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

Int J Hematol. 2024 Feb;119(2):205-209. doi: 10.1007/s12185-023-03691-y. Epub 2024 Jan 18.ABSTRACTAcquired 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.PMID:38236369 | DOI:10.1007/s12185-023-03691-y

Source: International Journal of Hematology - January 18, 2024 Category: Hematology 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 Source Type: research