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Published in: International Journal of Hematology 5/2024

05-03-2024 | Acute Myeloid Leukemia | Original Article

Characteristics and literature review of ETV6::ABL1 fusion gene-positive acute myeloid leukemia

Authors: Song Xue, Hui-Peng Sun, Xiao-Bing Huang, Xue Chen, Tong Wang, Wei Ma, Yao Tian, Zhi-Lan Pan, Li-Hong Li, Lu Zhang, Hong-Xing Liu, Xing-Yu Cao

Published in: International Journal of Hematology | Issue 5/2024

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Abstract

Objective

To describe the features of ETV6::ABL1 AML as well as the clinical treatment and outcomes.

Methods

Clinical data were collected from three patients diagnosed with ETV6::ABL1 AML at Hebei Yanda Lu Daopei Hospital and Beijing Lu Daopei Hospital. Their clinical and laboratory features were analyzed, and the treatment process and outcomes were described. Ten reported cases of ETV6::ABL1 AML from the literature were also included for analysis.

Results

The median age of the patients was 34 years, and 2 patients were male. No patient had a history of blood disorders before diagnosis. After relapse, they were referred to our hospital, where the ETV6::ABL1 gene was detected. Unfortunately, Patient 1 died rapidly after leukemia relapse due to severe infection. Patients 2 and 3 received salvage therapy with a dasatinib-containing regimen, followed by allo-HSCT, and are currently alive and disease-free.

Conclusion

ETV6::ABL1 is a rare but recurrent genetic aberration in AML, and the combined use of fluorescence in situ hybridization and PCR can better identify this fusion gene. Patients carrying ETV6::ABL1 have a high relapse rate and a poor prognosis. TKIs are a reasonable treatment option for this group, and allo-HSCT may be curative.
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Metadata
Title
Characteristics and literature review of ETV6::ABL1 fusion gene-positive acute myeloid leukemia
Authors
Song Xue
Hui-Peng Sun
Xiao-Bing Huang
Xue Chen
Tong Wang
Wei Ma
Yao Tian
Zhi-Lan Pan
Li-Hong Li
Lu Zhang
Hong-Xing Liu
Xing-Yu Cao
Publication date
05-03-2024
Publisher
Springer Nature Singapore
Published in
International Journal of Hematology / Issue 5/2024
Print ISSN: 0925-5710
Electronic ISSN: 1865-3774
DOI
https://doi.org/10.1007/s12185-024-03729-9

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