【摘要】 目的：探究初诊低危型急性髓系白血病（AML）复发时的分子学特点，分析影响复发后再治疗效果及预后的因素。方法：回顾性分析2017年4月至2023年1月期间于本院巩固治疗中或治疗后随访期间复发的31例初诊低危型AML患者的临床及实验室资料，对比复发前后的基因突变情况，评估患者复发后再次干预治疗的疗效，并对影响疗效及预后的因素进行单因素和多因素分析。结果：复发后的基因检测结果显示，最常见的新发突变基因是FLT3-ITD，而初诊时的突变基因RAS在复发时易发生表达缺失。整个队列复发后的中位生存时间为349(170-528)d，非移植组与移植组复发后的中位生存时间分别为210(106-314)d和未达到（P=0.001）。多因素分析结果显示，年龄≥60岁是影响初诊低危型AML复发后再治疗获得缓解的危险因素（OR=18.222,95%CI:1.188-279.597,P=0.037）;DNMT3A突变是影响患者总生存期（OS）的独立危险因素（HR=13.165,95%CI:2.018-85.877,P=0.007），而复发后接受造血干细胞移植则显示出显著的生存获益（HR=0.133,95%CI:0.025-0.698,P=0.017），是OS的独立保护因素。结论：低危型AML复发时常伴原有RAS的缺失及FLT3-ITD的新发突变。年龄≥60岁及DNMT3A突变分别是再次缓解及复发后生存的不利因素，而HSCT能显著改善患者的预后。更多还原

【Abstract】 Objective: To investigate the molecular characteristics of low-risk acute myeloid leukemia(AML) at recurrence, and analyze the factors affecting retreatment efficacy and prognosis. Methods: A retrospective analysis was conducted on the clinical and laboratory data of 31 patients with newly diagnosed low-risk AML who relapsed during consolidation treatment or follow-up after treatment in our hospital from April 2017 to January 2023. Gene mutations before and after relapse were compared, retreatment efficacy following relapse was evaluated, and univariate and multivariate analyses were performed to identify factors influencing treatment efficacy and prognosis. Results: Gene sequencing results after relapse showed that the most common newly acquired mutation was FLT3-ITD, while RAS mutation detected at initial diagnosis were predisposed to loss of expression during relapse. The median overall survival(OS) after relapse for the entire cohort was 349(170-528) days, with non-hematopoietic stem cell transplantation(HSCT) group and HSCT group demonstrating median survival times of 210(106-314) days and not reached, respectively(P=0.001). Multivariate analysis revealed that age ≥60 years was a significant risk factor for achieving remission after retreatment in initially diagnosed low-risk AML patients who experienced relapse(OR=18.222, 95%CI: 1.188-279.597, P=0.037). Additionally, DNMT3A mutation was identified as an independent risk factor for OS(HR=13.165, 95%CI: 2.018-85.877, P=0.007), while HSCT post-relapse demonstrated significant survival benefits(HR=0.133, 95%CI: 0.025-0.698, P=0.017) and served as an independent protective factor for OS. Conclusion: Relapsed low-risk AML is often associated with loss of RAS and novel mutations in FLT3-ITD. Age ≥60 years and DNMT3A mutations were identified as independent adverse factors for achieving subsequent remission and post-relapse survival, respectively, while HSCT significantly improved patient outcomes.更多还原