摘要目的 研究KIT D816突变对伴t(8;21)初次复发急性髓系白血病(AML)挽救化疗疗效的影响.方法 回顾性分析自2010年1月至2017年10月10家医院血液科收治的伴t(8;21)初次复发AML接受挽救化疗患者的临床特征,计算其1个疗程挽救化疔完全缓解(CR2)率,分析其与KIT突变的相关性.结果 共68例患者纳入本研究,所有患者初诊时均进行了KIT基因突变检测,KIT基因突变阳性33例,其中26例为KIT D816突变.复发后1个疗程挽救化疗CR2率为44.1％.KIT D816突变组的1个疗程挽救治疗CR2率明显低于非KIT D816突变组(23.1％对57.1％,x2=7.559,P=0.006).第1次完全缓解(CR1)维持期≥12个月组CR2率显著高于CR1维持期＜12个月组(74.1％对31.9％,x2=9.192,P=0.002).CR1维持期与KIT D816突变存在显著相关性,CR1维持期≥12个月组中KIT D816突变患者比例显著低于CR1维持期＜12个月组(19.0％对46.8％,x2=4.737,P=0.030).KIT D816突变组复发后2年总生存率与非KIT D816突变组相比差异无统计学意义[(28.2±15.7)％对(55.1±11.1)％,P=0.060].结论 初诊时KIT D816突变与较短CR1维持期显著相关,是伴t(8;21)AML复发后CR2率的不良影响因素,可以作为其挽救治疗疗效的预测指标.KIT D816突变对伴t(8;21)复发AML治疗方案的选择有一定的指导意义.

abstractsObjective To evaluate the impact of KIT D816 mutation on the salvage therapy in relapsed acute myeloid leukemia (AML) with t(8;21) translocation.Method The characteristics of the first relapsed AML with t(8;21) translocation from 10 hospitals were retrospectively collected,complete remission (CR2) rate after one course salvage chemotherapy and the relationship between KIT mutation and CR2 rate was analyzed.Results 68 cases were enrolled in this study,and 30 cases (44.1％) achieved CR2.All patients received KIT mutation detection,and KIT D816 mutation was identified in 26 cases.The KIT D816 positive group had significantly lower CR2 compared with non-KIT D816 group (23.1％ vs 57.1％,x2 =7.559,P =0.006),and patients with longer CR1 duration achieved significantly higher CR2 than those with CR1 duration less than 12 months (74.1％ vs 31.9％,x2 =9.192,P=0.002).KIT D816 mutation was tightly related to shorter CR1 duration.No significant difference of 2 years post relapse survival was observed between KIT D816 mutation and non-KIT D816 mutation group.Conclusion KIT D816 mutation at diagnosis was an adverse factor on the salvage therapy in relapsed AML with t(8;21) translocation,significantly related to shorter CR1 duration,and can be used for prediction of salvage therapy response.KIT D816 mutation could guide the decision-making of salvage therapy in relapsed AML with t(8;21) translocation.