Su Zhan, Du Yahui, Yuan Chenglu, Zhao Xianzhi, Zhang Xiaoshan, Cui Hongqing, Yue Ting, Zhao Hongguo, Wang Wei
Department of Hematology, The Affiliated Hospital of Qingdao University, Qingdao, 266000, China.
Department of Hematology, Qilu Hospital (Qingdao), Cheeloo College of Medicine, Shandong University, Qingdao, 266035, China.
Virchows Arch. 2024 Aug 26. doi: 10.1007/s00428-024-03853-1.
Fusion genes generally serve as driver mutations in leukemia. The rearrangement of the RARA gene located on chromosome 17q21 is a molecular pathological feature of acute promyelocytic leukemia (APL). A series of RARA-involved fusion genes have been identified in variant APL, including one carrying the t(11;17)(q13;q21) translocation, resulting in the NUMA1::RARA fusion gene. Here, we present an interesting case where blasts carry the t(11;17)(q13;q21), but the cell morphology does not exhibit signs of promyelocytic differentiation. Transcriptome sequencing identified a novel fusion gene, RAB6A::TOP2A, with a frameshift mutation in the reading frame. The patient did not respond to all-trans retinoic acid (ATRA) treatment.
融合基因通常在白血病中作为驱动突变。位于17q21染色体上的RARA基因重排是急性早幼粒细胞白血病（APL）的分子病理特征。在变异型APL中已鉴定出一系列涉及RARA的融合基因，包括一种携带t(11;17)(q13;q21)易位的基因，导致NUMA1::RARA融合基因。在此，我们展示了一个有趣的病例，其中原始细胞携带t(11;17)(q13;q21)，但细胞形态未表现出早幼粒细胞分化的迹象。转录组测序鉴定出一个新的融合基因RAB6A::TOP2A，其阅读框中存在移码突变。该患者对全反式维甲酸（ATRA）治疗无反应。
