四川医学2023，Vol.44Issue(11)：1127-1132,6.DOI:10.16252/j.cnki.issn1004-0501-2023.11.002
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
摘要
Abstract
Objective To explore clinical characteristics additional mutations in acute myeloid leukemia(AML)accompa-nied 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 recur-rence).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 dis-ease.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/CEBPAKey words
acute myeloid leukemia/next generation sequencing/CEBPA分类
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周英,程辉,关军,胡倩倩,王兰兰,程平,帅华洲,张婷,余丹,易雪..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[J].四川医学,2023,44(11):1127-1132,6.基金项目
武汉市卫生健康委员会临床科研项目(编号:WX19D47) （编号:WX19D47）
武汉市第一医院院内项目(编号:2019Y02) （编号:2019Y02）
