核心结合因子相关急性髓系白血病的实验室诊断和预后影响因素分析  

Laboratory diagnosis and prognostic factor analysis of core binding factor-related acute myeloid leukemia

作　　者：丁静 张春玲 王小蕊[1] 李会丹 王洪玲 刘伟玲[1] 蔺丽慧[1] 李莉[1] DING Jing;ZHANG Chunling;WANG Xiaorui;LI Huidan;WANG Hongling;LIU Weiling;LIN Lihui;LI Li(Department of Clinical Laboratory,Shanghai General Hospital,Shanghai 200080,China)

机构地区：[1]上海市第一人民医院检验科,上海虹口200080

出　　处：《检验医学》2024年第7期673-681,共9页Laboratory Medicine

基　　金：科技部国家重点研发计划项目(2022YFC2009600);上海市第一人民医院临床研究创新团队项目(CTCCR-2019D04)。

摘　　要：目的分析核心结合因子(CBF)相关急性髓系白血病(AML)患者的年龄、性别等一般临床特征和相关实验室检测结果与疗效、复发和生存时间等预后因素的相关性,以期为临床优化治疗方案提供参考。方法选取2014年1月—2021年12月上海市第一人民医院使用标准诱导和巩固化疗方案的CBF-AML患者116例,其中77例接受了异基因造血干细胞移植(allo-HSCT)。根据融合基因分为伴RUNX1::RUNX1T1(第1组)AML和伴CBFB::MYH11(第2组)AML,采用Kaplan-Meier生存曲线分析2个组预后的差异。采用Cox回归分析评价预后影响因素。结果第1组和第2组基线特征[发病年龄、外周血白细胞计数和血红蛋白含量、骨髓原始细胞比例、额外染色体异常发生率、性染色体丢失、KRAS突变、NRAS突变]差异有统计学意义(P<0.05)。复发患者总生存期(OS)低于未复发患者(P=0.008)。男性、TET2突变和del(9q)的患者OS较短(P<0.05)。血小板计数<20×10~9·L-1的患者OS和无复发生存时间(RFS)均较短(P<0.05)。移植后复发患者的OS显著短于移植后未复发患者(P=0.001)。多因素Cox回归分析结果显示,复发、TET2突变和染色体del(9q)是CBF-AML患者OS缩短的显著危险因素(P<0.05),达到缓解天数是AML伴RUNX1::RUNX1T1患者OS的独立影响因素(P=0.038),骨髓原始细胞比例是AML伴CBFB::MYH11患者OS的独立影响因素(P=0.044)。结论CBF-AML患者2种融合基因亚组间在基线特征方面具有明显的异质性,TET2突变和del(9q)可显著影响患者生存天数,建议复发患者及时进行挽救性移植。应关注AML伴RUNX1::RUNX1T1患者达到缓解的天数,关注CBFB::MYH11患者原始细胞比例。Objective To analyze the correlation of general clinical characteristics(age and gender),laboratory determination results with prognosis(efficacy,recurrence and survival time)in patients with core binding factor(CBF)-related acute myeloid leukemia(AML),and to provide a reference for optimizing clinical treatment plans.Methods A total of 116 CBF-AML patients who received standard induction and consolidation chemotherapy at Shanghai General Hospital from January 2014 to December 2021 were enrolled,including 77 cases who received allogeneic hematopoietic stem cell transplantation(allo-HSCT).According to fusion genes,the subjects were classified into AML RUNX1::RUNX1T1(Group 1)and AML CBFB::MYH11(Group 2).Kaplan-Meier survival analysis and Cox regression analysis were used to evaluate the prognostic factors.Results There was statistical significance in baseline characteristics between Group 1 and Group 2,including age at onset,peripheral blood white blood cell count,hemoglobin level,bone marrow blast percentage,incidence of additional chromosomal abnormalities,sex chromosome deletion,KRAS mutation and NRAS mutation(P<0.05).The overall survival(OS)of patients with recurrence was lower than that of those without recurrence(P=0.008).Male,recurrence,TET2 mutation and del(9q)were related with poor OS(P<0.05).Patients with platelet count<20×109·L-1 had poor OS and relapse-free survival(RFS)(P<0.05).The OS of patients who recurred after transplantation was worse than that of patients who did not recurr after transplantation(P=0.001).Cox regression analysis showed that recurrence,TET2 mutation and chromosome del(9q)were risk factors for OS,and time to remission(days)was an independent influencing factor for OS in AML patients with RUNX1::RUNX1T1(P=0.038).The proportion of bone marrow blast percentage was an independent influencing factor for OS in AML patients with CBFB::MYH11(P=0.044).Conclusions There is heterogeneity in baseline characteristics between the 2 fusion genes of CBF-AML patients.TET2 mutation and del(9q)sign

关 键 词：急性髓系白血病 核心结合因子 突变 复发 实验室诊断 预后 

分 类 号：R733.71[医药卫生—肿瘤]