Acute promyelocytic leukemia (APL) is a specific subtype of acute myeloid leukemia that is distinguished by the chromosomal translocation t(15;17)(q24;q21), which leads to the fusion of the promyelocytic leukemia (PML) gene with the retinoic acid receptor alpha (RARA). Recently, we identified a novel fusion gene in APL, RARA::ankyrin repeat domain 34C (ANKRD34C), identified its functions by morphological, cytogenetic, molecular biological and multiplex fluorescence in situ hybridization analyses, and demonstrated the potential therapeutic effect clinically and experimentally of all-trans retinoic acid (ATRA); the findings have important implications for the diagnosis and treatment of atypical APL.

急性早幼粒细胞白血病 (APL) 是急性粒细胞白血病的一种特殊亚型，其特征是染色体易位 t(15;17)(q24;q21)，导致早幼粒细胞白血病 (PML) 基因与视黄酸融合受体α（RARA）。最近，我们在APL中发现了一个新的融合基因RARA::锚蛋白重复结构域34C（ANKRD34C），通过形态学、细胞遗传学、分子生物学和多重荧光原位杂交分析鉴定了其功能，并在临床和实验上证明了其潜在的治疗效果。全反式视黄酸（ATRA）；该研究结果对非典型 APL 的诊断和治疗具有重要意义。