摘要
目的:分析急性髓系白血病(AML)与骨髓增生异常综合征(MDS)患者22种常见基因突变的差异。方法:收集749例AML患者和218例MDS患者的骨髓标本,利用AML/MDS二代测序基因芯片检测22种基因的突变状态。结果:74.4%的AML和MDS患者至少检测到一种基因突变;142(65.1%)例MDS患者中检测到274个基因突变,而577(77.0%)例AML患者中检测到1224个基因突变。与MDS患者相比较,AML患者DNMT3A、IDH1、IDH2、FLT3、KIT、NPM1、NRAS和CEBPA基因的突变率升高(P<0.05),而ASXL1、EZH2、CBL、SRSF2、U2AF1、SF3B1、SETBP1和RUNX1基因突变率降低(P<0.05)。两种疾病之间TET2、JAK2、ZRSR2、ETV6、TP53和PHF6基因的突变率差异无统计学意义。年轻患者基因突变率与上类似;而老年患者中DNMT3A、IDH2、FLT3和NPM1基因突变在AML中的发生率高于MDS(P<0.05),U2AF1和SF3B1基因突变在AML中的发生率低于MDS(P<0.05)。结论:AML和MDS患者基因突变类型存在差异,不同年龄组AML患者和MDS患者的基因突变谱也不尽相同,DNMT3A、FLT3、NPM1、NRAS和CEBPA等基因突变在AML患者中常见,而ASXL1、U2AF1和RUNX1基因突变在MDS患者中较常见。
Aim:To analyze the differences of 22 common gene mutations between patients with acute myeloid leukemia(AML)and patients with myelodysplastic syndromes(MDS).Methods:Bone marrow samples of 749 patients with AML and 218 patients with MDS were collected,and the mutation status of 22 genes was detected by AML/MDS-Next Generation Sequencing chip.Results:At least one gene mutation was detected in 74.4%of AML or MDS patients,including 274 mutations in 142(65.1%)cases of MDS and 1224 mutations in 577(77.0%)cases of AML.Compared with MDS patients,the mutations of DNMT3A,IDH1,IDH2,FLT3,KIT,NPM1,NRAS and CEBPA genes were significantly increased in AML patients(P<0.05),while the mutations of ASXL1,EZH2,CBL,SRSF2,U2AF1,SF3B1,SETBP1 and RUNX1 genes were significantly decreased in AML patients(P<0.05).There was no significant differences in the incidence of mutations between the TET2,JAK2,ZRSR2,ETV6,TP53 or PHF6 genes between AML and MDS patients.In the young patients,the gene mutation profile was similar to the whole cohort.However,in the old patients,the incidences of DNMT3A,IDH2,FLT3 and NPM1gene mutations were significantly higher in AML patients than those of in MDS patients(P<0.05),meanwhile the incidences of U2AF1 and SF3B1 genes in AML patients were significantly lower than those in MDS patients(P<0.05).Conclusion:There are differences in gene mutation types between AML and MDS patients.There are also differences in gene mutation profiles of patients with AML and MDS between different age groups.Gene mutations such as DNMT3A,FLT3,NPM1,NRAS and CEBPA gene are common in AML patients,while ASXL1,U2AF1 and RUNX1 gene mutations are more common in MDS patients.
作者
廖林晓
王树娟
王冲
刘延方
常银银
王伟琼
马杰
李涛
陈胜梅
姜中兴
LIAO Linxiao;WANG Shujuan;WANG Chong;LIU Yanfang;CHANG Yinyin;WANG Weiqiong;MA Jie;LI Tao;CHEN Shengmei;JIANG Zhongxing(Department of Hematology,the First Affiliated Hospital,Zhengzhou University,Zhengzhou 450052;Shanghai Yuanqi Biological Medicine Technology Company Ltd,Shanghai 201400)
出处
《郑州大学学报（医学版）》
CAS
北大核心
2020年第3期335-339,共5页
Journal of Zhengzhou University(Medical Sciences)
基金
国家自然科学基金项目(81800137,U1804191)。
关键词
骨髓增生异常综合征
急性髓系白血病
基因突变
二代测序
myelodysplastic syndromes
acute myeloid leukemia
gene mutation
next generation sequencing
