江西省急性髓系白血病NPM1和FLT3-ITD基因突变分析  

Mutation analysis of NPM1 and FLT3-ITD gene in acute myeloid leukemia in Jiangxi Province

作　　者：简正伟[1] 石淙[2] 闻芳[2] 万腊根[2] 张长林[2] 

机构地区：[1]南昌大学第四附属医院检验科,江西南昌330003 [2]南昌大学第一附属医院检验科,江西南昌330006

出　　处：《实验与检验医学》2015年第5期553-555,567,共4页Experimental and Laboratory Medicine

基　　金：江西省科技支撑计划项目(编号:20121BBG70049)

摘　　要：目的检测急性髓系白血病患者NPM1和FLT3-ITD基因突变情况,分析其突变和临床之间的关系。方法提取患者骨髓标本DNA,采用AS-PCR技术检测FLT3-ITD和NPM1基因突变情况,分析基因突变与白血病FAB分型关系。结果在187例患者中,检测出52例NPM1基因突变,突变率为27.8%;有28患者被检测出FLT3-ITD基因突变,突变率为14.97%;同时具有NPM1和FLT3-ITD基因突变的有13例,突变率为6.95%。其中NPM1基因突变在M5、M2中较为多见,而FLT3-ITD基因突变在M1、M4中较为多见。结论检测NPM1和FLT3-ITD基因突变可以给临床治疗提供指导意义。To evaluate the NPM1 and FLT-3 mutation in patients with acute myeloid leukemia（AML）, and reveal the correlation between mutation and clinic characteristics of patients. Methods Genomic DNA was extracted from bone marrow of AML patients, and AS-PCR technique was used to detect the mutation of FLT3-ITD and NPM1 gene, then we analyze the relationship between gene mutation and FAB typing. Results NPM1 mutation was detected in 52（27.8%） of the 187 AML patients, FLT3-ITD mutation was detected in 28（14.97%） cases, and 13（6.95%） cases have both of the mutations. The mutation of NPM1 was mainly found in the M5 or m^2 type, and FLT3-ITD gene mutation always occurred in the M1 or M4 type. Conclusion The detection of NPM1 and FLT3-ITD mutations may contribute to clinic treatment of patients with AML.

关 键 词：NPM1突变体 FLT3-ITD突变体 急性髓系白血病 

分 类 号：R733.71[医药卫生—肿瘤]