依据。Objective： To analyze retrospectively the results of gene detection in a large number of cases and to describe the incidence of gene mutation of CEBPa,NPM1 and FLT3-ITD,three most common AML mutations,in the Chinese population. Methods： CEBPa,PM1,FLT3-ITD mutation detection in adult patients of 878 cases with AML were collected from 25 hospitals. Results： 103 cases（ 11. 7%） of CEBPA mutations,79 cases（ 9%） of NPM1 mutations,and 71 cases（ 8. 1%） of FLT3-ITD mutation were detected to be positive. In the 71 positive ITD mutation patients,29（ 40. 8%） patients were simultaneously detected NPM1 mutation,and 12 patients（ 16. 9%） had CEBPA mutation simultaneously.Conclusion： This study found CEBPA,NPM1,FLT3 gene mutation in Chinese AML population occurrence rate vary from the data reported in foreign literature. This provides preliminary data for further exploration of the underlying cause.

关 键 词：突变基因 急性髓系白血病 发生率 中国 

分 类 号：Q754[生物学—分子生物学]