在B细胞急性淋巴细胞白血病中鉴定出一种新型TOP2B::AFF2融合基因。
Identification of a novel TOP2B::AFF2 fusion gene in B-cell acute lymphoblastic leukemia.
作者信息
Liu Tao, Wang Yang, An Xi-Zhou, Liu Jiaqi, Wu Yuqin, Xiang Yan, Zhang Yong-Jie, Huang Lan, Li Jia-Cheng, Li Yu-Zhuo-Pu, Yu Jie
机构信息
Department of Hematology and Oncology, National Clinical Research Center for Child Health and Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, Chongqing Key Laboratory of Pediatric Metabolism and Inflammatory Diseases, Children's Hospital of Chongqing Medical University, No 136 Zhongshan 2 road, YuZhong district, Chongqing, 400014, China.
Department of Hematology, Binzhou Medical University Hospital, Binzhou, Shandong, China.
出版信息
Sci Rep. 2025 Jan 25;15(1):3280. doi: 10.1038/s41598-025-86865-4.
Genetic alterations play a pivotal role in leukemic clonal transformation, significantly influencing disease pathogenesis and clinical outcomes. Here, we report a novel fusion gene and investigate its pathogenic role in acute lymphoblastic leukemia (ALL). We engineer a transposon transfection system expressing the TOP2B::AFF2 transcript and introduce it into Ba/F3 cells. Functional studies, including proliferation, cell cycle, and apoptosis assays, were conducted to assess the fusion gene's impact. In vitro assays reveal that the TOP2B::AFF2 fusion significantly enhances Ba/F3 cell proliferation and G1/S phase transition while suppressing differentiation and apoptosis. This study identifies TOP2B::AFF2 as a potential oncogenic driver. However, further validation through in vivo studies are warranted to fully elucidate the fusion gene's role in leukemogenesis.
基因改变在白血病克隆转化中起关键作用，显著影响疾病发病机制和临床结果。在此，我们报告一种新型融合基因，并研究其在急性淋巴细胞白血病（ALL）中的致病作用。我们构建了一个表达TOP2B::AFF2转录本的转座子转染系统，并将其导入Ba/F3细胞。进行了包括增殖、细胞周期和凋亡检测在内的功能研究，以评估融合基因的影响。体外实验表明，TOP2B::AFF2融合显著增强Ba/F3细胞增殖和G1/S期转换，同时抑制分化和凋亡。本研究确定TOP2B::AFF2为潜在的致癌驱动因素。然而，需要通过体内研究进一步验证，以充分阐明融合基因在白血病发生中的作用。
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