title: 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.
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.
authors: UCLA, Hematology-Oncology Division Clinic, Alhambra, USA ykeung@mednet.ucla.edu.
authors: Yi-Kong
authors: YK
authors: Keung
authors: UCLA, Hematology-Oncology Division Clinic, Alhambra, USA.
authors: Lap-Woon
authors: LW
authors: Keung
authors: UCLA, Hematology-Oncology Division Clinic, Alhambra, USA.
authors: Eddie
authors: E
authors: Hong-Lung Hu
mesh_terms: D006801:Humans; D015473:Leukemia, Promyelocytic, Acute / Q000188:drug therapy / Q000235:genetics*; D060046:Maintenance Chemotherapy / Q000379:methods*; D008297:Male; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics*; D008780:Methyltransferases / Q000235:genetics*; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D010198:Pancytopenia / Q000188:drug therapy / Q000235:genetics*; D012008:Recurrence
chemical_list: D042965:Methylenetetrahydrofolate Reductase (NADPH2); D008780:Methyltransferases; C022745:thiopurine methyltransferase
keywords: Acute promyelocytic leukemia; homozygous MTHFR C677T mutation; methylene tetrahydrofolate reductase; pancytopenia; thiopurine S-methyltransferase; thiopurine methyltransferase