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

• Published in: International journal of hematology Vol. 119; no. 2; pp. 205 - 209
• Main Authors: Kato, Kana, Takagi, Shinsuke, Takano, Hirofumi, Tsunoda, Shinichi, Watanabe, Otoya, Yamaguchi, Kyosuke, Kageyama, Kosei, Kaji, Daisuke, Taya, Yuki, Nishida, Aya, Ishiwata, Kazuya, Yamamoto, Hisashi, Yamamoto, Go, Asano-Mori, Yuki, Koike, Yukako, Makino, Shigeyoshi, Wake, Atsushi, Taniguchi, Shuichi, Uchida, Naoyuki
• Format: Journal Article
• Language: English
• Published: Singapore Springer Nature Singapore 01.02.2024; Springer Nature B.V
• Subjects: Abl1 gene; Acute lymphoblastic leukemia; Allografts; Binding sites; Bone marrow; Case Report; Case reports; Chemotherapy; Chromosomes; Fusion Proteins, bcr-abl - genetics; Gene deletion; Hematology; Hematopoietic stem cells; Hospitals; Humans; Induction therapy; Kinases; Leukemia; Lymphatic leukemia; Medicine; Medicine & Public Health; Mutation; Oncology; Philadelphia Chromosome; Point Mutation; Precursor Cell Lymphoblastic Leukemia-Lymphoma - genetics; Precursors; Protein Kinase Inhibitors - therapeutic use; Stem cell transplantation; Transplantation; Tyrosine; mutation; Partial deletion type mutation; Philadelphia chromosome-positive B cell precursor acute lymphoblastic leukemia; Truncated; Truncated ABL1 mutation
• ISSN: 0925-5710; 1865-3774
• DOI: 10.1007/s12185-023-03691-y

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.