DNMT3A R882突变在急性髓系白血病中的临床意义  

Clinical significance of DNMT3A R882 mutation in acute myeloid leukemia

作　　者：王蕾[1] 杨艳丽 张凤[1] 李佳佳[1] 耿英华 李骏[1] WANG Lei;YANG Yan-li;ZHANG Feng;LI Jia-jia;GENG Ying-hua;LI Jun(Department of Hematology,The First Affiliated Hospital of Bengbu Medical College,Bengbu Anhui 233004,China)

机构地区：[1]蚌埠医学院第一附院医院血液科,安徽蚌埠233004

出　　处：《蚌埠医学院学报》2020年第3期327-330,334,共5页Journal of Bengbu Medical College

摘　　要：目的:研究初发急性髓系白血病(AML)病人中DNA甲基化转移酶3A(DNMT3A)R882位点突变情况,并分析其相关临床资料特征。方法:运用DNA基因测序法检测116例AML病人与30例缺铁性贫血病人骨髓样本中DNMT3A R882突变情况。结果:116例初发AML病人中,DNMT3A R882突变共16例,包括R882H突变9例,R882C突变7例,且均为杂合突变,而良性对照组中无突变;DNMT3A R882突变型AML(Mut-DNMT3A)组病人核型正常的AML(NK-AML)人数及M4、M5人数多于DNMT3A野生型AML组(Wild-DNMT3A组)(P<0.05)。Mut-DNMT3A组病人年龄、外周血白细胞数及血小板数高于Wild-DNMT3A组(P<0.05)。Mut-DNMT3A组病人总生存率、无病生存率均低于Wild-DNMT3A组(P<0.05)。结论:DNMT3A R882突变易发生于AML病人,特别是NK-AML及M4、M5病人,且常合并高龄、高白细胞危险因素;DNMT3A R882突变是AML病人预后不良的生物学标志。Objective:To investigate the mutation of DNA methyltransferase 3A(DNMT3A)R882 in patients with acute myeloid leukemia(AML),and analyze the characteristics of related clinical data.Methods:The mutations of DNMT3A R882 in 116 patients with AML and 30 patients with iron deficiency anemia were detected using DNA gene sequencing.Results:Among 116 patients with AML,16 cases with DNMT3A R882 mutation were identified,which included 9 cases with R882H mutation and 7 cases with R882C mutation,all mutations were heterozygous mutations,while there was not mutation in benign control group.The number of patients with normal karyotype AML(NK-AML),and M4 and M5 in DNMT3A R882 mutation AML(Mut-DNMT3A)group were significantly higher than that in DNMT3A wild type AML(Wild-DNMT3A)group(P<0.05).The patient age,and white blood cell amount and platelet amount in peripheral blood in Mut-DNMT3A group were significantly higher than those in Wild-DNMT3A group(P<0.05).The overall survival rate and disease-free survival rate in Mut-DNMT3A group were significantly lower than those in Wild-DNMT3A group(P<0.05).Conclusions:DNMT3A R882 mutation is easy to occur in AML patients,especially NK-AML,M4 and M5 patients,and complicated with risk factors of old age and high white blood cell amonut.DNMT3A R882 mutation is a biological marker of poor prognosis in AML patients.

关 键 词：急性髓系白血病 DNA甲基化转移酶3A 突变 

分 类 号：R733.7[医药卫生—肿瘤]