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

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 <i>TOR1AIP2::ETV6</i> fusion transcript with a translocation of <i>t</i>(1;12)(q25;p13) in AML progressed from myelodysplastic syndrome (MDS) combined with an <i>FLT3</i>-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.

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Publication Details

Journal
Frontiers in Oncology
Published
2024-12-10
DOI
https://doi.org/10.3389/fonc.2024.1466590
Primary Topic
Acute Myeloid Leukemia Research
Type
article
Field-Weighted Citation Impact
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article

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

Kaili Gu, Lingling Wang, Heng Chen, Ping Chen et al.
Frontiers in Oncology
Acute Myeloid Leukemia Research
article

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

Kaili Gu, Lingling Wang, Heng Chen, Ping Chen, Ge Li, Qingling Yu, Ruiyi Zhang, Chao Sun, Hongli Sun, Guanqun Yang, Jun Xia, Man Wang
article en

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 <i>TOR1AIP2::ETV6</i> fusion transcript with a translocation of <i>t</i>(1;12)(q25;p13) in AML progressed from myelodysplastic syndrome (MDS) combined with an <i>FLT3</i>-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.

Frontiers in OncologyVol. 14
Nantong University (CN), Soochow University (CN), Changshu No.1 People's Hospital (CN), First Affiliated Hospital of Soochow University (CN), Wuxi People's Hospital (CN), Nanjing Medical University (CN)
Good health and well-being
Openalex Percentile: Top 58%
Acute Myeloid Leukemia Research
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