正常核型急性髓系白血病患者NPM1基因突变及其预后价值分析  

Analysis of NPM1 mutation and its prognostic value in patients with normal karyotype acute myeloid leukemia

作　　者：王香梅[1,2] 金莱[3] 胡慧仙[4] 张素丽[4] 胡英萍[1,2] 

机构地区：[1]金华市中心医院 [2]浙江大学金华医院检验科,浙江金华321000 [3]浙江省人民医院血液科,浙江杭州310000 [4]金华市中心医院血液科,浙江金华321000

出　　处：《中国卫生检验杂志》2015年第14期2322-2324,共3页Chinese Journal of Health Laboratory Technology

基　　金：金华市科技局计划项目(2010A33288)

摘　　要：目的分析初治正常核型急性髓系白血病患者NPM1基因突变和预后的关系。方法使用高分辨率溶解曲线法(HRM)对118例初治的正常核型急性髓系白血病患者进行NPM1基因分析及选取典型的单克隆质粒进行测序验证。并将患者分为NPM1突变组和NPM1无突变组进行统计学分析。结果 118例患者中检出NPM1突变患者有36例(30.5%),突变以女性居多;突变患者初发时血小板高于NPM1无突变组患者,差异有统计学意义。白细胞数、血红蛋白、年龄、骨髓原始细胞数、1疗程缓解率两组间比较,差异均无统计学意义。经Log-rank单因素分析:NMP1是否突变对患者的5年中位生存时间(OS)和无病生存时间均无影响。结论正常核型急性髓系白血病患者NPM1单基因突变并不预示患者的生存预后良好。Objective To analyze the relationship between the NPM1 gene mutation in patients with initial normal karyotype acute myeloid leukemia and the prognosis. Methods The high resolution dissolve curve method（ HRM） was used to analyze the NPM1 genes in 118 patients with initial normal karyotype acute myeloid leukemia and then the typical monoclonal plasmids were collected to validate with the method of sequencing. The patients were divided into two groups- the NPM1 mutation group and the NPM1 non- mutation group,and the statistics was used to analyze the difference between the two groups. Results There were 36 patients with NPM1 mutations in the 118 patients,especially in women. The platelet counts in initial mutation group was higher than that of the non- mutation group,and the difference was statistically significant. There were no statistical significance on the differences in platelet counts,hemoglobin,age,marrow blast counts and response rate of one course. Log- rank single- factor analysis showed that there was no effect on patients with 5 years OS and DFS whether NMP1 mutated. Conclusion It is not predicted that NPM1 single gene mutation of patients with normal karyotype acute myeloid leukemia have favorable prognosis.

关 键 词：白血病 基因 NPM1 

分 类 号：R733.71[医药卫生—肿瘤]