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

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发表日期：

2024年1月18日

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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

摘要

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.