NPM1、FLT3、DNMT3A共突变急性髓系白血病的临床特征、预后及生物信息学分析  

Clinical characteristics,prognosis and bioinformatics analysis of NPM1,FLT3 and DNMT3A co-mutant acute myeloid leukemia

作　　者：杨晓晓 罗兴春 郭元成 朱玉 刘蓓[1,3] Yang Xiaoxiao;Luo Xingchun;Guo Yuancheng;Zhu Yu;Liu Bei(The First Clinical Medical School,Lanzhou University,Lanzhou 730000,China;Department of Hematology,Xi'an Central Hospital,Xi'an 710000,China;Department of Hematology,The First Hospital of Lanzhou University,Lanzhou 730000,China)

机构地区：[1]兰州大学第一临床医学院,甘肃兰州730000 [2]西安市中心医院血液科,陕西西安710000 [3]兰州大学第一医院血液科,甘肃兰州730000

出　　处：《兰州大学学报（医学版）》2023年第4期32-38,共7页Journal of Lanzhou University（Medical Sciences）

摘　　要：目的探讨成人急性髓系白血病(AML)患者的临床特征、预后及特殊基因突变的生物信息学分析结果。方法回顾性分析222例AML患者的临床特征及生存情况,分析单中心三突变(NPM1+FLT3-ITD+DNMT3A+)组与非三突变(NPM1+FLT3-ITD+DNMT3A-)组患者的预后差异;选择基因表达数据库中AML样本,分析三突变组与非三突变组患者的预后差异。结果222例AML患者中位年龄为54岁,25.2%预后良好,21.2%预后不良。NPM1突变率较高,且易与FLT3-ITD和DNMT3A共突变,患者初次诱导治疗后完全缓解率(CR)为63.7%。中位生存期为21个月,1年总生存期(OS)为57.5%,三突变患者中位OS仅为6.9个月,1年OS为42%,三突变患者染色体核型正常多见,诱导治疗CR低。数据库生物信息学分析表明三突变组较非三突变组生存期短(P<0.05)。结论222例新诊断的成人AML患者临床特征、基因突变谱及OS与既往研究相近,三突变患者预后较差;GNG4是三突变AML的差异表达基因,可能与三突变AML发病机制相关。:Objective To explore the clinical characteristics,prognosis and results of bioinformatics analysis of specific gene mutations in single-center adult acute myeloid leukemia(AML)patients.Methods Retrospective analysis was performed to examine the clinical characteristics and survival of 222 AML patients.The difference in prognosis between the single-center triple-mutated(NPM1+FLT3-ITD+DNMT3A+)group and the non-triple mutated(NPM1+FLT3-ITD+DNMT3A-)group was analyzed.The AML Samples was selected from the Gene Expression Omnibus to analyze the prognostic differences between patients with triple-mutated and non-triple-mutated.Results The median age of 222 AML patients was 54 years,with 25.2%having a favorable prognosis and 21.2%had an adverse prognosis.The NPM1 mutation rate was high and prone to co-mutation with FLT3-ITD and DNMT3A,and the complete response(CR)rate after first induction therapy was 63.7%.The median survival time was 21 months,with a 1-year overall survival(OS)rate of 57.5%,while the median survival time of patients with triple-mutation was only 6.9 months,with a 1 year OS rate of 42%,and normal karyotype is common in patients with a triple-mutation;they also had a low remission rate with the induction therapy.The bioinformatic analysis showed that the triple-mutated group had a shorter survival than the non-triple-mutated group(P<0.05).Conclusion Clinical characteristics,gene expression profiling and OS of the 222 newly diagnosed adult AML patients were similar to other centers,and patients with triple-mutation had a poorer prognosis.GNG4 is a differentially expressed gene in triple-mutated AML and may be associated with triple-mutated AML pathogenesis.

关 键 词：成人急性髓系白血病 临床特征 三突变 生物信息学 鸟嘌呤核苷酸结合蛋白γ亚基4 

分 类 号：R733.71[医药卫生—肿瘤]