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CASE REPORT article

Front. Oncol.
Sec. Hematologic Malignancies
Volume 14 - 2024 | doi: 10.3389/fonc.2024.1466590

Case report: Identification of a novel TOR1AIP2::ETV6 transcript with FLT3-ITD mutation in acute myeloid leukemia progressed from myelodysplastic symdrome

Provisionally accepted
Jun Xia Jun Xia 1*Guanqun Yang Guanqun Yang 2*Qingling Yu Qingling Yu 3*Ruiyi Zhang Ruiyi Zhang 4Man Wang Man Wang 5Hongli Sun Hongli Sun 1*Heng Chen Heng Chen 1*Lingling Wang Lingling Wang 1*Ping Chen Ping Chen 4*Kai-Li Gu Kai-Li Gu 4*Chao Sun Chao Sun 1*
  • 1 Department of Hematology, Affiliated Wuxi People’s Hospital, Nanjing Medical University, Wuxi, People’s Republic of China, 214131, Wuxi, China
  • 2 Changshu Hospital Affiliated to Soochow University, Changshu NO.1 People’s Hospital, Changshu, 215500, Jiangsu Province, China, Changshu, China
  • 3 Department of Hematology, Affiliated Jianhu Hospital of Nantong University Xinglin College, Yancheng, 224700, China, Yancheng, China
  • 4 Suzhou Jsuniwell Medical Laboratory, Suzhou, P.R. China, Suzhou, Liaoning Province, China
  • 5 Jiangsu Institute of Hematology, National Clinical Research Center for Hematologic Diseases, NHC Key Laboratory of Thrombosis and Hemostasis, The First Affiliated Hospital of Soochow University, Suzhou, China

The final, formatted version of the article will be published soon.

    Acute myeloid leukemia (AML), mostly occurred in adults, is a challenging hematological malignancy. The occurrence and progression of AML are often accompanied with various gene fusions and/or mutations. Herein, we report the first case of TOR1AIP2::ETV6 fusion transcript with a translocation of t(1;12)(q25;p13) in AML progressed from myelodysplastic symdrome (MDS) combined with FLT3-ITD (internal tandem duplication) mutation. Further studies should put eyes on the biological functions of these novel chimeric products in disease onset and progression, as well as the potential as a monitoring marker in disease regression.

    Keywords: Acute Myeloid Leukemia, Gene fusions, TOR1AIP2::ETV6, FLT3-ITD, Mutation

    Received: 18 Jul 2024; Accepted: 06 Nov 2024.

    Copyright: © 2024 Xia, Yang, Yu, Zhang, Wang, Sun, Chen, Wang, Chen, Gu and Sun. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

    * Correspondence:
    Jun Xia, Department of Hematology, Affiliated Wuxi People’s Hospital, Nanjing Medical University, Wuxi, People’s Republic of China, 214131, Wuxi, China
    Guanqun Yang, Changshu Hospital Affiliated to Soochow University, Changshu NO.1 People’s Hospital, Changshu, 215500, Jiangsu Province, China, Changshu, China
    Qingling Yu, Department of Hematology, Affiliated Jianhu Hospital of Nantong University Xinglin College, Yancheng, 224700, China, Yancheng, China
    Hongli Sun, Department of Hematology, Affiliated Wuxi People’s Hospital, Nanjing Medical University, Wuxi, People’s Republic of China, 214131, Wuxi, China
    Heng Chen, Department of Hematology, Affiliated Wuxi People’s Hospital, Nanjing Medical University, Wuxi, People’s Republic of China, 214131, Wuxi, China
    Lingling Wang, Department of Hematology, Affiliated Wuxi People’s Hospital, Nanjing Medical University, Wuxi, People’s Republic of China, 214131, Wuxi, China
    Ping Chen, Suzhou Jsuniwell Medical Laboratory, Suzhou, P.R. China, Suzhou, Liaoning Province, China
    Kai-Li Gu, Suzhou Jsuniwell Medical Laboratory, Suzhou, P.R. China, Suzhou, Liaoning Province, China
    Chao Sun, Department of Hematology, Affiliated Wuxi People’s Hospital, Nanjing Medical University, Wuxi, People’s Republic of China, 214131, Wuxi, China

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