A case of recurrent pancytopenia in a patient with acute promyelocytic leukemia on maintenance chemotherapy and concomitant methyltetrahydrofolate reductase and thiopurine S-methyltransferase mutation - review of literature

J Oncol Pharm Pract. 2016 Jun;22(3):548-51. doi: 10.1177/1078155215577235. Epub 2015 Mar 18.

Abstract

Pharmacogenetics is a study of how genetic variation of an individual affects the drug response. We report a case of recurrent pancytopenia resulting from maintenance chemotherapy in a patient with acute promyelocytic leukemia and two pharmacogenetic mutations, namely, methylene tetrahydrofolate reductase C677T homozygous mutation and thiopurine methyltransferase mutation.

Keywords: Acute promyelocytic leukemia; homozygous MTHFR C677T mutation; methylene tetrahydrofolate reductase; pancytopenia; thiopurine S-methyltransferase; thiopurine methyltransferase.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Humans
  • Leukemia, Promyelocytic, Acute / drug therapy
  • Leukemia, Promyelocytic, Acute / genetics*
  • Maintenance Chemotherapy / methods*
  • Male
  • Methylenetetrahydrofolate Reductase (NADPH2) / genetics*
  • Methyltransferases / genetics*
  • Middle Aged
  • Mutation / genetics*
  • Pancytopenia / drug therapy
  • Pancytopenia / genetics*
  • Recurrence

Substances

  • Methylenetetrahydrofolate Reductase (NADPH2)
  • Methyltransferases
  • thiopurine methyltransferase