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[Pharmacogenomics in leukemia treatment].

Motohiro Kato1

  • 1Department of Pediatrics, The University of Tokyo.

[Rinsho Ketsueki] the Japanese Journal of Clinical Hematology
|July 6, 2025
PubMed
Summary

Germline genetics, particularly the NUDT15 polymorphism, impact leukemia treatment. Analyzing NUDT15 variants before treatment can personalize 6-mercaptopurine dosing and reduce adverse effects.

Area of Science:

  • Oncology
  • Pharmacogenetics
  • Molecular Genetics

Background:

  • Genomic technologies advance leukemia treatment outcomes.
  • Germline genetics influence drug sensitivity and adverse event risk.
  • Personalized medicine is increasingly important in cancer therapy.

Purpose of the Study:

  • To highlight the role of the NUDT15 polymorphism in 6-mercaptopurine sensitivity.
  • To emphasize the clinical utility of pre-treatment NUDT15 genotyping.
  • To discuss the impact of genetic background on leukemia treatment complications.

Main Methods:

  • Review of recent molecular genetic and pharmacogenetic studies.
  • Analysis of NUDT15 polymorphism prevalence and function.
  • Evaluation of NUDT15's impact on 6-mercaptopurine therapy outcomes.
Keywords:
6-mercaptopurineNUDT15Secondary malignancySingle nucleotide polymorphism

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Main Results:

  • The NUDT15 polymorphism significantly affects 6-mercaptopurine sensitivity.
  • A low-activity NUDT15 variant, common in Asians, increases bone marrow suppression risk.
  • Pre-treatment NUDT15 analysis aids in dose adjustment and toxicity mitigation.

Conclusions:

  • Pharmacogenetic insights, especially NUDT15 genotyping, optimize leukemia treatment.
  • Personalized therapeutic strategies minimize complications and maximize efficacy.
  • Understanding germline genetics improves leukemia patient care and outcomes.