急性髓系白血病NPM1基因突变的研究  

Analysis of NPM1 Gene Mutations in Acute Myeloid Leukemia

作　　者：戴丹[1] 张苏江[2] 乔纯[2] 孙雪梅[3] 钱思轩[2] 徐卫[2] 徐燕丽[1] 李建勇[2] 

机构地区：[1]南京医科大学附属南京第一医院血液科,江苏南京210006 [2]南京医科大学第一附属医院江苏省人民医院血液科,江苏南京210029 [3]南京中医药大学附属医院,江苏省中医院血液科,江苏南京210029

出　　处：《中国实验血液学杂志》2009年第2期294-297,共4页Journal of Experimental Hematology

基　　金：江苏省卫生厅医学科研课题(编号H200703);南京市医学科技发展项目(编号YKK08093)

摘　　要：本研究旨在探讨急性髓系白血病(AML)患者NPM1基因突变情况及临床特征。采用PCR扩增产物直接测序法检测33例AML患者NPM1基因第12外显子的突变情况,了解NPM1基因突变阳性患者的临床特征。结果显示:33例AML患者中共检出8例(24.2%)具有NPM1基因突变,其中M11例、M23例、M41例、M53例。19例正常核型AML患者中7例(36.8%)发生NPM1基因突变,明显高于异常核型组(14例中1例,7.1%)(p<0.05)。NPM1基因突变型患者骨髓原始细胞比例及外周血白细胞计数均高于野生型组(p值均<0.05)。结论:NPM1基因第12外显子的突变多见于正常核型AML患者,突变患者骨髓原始细胞比例及外周血白细胞数量增多。The aim of this study was to evaluate the nucleophosmin （ NPM1 ） gene exon 12 mutation in patients with acute myelogenous leukemia （AML） and its clinical characteristics. Genomic DNAs from 33 AML patients were amplified by PCR and sequencing for NPM1 mutations. The results showed that the NPM1 exon 12 mutations were found is 8 patients from 33 AML patients （24.2%） including 1 of M1, 3 of M2, 1 of Ma and 3 of M5. The NPM1 gene mutations were found in 7 out of 19 patients with normal karyotype and their incidence was significantly higher than that in patients with karyotypie abnormalities （ 1/14,7.1%, p 〈 0. 005 ）. The proportion of bone marrow blast cells and the count of peripheral whilte blood cells in patients with NPMI exon 12 mutation were higher than that in patients with wild type NPMI gene. It is concluded that the occurrence of NPM1 exon 12 mutations is observed more in AML patients with normal karyotype. NPM1 mutant cases are associated with more high amount of boon marrow blast cells and peripheral white blood cell count.

关 键 词：NPM1基因突变 急性髓系白血病 DNA突变 

分 类 号：R733.71[医药卫生—肿瘤]