Y M Yusoff, Z A Seman, S Z Anoar, S S M Said, N Azman, N R Kamaluddin, J Abdullah, S S M Yacob, E Esa
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Identification of novel BCR::ABL1 kinase domain mutation in patients with chronic myeloid leukaemia and imatinib resistance.
Introduction: The emergence of mutations in the BCR::ABL1 kinase domain (KD) impairs imatinib mesylate (IM) binding capacity, thus contributing to IM resistance. Identification of these mutations is important for treatment decisions and precision medicine in chronic myeloid leukaemia (CML) patients. Our study aims to determine the frequency of BCR::ABL1 KD mutations in CML patients with IM resistance.
Materials and methods: Twenty three CML patients (26.7%) showed to have BCR:ABL1 KD mutations with IM resistance.
Results: A total of 14 different types of mutations were identified which are Y253H, E255K, T267A, A287T, M290R, F3111, T3151, F317L, F359V, F3591, F359C, K357T, A399T, E459K and two novel mutations; M290R and K357T. We also discovered two silent mutations at codons 389 and 401.
Conclusion: Mutational analysis is recommended to identify patients at risk of disease progression. Therefore, early detection of such mutations may allow timely treatment intervention to prevent or overcome resistance.
期刊介绍：
The Malaysian Journal of Pathology is the official journal of the College of Pathologists, Academy of Medicine Malaysia. The primary purpose of The Journal is to publish the results of study and research in Pathology, especially those that have particular relevance to human disease occurring in Malaysia and other countries in this region. The term PATHOLOGY will be interpreted in its broadest sense to include Chemical Pathology, Cytology, Experimental Pathology, Forensic Pathology, Haematology, Histopathology, Immunology, Medical Microbiology and Parasitology. The Journal aims to bring under one cover publications of regional interest embracing the various sub-specialities of Pathology. It is expected that the articles published would be of value not only to pathologists, but also to medical practitioners in search of a scientific basis for the problems encountered in their practice, and to those with an interest in diseases which occur in the tropics.
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