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。
The 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 occurrence of leukemia.This article summarizes the secondary mutations and kinases associated with E2A-PBX1 positive recurrent patients, and provides help for targeted therapy in recurrent patients.
作者
张琳琳(综述)
徐刚(审校)
Zhang Linlin, Xu Gang(Department of Hematology, Shengjing Hospital of China Medical University, Shenyang 110004, China)
出处
《国际儿科学杂志》
2018年第10期776-778,782,共4页
International Journal of Pediatrics
