摘要
目的:探讨神经母细胞瘤RAS病毒致癌基因(NRAS)在急性髓系白血病患者中的突变率及分布情况。方法:提取骨髓基因组DNA,采用聚合酶链式反应技术(polymerase chain reaction,PCR)扩增目的基因片段,应用基因测序分析NRAS基因突变情况。同时检测FLT3-ITD、DNMT3A、NPM1、CEBPA、TET2、IDH2、ASXL1及c-KIT基因突变情况,分析其与NRAS突变之间的关系。结果:108例初发急性髓系白血病患者中共发现NRAS突变11例,突变率为10.2%,其中G12D 6例、G13D 3例、G61K 2例。突变组患者外周血白细胞计数偏高(P<0.05),突变更易发生在M4亚型中,而与M2亚型相互排斥(P<0.05),突变组较未突变组更易表达CD13(P<0.05),而在年龄、性别、血红蛋白水平、血小板计数、乳酸脱氢酶水平、骨髓原始细胞比例、细胞遗传学变化、与其他基因突变的关系以及完全缓解(CR)率和2年总生存(OS)率方面差异均无统计学意义(P>0.05)。结论:NRAS基因突变对AML患者的预后无影响。
Objective:To investigate the mutation rate and distribution of Homo sapiens neuroblastoma RAS viral oncogene homolog(NRAS)gene in the patients with acute myeloid leukemia.Methods:The genomic DNA of bone marrow was screened by polymerase chain reaction(PCR)and sequencing for NRAS mutations.At the same time,the mutations of ASXL1,DNMT3 A,TET2,CEBPA,FLT3,IDH2,NPM1 and c-KIT genes were also detected to analyze the relation with NRAS mutations.Results:A total of 11 NRAS mutations were found in 108 patients with initial acute myeloid leukemia and the mutation rate was 10.2%,including 6 cases of G12 D,3 cases of G13 D,and 2 cases of G61 K.In the mutation group,the peripheral blood leukocyte count was higher(P<0.05),more likely to occur in the M4 subtype,and the M2 subtype was mutually exclusive(P<0.05).Moreover,the mutant group was more likely to express CD13 than the non-mutation group(P<0.05),while no statistic difference was found in age,gender,hemoglobin level,platelet count,lactate dehydrogenase level,bone marrow blast,cytogenetics,complete remission rate and overall survival(P>0.05).Conclusions:The mutation of NRAS gene has no effect on the prognosis of AML patients.
作者
李甜甜
李骏
耿英华
张凤
刘林
杨艳丽
LI Tian-Tian;LI Jun;GENG Ying-Hua;ZHANG Feng;LIU Lin;YANG Yan-Li(Department of Hematology,The First Affiliated Hospital of Bengbu Medical College,Bengbu 233000,Anhui Province,China)
出处
《中国实验血液学杂志》
CAS
CSCD
北大核心
2020年第1期76-81,共6页
Journal of Experimental Hematology
基金
安徽省蚌埠医学院科技发展基金项目(编号BYKF1885).
