Mutations in the BCR‑ABL1 kinase domain in patients with chronic myeloid leukaemia treated with TKIs or at diagnosis
- Jingjing Liu
- Haiping Yang
- Xiuwen Xu
- Shujuan Yi
- Li Meng
Affiliations: Department of Hematology, Tongji Hospital of Huazhong University of Science and Technology, Wuhan, Hubei 430030, P.R. China, Department of Hematology, First Affiliated Hospital of Henan University of Science and Technology, Luoyang, Henan 471000, P.R. China
- Published online on: May 20, 2020 https://doi.org/10.3892/ol.2020.11650
Copyright: © Liu
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The aim of the present study was to analyse the incidence of mutations in the BCR‑ABL1 kinase region in patients with newly diagnosed or treated chronic myeloid leukaemia (CML), and the association between mutations clinicopathological characteristics. Samples were collected for mutation analysis from patients who exhibited tyrosine kinase inhibitor resistance following treatment or were in the accelerated or blast phase at diagnosis. The mutations in the breakpoint cluster region (BCR)‑ABL proto‑oncogene 1 (ABL1) kinase domain were evaluated using conventional sequencing or ultra‑deep sequencing (UDS) of peripheral blood samples. Sanger sequencing and UDS of the cDNA region corresponding to the BCR‑ABL1 kinase domain was performed. χ2 test was used to assess the association of categorical variables between the mutated and non‑mutated groups. In addition, the Kaplan‑Meier method was applied to generate the survival curves. Sequencing detected 28 different mutations in 54 of the 175 (30.86%) patients with CML. A total of 14 (8.0%) patients presented with the T315I mutation, accounting for the largest proportion in the mutated group. Eight patients (4.6%) presented with more than one mutation, three (37.5%) of whom harboured T315I coexisting with other mutations, and for nine (5.1%) patients, the results differed between conventional sequencing and UDS, with the mutations being missed by conventional sequencing. The results form this study suggested that programing mutation analysis in patients with chronic myeloid leukaemia timely may guide the choice of TKIs.