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International Journal of Hematology
Published in:

18-01-2024 | Imatinib | Case Report

A case report of a truncated ABL1 mutation in 2 cases with Philadelphia chromosome-positive B cell precursor acute lymphoblastic leukemia

Authors: Kana Kato, Shinsuke Takagi, Hirofumi Takano, Shinichi Tsunoda, Otoya Watanabe, Kyosuke Yamaguchi, Kosei Kageyama, Daisuke Kaji, Yuki Taya, Aya Nishida, Kazuya Ishiwata, Hisashi Yamamoto, Go Yamamoto, Yuki Asano-Mori, Yukako Koike, Shigeyoshi Makino, Atsushi Wake, Shuichi Taniguchi, Naoyuki Uchida

Published in: International Journal of Hematology | Issue 2/2024

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Abstract

Acquired point mutations in the ABL1 gene are widely recognized as a cause of Philadelphia chromosome-positive B cell precursor acute lymphoblastic leukemia (Ph+ B-ALL) that is resistant to tyrosine kinase inhibitors, whereas there are few reports about other types of the ABL1 mutation. Here, we report 2 cases of Ph+ B-ALL gaining a partial deletion type mutation of the ABL1 gene (Δ184-274 mutation), which resulted in truncation of the ABL1 molecule and loss of kinase activity. In both cases, the disease was refractory to multiple agents in the recurrent phase after allogeneic hematopoietic cell transplantation. This is a case report of a truncated ABL1 mutation in 2 patients with Ph+ B-ALL.
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Metadata
Title
A case report of a truncated ABL1 mutation in 2 cases with Philadelphia chromosome-positive B cell precursor acute lymphoblastic leukemia
Authors
Kana Kato
Shinsuke Takagi
Hirofumi Takano
Shinichi Tsunoda
Otoya Watanabe
Kyosuke Yamaguchi
Kosei Kageyama
Daisuke Kaji
Yuki Taya
Aya Nishida
Kazuya Ishiwata
Hisashi Yamamoto
Go Yamamoto
Yuki Asano-Mori
Yukako Koike
Shigeyoshi Makino
Atsushi Wake
Shuichi Taniguchi
Naoyuki Uchida
Publication date
18-01-2024
Publisher
Springer Nature Singapore
Published in
International Journal of Hematology / Issue 2/2024
Print ISSN: 0925-5710
Electronic ISSN: 1865-3774
DOI
https://doi.org/10.1007/s12185-023-03691-y

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