基于高通量测序技术的急性髓系白血病患者的基因突变谱和预后分析

目的:探讨急性髓系白血病(AML)患者的基因突变谱及其预后意义.方法:回顾性分析2014年3月至2018年4月于本院采用高通量测序技术(HTS)行基因突变检测的93例初治AML患者的临床资料,描述突变基因的分布情况并对中危组(IR-AML)患者进行预后分析.结果:93例AML患者中有88.17％至少发生1个基因突变,多...

Mutational Spectrum and Prognosis Analysis of AML Patients Based on High-Throughput Sequencing

Objective:To investigate the mutational spectrum and its prognostic significance in patients with acute myeloid leukemia(AML).Methods:The clinical data of 93 patients with newly diagnosed AML who underwent gene mutation detection by high-throughput sequencing(HTS)from March 2014 to April 2018 in our hospital was analyzed retrospectively.The distribution of mutant genes was summarized and the prognostic factors for intermediate-risk acute myeloid leukemia(IR-AML)were analyzed.Results:Among 93 AML patients,88.17%had at least one gene mutation,and 53.76%patients showed more than one recurrent genetic mutation.CEBPA showed the highest mutation frequency(20.4%),followed by ASXL1,TET2,NRAS,FLT3-ITD,NPM1,IDH2,DNMT3 A,and their mutation frequency were higher than 10%.IDH1/2 and NPM1,ASXL1 and U2 AF1,FLT3 and NPM1 often co-occured(P<0.05).In the prognosis analysis of 57 patients with IR-AML,the IDH2 mutation related with poor overall survival(OS)and progression-free survival(PFS)(P<0.05).The prognosis analysis of IR-AML patients showed that age≥50 years,WBC>100×10⁹/L,anemia,and CD22⁺were independent risk factors for OS.Age)50 years,WBC>100×10⁹/L,anemia,CD34⁺,IDH2 mutation were independent risk factors for PFS.Conclusion:There are co-occurring mutation patterns between the mutated genes.IDH2 mutations relates with poor prognosis and possesses potential to be molecules for model of IR-AML prognostic stratification.Genetic testing based on HTS contributes to revealing the pathogenic mechanism of AML,and is significant for evaluating the prognosis of patients with AML.