title: Dehydropyrimidine dehydrogenase deficiency in a cancer patient undergoing 5-fluorouracil chemotherapy.
abstract: We present a case of a Caucasian cancer patient undergoing 5-fluorouracil (5-FU)-containing chemotherapy in our department. The 49-year-old female patient suffered from adverse effects representing WHO grade 3 toxicity. Genotyping revealed that she carried the exon 14-skipping mutation which is known to result in dehydropyrimidine dehydrogenase (DPD) deficiency. DPD is the enzyme that converts 5-FU to inactive metabolites and therefore dictates the amount of 5-FU that is available to be metabolised to cytotoxic nucleotides. Consequently DPD deficiency is the cause of severe adverse and sometimes lethal reactions to 5-FU. In conclusion the identification of cancer patients at increased risk of severe toxicity prior to the administration of 5-FU would be desirable.
authors.affiliation: Department of Surgery, University of Göttingen, Göttingen, Germany. hbschneider@chirurgie-goettingen.de
authors.forename: H B
authors.initials: HB
authors.lastname: Schneider
authors.forename: H
authors.initials: H
authors.lastname: Becker
mesh_terms: D000971:Antineoplastic Combined Chemotherapy Protocols / Q000008:administration & dosage / Q000009:adverse effects* / Q000493:pharmacokinetics / Q000627:therapeutic use; D001943:Breast Neoplasms / Q000188:drug therapy* / Q000201:enzymology* / Q000235:genetics; D003520:Cyclophosphamide / Q000008:administration & dosage / Q000009:adverse effects / Q000493:pharmacokinetics; D054067:Dihydropyrimidine Dehydrogenase Deficiency; D042943:Dihydrouracil Dehydrogenase (NADP) / Q000235:genetics; D005260:Female; D005472:Fluorouracil / Q000008:administration & dosage / Q000009:adverse effects* / Q000493:pharmacokinetics; D006801:Humans; D008727:Methotrexate / Q000008:administration & dosage / Q000009:adverse effects / Q000493:pharmacokinetics; D008875:Middle Aged
chemical_list: D003520:Cyclophosphamide; D042943:Dihydrouracil Dehydrogenase (NADP); D005472:Fluorouracil; D008727:Methotrexate