Influence of folate pathway polymorphisms on high-dose methotrexate-related toxicity and survival in childhood acute lymphoblastic leukemia

Leuk Lymphoma. 2012 Jun;53(6):1096-104. doi: 10.3109/10428194.2011.639880. Epub 2012 Feb 3.

Abstract

The prediction of high-dose methotrexate (HD-MTX) toxicity is a key issue in the individualization of treatment in childhood acute lymphoblastic leukemia (ALL). Our aim was to evaluate the influence of MTX pathway polymorphisms on HD-MTX treatment outcome in children with ALL. In total, 167 children with ALL were genotyped for methylenetetrahydrofolate dehydrogenase (MTHFD1) 1958G > A, methylenetetrahydrofolate reductase (MTHFR) 677C > T and 1298A > C and thymidylate synthase (TYMS) 2R > 3R polymorphisms. The MTHFD1 1958A allele significantly reduced the odds of hepatotoxicity (adjusted p = 0.009), while the TYMS 3R allele significantly reduced the odds of leukocytopenia and thrombocytopenia (adjusted p = 0.005 and adjusted p = 0.002, respectively). MTHFR polymorphisms did not influence HD-MTX-related toxicity, but a significant effect of MTHFR 677C > T-TYMS 2R > 3R and MTHFD1 1958G > A-MTHFR 677C > T interactions on HD-MTX-related toxicity was observed. None of the investigated polymorphisms influenced survival. Our study suggests an important role of polymorphisms and gene-gene interactions within the folate pathway in HD-MTX-related toxicity in childhood ALL.

Publication types

  • Evaluation Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Antineoplastic Agents / administration & dosage
  • Antineoplastic Agents / adverse effects
  • Child
  • Child, Preschool
  • Cohort Studies
  • Dose-Response Relationship, Drug
  • Female
  • Folic Acid / metabolism*
  • Genotype
  • Humans
  • Infant
  • Infant, Newborn
  • Male
  • Metabolic Networks and Pathways / genetics*
  • Methotrexate / administration & dosage*
  • Methotrexate / adverse effects*
  • Methylenetetrahydrofolate Dehydrogenase (NADP) / genetics
  • Methylenetetrahydrofolate Reductase (NADPH2) / genetics
  • Pharmacogenetics
  • Polymorphism, Genetic* / physiology
  • Precursor Cell Lymphoblastic Leukemia-Lymphoma / drug therapy*
  • Precursor Cell Lymphoblastic Leukemia-Lymphoma / genetics*
  • Precursor Cell Lymphoblastic Leukemia-Lymphoma / mortality*
  • Survival Analysis
  • Thymidylate Synthase / genetics

Substances

  • Antineoplastic Agents
  • Folic Acid
  • Methylenetetrahydrofolate Reductase (NADPH2)
  • Methylenetetrahydrofolate Dehydrogenase (NADP)
  • Thymidylate Synthase
  • Methotrexate