摘要目的 探讨KIT和其他伴随基因突变对核心结合因子相关急性髓性白血病(CBF-AML)预后的影响.方法 回顾性分析2014年1月至2018年2月期间就诊于河北燕达陆道培医院的104例初诊CBF-AML患者,使用高通量基因测序检测58种基因突变.分析其中KIT突变阳性的CBF-AML(KIT+CBF-AML)患者临床特征及其他伴随基因突变对预后的影响.结果 在104例CBF-AML患者中共检测到56例(53.85％)KIT突变阳性,其中D816突变最常见(32例),其次为N822突变(17例).KIT+CBF-AML患者初诊时骨髓原始细胞比例更高,更易发生性染色体丢失.随访52例KIT+CBF-AML患者,异基因造血干细胞移植(allo-HSCT)组总生存(OS)率显著高于化疗组(88.9％比57.1％,x2=6.076,P＜0.05).伴FLT3突变的KIT+CBF-AML患者无事件生存(EFS)率和OS率均显著低于FLT3突变阴性组(EFS:40.0％比72.3％,x2=6.557,P＜0.05;OS:60.0％比87.2％,x2=8.305,P＜0.05);伴TET2突变的患者OS率低于TET2突变阴性组(50.0％比87.5％,x2=4.130,P＜0.05).结论 伴随基因突变(尤其FLT3和TET2突变)可增加KIT+CBF-AML患者的预后不良因素,allo-HSCT可改善这部分患者的预后.

abstractsObjective To study the impact of KIT and other concomitant gene mutations on the prognoses of patients with core-binding factor acute myeloid leukemia (CBF-AML).Methods A total of 104 newly diagnosed patients with CBF-AML in Hebei Yanda Lu Daopei Hospital from January 2014 to February 2018 were analyzed,and high-throughput gene sequencing for the detection of mutations among 58 genes was executed.Also,the clinical features of KIT mutation-positive CBF-AML (KIT+CBF-AML) patients and the effects of other concomitant gene mutations on the prognoses of patients were also analyzed.Results A total of 56 cases (53.85％) with KIT mutations were found in 104 CBF-AML patients.Among this,KIT D816 mutation was the most common (32 patients),followed by the N822 mutation (17 patients).Patients with KIT+CBF-AML have a higher proportion of bone marrow blasts at the time of diagnoses and are more likely to have sex chromosome loss.Among the 52 patients with KIT+CBF-AML who were followed up,the allogeneic hematopoietic stem cell transplantation (allo-HSCT) group had a higher overall survival rate (OS) than that of the chemotherapy group (88.9％ vs 57.1％,x2=6.076,P＜0.05).The event-free survival (EFS) and OS of patients with KIT+CBF-AML with FLT3 mutation were both significantly lower than those of the FLT3 mutation-negative group (EFS:40.0％ vs 72.3％,x2=6.557,P＜0.05;OS:60.0％ vs 87.2％,x2=8.305,P＜0.05).The OS of the patient with TET2 mutation was lower than that of the TET2 mutation-negative group (50.0％ vs 87.5％,x2=4.130,P＜0.05).Conclusion Patients with KIT+CBF-AML with concomitantgene mutations,especially FLT3 and TET2,have poor prognoses,which can be improved by allo-HSCT.