急性早幼粒细胞白血病相关融合基因的研究进展

Research Progress of Acute Promyelocytic Leukemia-Related Fusion Gene

急性早幼粒细胞白血病(APL)的特征性标志为染色体t(15;17)(q22;q21)易位,形成早幼粒细胞白血病蛋白(PML)-视黄酸受体α(RARα)融合基因。PML-RARα融合基因在APL的发生、发展、诊断和治疗中发挥重要作用。不典型APL患者因缺乏PML-RARα融合基因,故为RARα与其他伙伴基因融合形成X-RARα融合基因,主要包括早幼粒细胞白血病锌指蛋白-RARα、核仁磷酸蛋白-RARα、核有丝分裂器蛋白-RARα和信号转导及转录激活因子5B-RARα等。未来,深入研究APL相关融合基因不仅有助于明确其发病机制,还有望为APL的治疗提供新手段。

The characteristic marker of acute promyelocytic leukemia (APL) is the translocation of chromosomal t(15;17)(q22;q12), which forms the fusion gene of promyelocytic leukemia protein(PML)-retinoic acid receptor α(RARα).PML-RARα fusion gene plays an important role in the occurrence,development,diagnosis and treatment of APL.Atypical APL patients lack PML-RARα fusion gene,so they fuse RARα with other partner genes to form X-RARα fusion gene,which mainly includes promyelocytic leukemia zinc finger protein-RARα,nucleophosmin- RARα,nuclear mitotic apparatus protein-RARα,signal transducer and activator of transcription 5B-RARα,etc.In the future,in-depth study of APL-related fusion genes will not only help to clarify its pathogenesis,but also provide a new means for the treatment of APL hopefully.