Mutation Analysis of ABL1 Gene and its Relation to the Achievement of Major Molecular Response in Indonesian Chronic Myeloid Leukemia Patients

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Author(s): Reni Widyastuti, Ikhwan Rinaldi*, Melva Louisa, Riki Nova, SpFK Instiaty, Rizky Priambodo.

Journal Name: Current Pharmacogenomics and Personalized Medicine
Formerly Current Pharmacogenomics

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Background: Imatinib mesylate is the first tyrosine kinase inhibitor approved for chronic myeloid leukemia (CML) therapy. Imatinib is an effective drug. However, previous studies had shown that about 20-30% of patients eventually would develop resistance to imatinib. Approximately 40% of imatinib resistance is associated with BCR-ABL kinase domain mutation. One of the most common and serious variations accounts for imatinib response is T315I of ABL1 gene.

Objective: To examine the association of T315I mutation in the ABL1 gene and its relation to major molecular response (MMR) achievement in CML patients. This study also examined other mutations adjacent to T315I, i.e., F311I, F317L, and different possible variations in the ABL1 gene.

Methods: This was a cross-sectional study on Indonesian CML patients in chronic phase. We analyzed 120 blood samples from patients in chronic phase who have received imatinib mesylate (IM) for ≥12 months.

Results: There are no T315I, F311I, and F317L mutations found in this study. However, we found another variation, which were 36 substitutions from A to G in position 163816 of ABL1 gene (according to NG_012034.1).

Conclusions: We found no T315I, F311I, and F317L mutations in this study. Our findings suggest that there might be other factors that influenced the MMR achievement in our patients. However, there are 36 substitutions from A to G in position 163.816 (according to NG_012034.1) that needed further examination to explore the significance of this mutation in clinical practice

Keywords: imatinib, BCR-ABL, T315I, chronic myeloid leukemia, F311I, F317L

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(E-pub Ahead of Print)
DOI: 10.2174/1875692117666190925115852