急性髓系白血病免疫表型分析及NPM1基因突变检测  

Immunophenotypic analysis and NPM1 gene mutation detection of acute myeloid leukemia

作　　者：逄婷 刘志伟 邹茂贤 叶志权 胡淑芬 PANG Ting;LIU Zhiwei;ZOU Maoxian;YE Zhiquan;HU Shufen(Department of Clinical Laboratory,Guangzhou Panyu Central Hospital,Guangzhou,Guangdong 511400,China)

机构地区：[1]广东省广州市番禺区中心医院检验科,广东广州511400

出　　处：《检验医学与临床》2022年第8期1026-1029,1035,共5页Laboratory Medicine and Clinic

基　　金：广东省广州市番禺区科技计划项目(2018-Z04-65)。

摘　　要：目的研究急性髓系白血病(AML)患者的免疫表型,探讨核仁磷酸蛋白1(NPM1)基因突变在初诊AML患者中的发生率及其血液学特征。方法采用4色荧光免疫标记法对AML患者进行免疫分型。应用聚合酶链反应结合DNA测序法,检测70例初诊AML患者骨髓细胞中NPM1基因突变情况,分析该基因突变阳性AML患者的血液学特征。结果70例AML患者中M5型发病率最高,占28.57%。各AML亚型均较高表达CD38、CD13、CD33,而CD34和HLA-DR在M3型患者中的表达率最低。70例AML患者中共检出NPM1基因突变阳性患者13例,突变率为18.57%。NPM1阳性组CD34阳性率(15.38%)低于NPM1阴性组(64.91%),差异有统计学意义(P<0.05),其余免疫表型及血液学检查差异无统计学意义(P>0.05)。结论NPM1突变是AML患者常见的一种分子学异常,突变发生率较高,CD34阳性率降低。免疫表型检测可提高AML诊断的准确性。Objective To study the immunophenotype of patients with acute myeloid leukemia(AML),and to investigate the incidence and the hematological characteristics of nucleophosmin 1(NPM1)gene mutation in newly diagnosed AML patients.Methods Four-color fluorescence immunolabeling method was used for immunotyping of AML patients.Polymerase chain reaction combined with DNA sequencing was used to detect the mutation of NPM1 gene in bone marrow cells of 70 newly diagnosed AML patients,and the hematological characteristics of AML patients with positive mutation of NPM1 gene were analyzed.Results The incidence of M5 type was the highest in 70 AML patients,accounting for 28.57%.CD38,CD13 and CD33 were highly expressed in all AML subtypes,while the expression rates of CD34 and HLA-DR were lowest in M3 patients.Thirteen patients with NPM1 positive mutation were detected in 70 patients,and the positive mutation rate was 18.57%.The positive rate of CD34 in the NPM1 positive group(15.38%)was lower than that in the NPM1 negative group(64.91%),the difference was statistically significant(P<0.05).There was no statistical significance in the difference of other immunophenotypes and hematological tests(P>0.05).Conclusion NPM1 mutation is a common molecular abnormality in AML patients,with a high mutation rate and a lower positive rate of CD34.Immunophenotype detection can improve the diagnostic accuracy of AML.

关 键 词：核仁磷酸蛋白1 急性髓系白血病 基因突变 免疫表型 DNA测序 

分 类 号：R733.71[医药卫生—肿瘤]