The study of thiopurine methyltransferase (TPMT) variant from laboratory service experience for 18 years at Siriraj hospital

Authors

  • kochpinchon chansing Faculty of Medicine Siriraj Hospital, Mahidol University
  • Preeyanun Siraprapapat Faculty of Medicine Siriraj Hospital, Mahidol University
  • Jassada Buaboonnam Faculty of Medicine Siriraj Hospital, Mahidol University

DOI:

https://doi.org/10.14456/jmu.2024.7

Keywords:

Thiopurine methyltransferase, Thiopurine, AS-PCR, PCR-RFLP

Abstract

          Thiopurine S-methyltransferase (TPMT) is a cytosolic enzyme involving in degradation of thiopurine agents including 6-mercaptopurine (6-MP), 6-thioguanine (6-TG). Both 6-MP and 6-TG are widely used for treatment of several hematologic malignancies. However, Patients harboring polymorphism of TPMT resulting in decreased enzyme activity may develop severe myelosuppression after being treated with standard doses of such agents.

          Hematology and Oncology laboratory service evaluated the use of allele-specific polymerase chain reaction (AS-PCR) for TPMT*2, and PCR-restriction fragment length polymorphism (PCR-RFLP) for TPMT*3A, *3B,*3C, and *6 detections. There were 1,087 samples of Thai patients for 18 years of laboratory service, from 2004 to 2021. The percentage of genotype TPMT*1/*1, TPMT*3A/*1 and TPMT*3C/*1 were 93.84, 0.09 and 6.07 respectively. The percentage of TPMT*3A and *3C were 0.05 and 3.04 respectively, while the TPMT*1 allele was 96.91.

          In this study, TPMT*3C is the most prevalent mutant allele in Thai populations and higher than that has been reported in other Asian populations. Identification of individual TPMT genotype would aid at optimizing an initial thiopurine dose for individuals to minimize risk of toxicities and succeed in treatment.

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Published

2024-04-22

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Research Articles