Liu Yiping, Xu Fang, Hu Hong, Wen Jingjing, Su Jing, Zhou Qiaolin, Qu Wen
Department of Hematology, Mianyang Central Hospital, Mianyang 621000, Sichuan, People's Republic of China.
Onco Targets Ther. 2019 Aug 2;12:6157-6163. doi: 10.2147/OTT.S217622. eCollection 2019.
Acute promyelocytic leukemia (APL) is commonly characterized by the fusion of retinoic acid receptor alpha (RARA) with promyelocytic leukemia (PML). Most APL patients acquire long-term survival after treatment with all-trans retinoic acid (ATRA) or arsenic agents-based chemotherapy.
A rare case of APL was reported after IRF2BP2-RARA was detected in the relapsed process using next-generation RNA-sequencing analysis. In addition, the mutation of NRAS was also detected. ATRA and arsenic trioxide combined with daunorubicin were used during induction treatment. The patient acquired complete remission but relapsed in 12 months. The patient was resistant to all other chemotherapies and refused any further therapy. The literature review indicated that allogeneic hematopoietic stem cell transplantation might be a therapeutic method to treat APL with IRF2BP2-RARA fusion.
Atypical APL should be considered even if the patients present with normal chromosomal karyotype and no classic PML-RARA fusions, but classical clinical features and bone marrow cell morphology. We reported a case of APL with IRF2BP2-RARA fusion was shown to harbor the NRAS mutation at relapse.
急性早幼粒细胞白血病（APL）通常特征为维甲酸受体α（RARA）与早幼粒细胞白血病（PML）融合。大多数APL患者经全反式维甲酸（ATRA）或基于砷剂的化疗后可获得长期生存。
使用下一代RNA测序分析在复发过程中检测到IRF2BP2-RARA后，报告了1例罕见的APL病例。此外，还检测到NRAS突变。诱导治疗期间使用ATRA、三氧化二砷联合柔红霉素。患者获得完全缓解，但在12个月后复发。患者对所有其他化疗耐药并拒绝任何进一步治疗。文献综述表明，异基因造血干细胞移植可能是治疗伴有IRF2BP2-RARA融合的APL的一种治疗方法。
即使患者染色体核型正常且无经典的PML-RARA融合，但具有典型临床特征和骨髓细胞形态，也应考虑非典型APL。我们报告1例伴有IRF2BP2-RARA融合的APL病例，复发时显示存在NRAS突变。
