摘要(1;19)(q23;p13)易位导致E2A-PBX1基因融合是儿科B系ALL中最常见的易位之一.E2A-PBX1基因的融合形成特异性转录因子,激活前B细胞受体,使前B细胞具有自我更新的性质.此过程作为白血病的启动因素,同时合并二次突变,共同激活遗传损伤激活激酶驱动的信号通路,导致前体B细胞克隆性异常增殖,进而导致白血病的发生.该文总结复发患者中与E2A-PBX1相关的二次突变基因及激酶,对今后复发患者靶向治疗提供帮助.

abstractsThe translocation of(1;19)(q23;p13)leading to E2A-PBX1 gene fusion,is one of the most common translocations in pediatric B-ALL. Fusion of the E2A-PBX1 gene forms a specific transcription factor activating the pre-B cell receptor,allowing the pre-B cells to self-renew. This process acts as a leukemia initiation factor. Simultaneously,it can combine a second mutation to activate the genetic damage activating kinase driven signaling pathway. Thereby clonality of precursor B cells proliferated abnormally,which will lead to the occur-rence of leukemia. This article summarizes the secondary mutations and kinases associated with E2A-PBX1 posi-tive recurrent patients,and provides help for targeted therapy in recurrent patients.