病例报告：阿扎胞苷成功治疗类似急性早幼粒细胞白血病的NUP98::RARG急性髓系白血病。

Wei Zhichen, Shao Linlin, Xu Shuqian, Zhang Xiaolin, Wang Lin, Qin Ping, Song Qiang, Hou Ming, Shi Yan

Department of Hematology, Qilu Hospital of Shandong University, Jinan, China.

Shandong Provincial Key Laboratory of Immunohematology, Qilu Hospital, Cheeloo College of Medicine, Shandong University, Jinan, China.

Front Oncol. 2024 Sep 4;14:1460557. doi: 10.3389/fonc.2024.1460557. eCollection 2024.

We report a case of acute myeloid leukemia (AML) with retinoic acid receptor gamma (RARG) rearrangement, exhibiting clinical, morphological, and immunophenotypic features similar to classic acute promyelocytic leukemia (APL). RNA sequencing analysis of the patient's bone marrow samples revealed the presence of nucleoporin 98 (NUP98)-RARG caused by translocation. AML with RARG rearrangement is insensitive to all-trans retinoic acid (ATRA) and arsenic trioxide. The patient received azacitidine therapy after failing ATRA and standard 3 + 7 therapy (idarubicin and cytarabine) and achieved complete remission. Conclusively, this acute myeloid leukemia subtype may benefit from azacitidine.

我们报告了一例伴有维甲酸受体γ（RARG）重排的急性髓系白血病（AML），其临床、形态学和免疫表型特征与经典急性早幼粒细胞白血病（APL）相似。对患者骨髓样本进行的RNA测序分析显示存在由易位导致的核孔蛋白98（NUP98）-RARG。伴有RARG重排的AML对全反式维甲酸（ATRA）和三氧化二砷不敏感。该患者在ATRA和标准3+7方案（去甲氧柔红霉素和阿糖胞苷）治疗失败后接受了阿扎胞苷治疗并实现了完全缓解。总之，这种急性髓系白血病亚型可能从阿扎胞苷治疗中获益。