Send Orders for Reprints to reprints@benthamscience.net Current Pharmacogenomics and Personalized Medicine, 2019, 17, 1-7 1 RESEARCH ARTICLE 1875-6921/19 $58.00+.00 © 2019 Bentham Science Publishers Mutation Analysis of ABL1 Gene and its Relation to the Achievement of Major Molecular Response in Indonesian Chronic Myeloid Leuke- mia Patients Reni Widyastuti 1 , Melva Louisa 1 , Ikhwan Rinaldi 2,* , Riki Nova 1 , Instiaty 1 and Rizky Priambodo 3 1 Department of Pharmacology and Therapeutics, Faculty of Medicine, Universitas Indonesia, Jakarta, Indo- nesia; 2 Department of Internal Medicine, Cipto Mangunkusumo Hospital/Faculty of Medicine, Universitas Indonesia, Jakarta, Indonesia; 3 Human Genetic Research Center, Indonesian Medical Education, and Re- search Institute, Jakarta, Indonesia A R T I C L E H I S T O R Y Received: May 20, 2019 Revised: August 04, 2019 Accepted: August 09, 2019 DOI: 10.2174/1875692117666190925115852 Abstract: Background: Imatinib mesylate is the first tyrosine kinase inhibitor approved for chronic myeloid leukemia (CML) therapy. Imatinib is an effective drug. However, previous studies have shown that about 20-30% of patients eventually would develop re- sistance to imatinib. Approximately 40% of imatinib resistance is associated with BCR- ABL kinase domain mutation. One of the most common and serious variations account for imatinib response is T315I of ABL1 gene. Objective: The study aimed to examine the association of T315I mutation with 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 dif- ferent 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 were no T315I, F311I, and F317L mutations found in this study. However, we found another variation, which was 36 substitutions from A to G at position 163816 of ABL1 gene (according to NG_012034.1). Conclusion: 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 study patients. However, there were 36 substitutions from A to G at position 163.816 (ac- cording 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. 1. INTRODUCTION Chronic Myeloid Leukemia (CML) is a neoplasm of myeloproliferative type. It is characterized by a recip- rocal translocation between the long arms of chromo- somes 9 (ch9) and 22 (ch22) [1, 2]. Chronic myeloid *Address correspondence to this author at the Department of Inter- nal Medicine, Faculty of Medicine, University of Indonesia, Ja- karta, Indonesia; Tel: (+62)81-1177997/ (+62) 81-11001758; E-mails: ikhwanrinaldi@yahoo.com, ikhwanrinaldi@gmail.com leukemia affects about 1-2 people per 100 000 adults per year. This number increases by age. Since the ap- proval of imatinib in early 2000, the mortality rate of CML has been reduced from 10-20% to 1-2% [1-3]. However, the prevalence of CML is predicted to reach 180 000 cases by 2030 [2]. Data showed that the incidence of CML in the Asian population is lower compared to that in Cauca- sian, but it affects young populations. The frequency in Korea is 0.8 per 100 000 populations with a median