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

Jun Xia; Guanqun Yang; Qingling Yu; Ruiyi Zhang; Ge Li; Man Wang; Hongli Sun; Heng Chen; Lingling Wang; Ping Chen; Kai-Li Gu; Chao Sun

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 syndrome

Front Oncol. 2024 Dec 10:14:1466590. doi: 10.3389/fonc.2024.1466590. eCollection 2024.

Authors

Jun Xia^#¹, Guanqun Yang^#², Qingling Yu^#³, Ruiyi Zhang⁴, Ge Li⁴, Man Wang⁵, Hongli Sun¹, Heng Chen¹, Lingling Wang¹, Ping Chen⁴, Kai-Li Gu⁴, Chao Sun¹

Affiliations

¹ Department of Hematology, Affiliated Wuxi People's Hospital, Nanjing Medical University, Wuxi, China.
² Changshu Hospital Affiliated to Soochow University, Changshu NO.1 People's Hospital, Changshu, Jiangsu, China.
³ Department of Hematology, Affiliated Jianhu Hospital of Nantong University Xinglin College, Yancheng, China.
⁴ Department of Hematology, Affiliated Jianhu Hospital, Nantong University Xinglin College, Yancheng, Jiangsu, China.
⁵ Jiangsu Institute of Hematology, National Clinical Research Center for Hematologic Diseases, Key Laboratory of Thrombosis and Hemostasis, The First Affiliated Hospital of Soochow University, Suzhou, China.

^# Contributed equally.

Abstract

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

Keywords: FLT3-ITD; TOR1AIP2::ETV6; acute myeloid leukemia; gene fusions; mutation.

Publication types

Case Reports

Grants and funding

The author(s) declare that no financial support was received for the research, authorship, and/or publication of this article.