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经典型急性早幼粒细胞白血病(APL)患者常伴有特征性t(15；17)(q22；q21)易位，形成PML/RARA融合基因。变异型APL患者临床少见，其相关融合基因繁多，包括ZBTB16/RARA、NPM/RARA、NuMA/RARA、STAT5b/RARA、PRKAR1A/RARA、FIP1L1/RARA、BCOR/RARA、OBFC2A/RARA、TBLR1/RARA、GTF2I/RARA、IRF2BP2/RARA、FNDC3B/RARA、STAT3/RARA、NUP98/RARG、PML/RARG、CPSF6/RARG、RARG/CPSF6、NPM1/RARG/NPM1、TBL1XR1/RARB融合基因等。上述融合基因的形成均涉及维甲酸受体(RAR)A、RARG、RARB。不同变异型APL相关融合基因具有不同分子学特征，因此携带不同APL相关融合基因患者的治疗效果和临床转归存在个体化差异。笔者就变异型APL的发病机制，变异型APL相关融合基因的结构、功能、致病机制，以及患者治疗反应等方面的新进展进行阐述。“,”Patients with classical acute promyelocytic leukemia (APL) are characterized by t(15; 17)(q22; q21), which results in the fusion of PML/RARA. Variant APL patients are rare clinically, and there are many related fusion genes, including ZBTB16/RARA, NPM/RARA, NuMA/RARA, STAT5b/RARA, PRKAR1A/RARA, FIP1L1/RARA, BCOR/RARA, OBFC2A/RARA, TBLR1/RARA, GTF2I/RARA, IRF2BP2/RARA, FNDC3B/RARA, STAT3/RARA, NUP98/RARG, PML/RARG, CPSF6/RARG, RARG/CPSF6, NPM1/RARG/NPM1, TBL1XR1/RARB fusion genes, etc.. Those variant fusion genes are involving retinoic acid receptor (RAR) A, RARB and RARG. Different variant APL related fusion genes possess respective molecular characteristics, leading to various efficacy and clinical outcomes of patients. This article summarizes the breakthroughs in the pathogenesis of variant APL, as well as the structure, function, pathogenic mechanism of variant APL related fusion genes and patients response to treatment.