附加基因突变在伴CEBPA双突变急性髓系白血病中的临床价值  

Clinical Analysis of the Additional Mutations in AML Accompanied with CEBPA Double Mutation

作　　者：周英[1] 关军[1] 胡倩倩 王兰兰 程平[1] 帅华洲 张婷[1] 余丹[1] 易雪[1] 程辉[1] Zhou Ying;Guan Jun;Hu Qianqian(Department of Hematology,Wuhan NO.1 Hospital,Wuhan,Hubei 430022;Hubei University of Chinese Medicine,Wuhan,Hubei 430065,China)

机构地区：[1]武汉市第一医院血液内科,湖北武汉430022 [2]湖北中医药大学,湖北武汉430065

出　　处：《四川医学》2023年第11期1127-1132,共6页Sichuan Medical Journal

基　　金：武汉市卫生健康委员会临床科研项目(编号:WX19D47);武汉市第一医院院内项目(编号:2019Y02)。

摘　　要：目的探讨附加突变对伴CEBPA双突变(CEBPA dm)急性髓系白血病(AML)患者的影响,分析临床特征及预后。方法纳入我院从2016年8月至2021年6月收治的14例初诊的CEBPA dm AML患者。患者在治疗前均行骨髓细胞学、流式免疫分型、细胞遗传学、融合基因、基因突变检测,其中CEBPA突变均经验证为体细胞来源。分析患者临床特征及基因突变谱变化规律,评估其预后的相关性。结果患者均为正常核型CEBPA dm AML,首疗程化疗后完全缓解(CR)率为92.9%;截至随访结束,复发5例(35.7%),死亡4例(均死于疾病复发),中位复发时间3年(0.3~6)年,中位总生存时间(OS)3.0年(0.5~8)年。截至随访期,接受异基因造血干细胞移植(allo-HSCT)的4例患者均无病生存。5例复发的患者在化疗随访过程中均检测到CEBPA dm和新的附加突变,伴或不伴染色体核型演化。CCS相关基因突变与患者无复发生存率相关,与OS无统计学关联。结论CCS相关基因突变与CEBPA dm AML预后相关;基于NGS的MRD监测有助于指导该类患者精准治疗。Objective To explore clinical characteristics additional mutations in acute myeloid leukemia(AML)accompanied with CEBPA double mutation(CEBPA dm).Methods Total 14 cases newly diagnosed as AML accompanied with CEBPA double mutation(CEBPA dm AML)who were treated in our hospital between August 2016 and June 2021 were included.All cases underwent examinations of bone marrow cytology,flow immunotyping,cytogenetics,fusion gene,and gene mutationbefore treatment,in which all CEBPA mutations were verified as somatic cell origin.Cliniclal changes were analyzed for evaluating its correlation with prognosis.Results All cases had normal karyotype of CEBPA dm AML,and complete remission(CR)rate after the first course of chemotherapy was 92.9%.By the end of follow-up,there had been 5 cases(35.7%)of recurrence and 4 cases of death(for recurrence).Median recurrence-free interval was 3(0.3~6)years,and median overall survival(OS)was 3.0(0.5~8)years.By the end of follow-up period,all 4 cases who received allogenic hematologic stem cell transplantation(allo-HSCT)survived without disease.As for the 5 cases of recurrence,CEBPA dm and additional mutations with or without chromosomal karyotype evolution were detected during the follow-up.CCS-related gene mutations were associated with relapse-free survival(RFS)of the patients,but not associated with OS.Conclusion CCS-related gene mutations are associated with prognosis of CEBPA dm AML.MRD monitoring based on NGS may guide precise treatment for relevant patients.

关 键 词：急性髓系白血病 高通量测序 CEBPA 

分 类 号：R55[医药卫生—血液循环系统疾病]