正常核型急性髓系白血病NPM1基因突变的临床研究  

Study of NPM1 gene mutation in acute myeloid leukemia with normal karyotype

作　　者：孙超[1] 夏珺[1] 张苏江[2] 李建勇[2] 沈云峰[1] 

机构地区：[1]南京医科大学附属无锡市人民医院,江苏无锡214023 [2]南京医科大学第一附属医院

出　　处：《山东医药》2011年第12期17-20,共4页Shandong Medical Journal

摘　　要：目的探讨正常核型急性髓系白血病(AML)患者核仁磷酸蛋白1(NPM1)基因突变发生情况,并了解其临床特征及预后。方法采用基因组DNA-PCR方法检测123例初发AML患者NPM1基因及正常核型AML患者FMS样酪氨酸激酶3(FLT3)基因,直接测序法检测AML患者NPM1基因第12外显子的突变情况,琼脂糖电泳分析正常核型AML患者FLT3基因内部串联重复(ITD)突变。结果 123例AML患者中检出NPM1突变24例(19.5%),其中A型突变22例、B型突变1例、D型突变1例。57例正常核型中FLT3-ITD阳性10例,其中5例同时发生NPM1和FLT3-ITD两种突变。NPM1突变在正常核型中的发生率为40.3%(23/57),显著高于异常核型的2.1%(1/47)(P<0.01)。正常核型中NPM1基因突变者发病年龄高、缓解率高,但合并FLT3-ITD突变者缓解率低。结论 NPM1基因突变是AML尤其是正常核型AML患者常见的分子学异常,NPM1基因突变检测对指导AML患者治疗及评估预后有重要意义。Objective To investigate the frequency of nucleophosmin（NPM1） mutation and its correlation with clinical features and prognosis in acute myeloid leukemia（AML） patients with normal karyotype.Methods 123 newly diagnosed AML patients were involved in our study.Polymerase chain reaction（PCR） combined with electrophoresis methods were used to detect FLT3-ITD mutation in AML with normal karyotype,and PCR combined with direct sequencing were used to detect NPM1 mutation in all patients.Results Twenty-four（19.5%） patients were NPM1 muation,including twenty-two with type-A mutation,one with type-B mutation and one with type-D mutation.Ten patients were found harboring FLT3-ITD mutation and five patients were co-existing FLT3-ITD and NPM1 mutations in AML with normal karyotype.NPM1 mutation ratio was 40.3%（23/57） in AML patients with normal karyotype,which was significantly higher than that with abnormal karyotype 2.1%（1/47）（P0.01）.The age and the complete remission rate in NPM1 mutation postive patients were both higher than ones without the mutation.The complete remission rate of patients co-existing FLT3-ITD and NPM1 mutations was low.Conclusion NPM1 gene mutation is common in AML patients,and detection of FLT3 and NPM1 gene mutations will be beneficial for treatment and prognosis analysis of AML patients.

关 键 词：NPM1 白血病 髓系 急性 突变 

分 类 号：R733.71[医药卫生—肿瘤]