Identification of a novel TOP2B::AFF2 fusion gene in B-cell acute lymphoblastic leukemia
Abstract 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 transfecti...
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Nature Portfolio
2025-01-01
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| Series: | Scientific Reports |
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| Online Access: | https://doi.org/10.1038/s41598-025-86865-4 |
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| author | Tao Liu Yang Wang Xi-Zhou An Jiaqi Liu Yuqin Wu Yan Xiang Yong-Jie Zhang Lan Huang Jia-Cheng Li Yu-Zhuo-Pu Li Jie Yu |
| author_facet | Tao Liu Yang Wang Xi-Zhou An Jiaqi Liu Yuqin Wu Yan Xiang Yong-Jie Zhang Lan Huang Jia-Cheng Li Yu-Zhuo-Pu Li Jie Yu |
| author_sort | Tao Liu |
| collection | DOAJ |
| description | Abstract 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. |
| format | Article |
| id | doaj-art-e21bb52bcaf1460f971d33145ad2b8da |
| institution | Kabale University |
| issn | 2045-2322 |
| language | English |
| publishDate | 2025-01-01 |
| publisher | Nature Portfolio |
| record_format | Article |
| series | Scientific Reports |
| spelling | doaj-art-e21bb52bcaf1460f971d33145ad2b8da2025-01-26T12:33:48ZengNature PortfolioScientific Reports2045-23222025-01-011511910.1038/s41598-025-86865-4Identification of a novel TOP2B::AFF2 fusion gene in B-cell acute lymphoblastic leukemiaTao Liu0Yang Wang1Xi-Zhou An2Jiaqi Liu3Yuqin Wu4Yan Xiang5Yong-Jie Zhang6Lan Huang7Jia-Cheng Li8Yu-Zhuo-Pu Li9Jie Yu10Department 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 UniversityDepartment 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 UniversityDepartment 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 UniversityShanghai Cinopath Medical Testing Co LtdLaboratory Medicine Department, Children’s Hospital of Chongqing Medical UniversityDepartment 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 UniversityDepartment 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 UniversityDepartment 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 UniversityDepartment 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 UniversityDepartment 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 UniversityDepartment 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 UniversityAbstract 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.https://doi.org/10.1038/s41598-025-86865-4Acute lymphoblastic leukemiaDifferentiationFusion geneTOP2B |
| spellingShingle | Tao Liu Yang Wang Xi-Zhou An Jiaqi Liu Yuqin Wu Yan Xiang Yong-Jie Zhang Lan Huang Jia-Cheng Li Yu-Zhuo-Pu Li Jie Yu Identification of a novel TOP2B::AFF2 fusion gene in B-cell acute lymphoblastic leukemia Scientific Reports Acute lymphoblastic leukemia Differentiation Fusion gene TOP2B |
| title | Identification of a novel TOP2B::AFF2 fusion gene in B-cell acute lymphoblastic leukemia |
| title_full | Identification of a novel TOP2B::AFF2 fusion gene in B-cell acute lymphoblastic leukemia |
| title_fullStr | Identification of a novel TOP2B::AFF2 fusion gene in B-cell acute lymphoblastic leukemia |
| title_full_unstemmed | Identification of a novel TOP2B::AFF2 fusion gene in B-cell acute lymphoblastic leukemia |
| title_short | Identification of a novel TOP2B::AFF2 fusion gene in B-cell acute lymphoblastic leukemia |
| title_sort | identification of a novel top2b aff2 fusion gene in b cell acute lymphoblastic leukemia |
| topic | Acute lymphoblastic leukemia Differentiation Fusion gene TOP2B |
| url | https://doi.org/10.1038/s41598-025-86865-4 |
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