A Case Report of a Truncated ABL1 Mutation in 2 Cases with Philadelphia Chromosome-positive B Cell Precursor Acute Lymphoblastic Leukemia

Overview

Journal Int J Hematol

Specialty Hematology

Date 2024 Jan 18

PMID 38236369

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

Affiliations

Soon will be listed here.

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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