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: H B Schneider, H Becker
• Journal: Anticancer research (Anticancer Res) 2004 Mar-Apr Vol. 24 Issue 2C Pg. 1091-2 ISSN: 0250-7005 [Print] Greece
• PMID: 15154628 (Publication Type: Case Reports, Journal Article)

Chemical References

• Cyclophosphamide
• Dihydrouracil Dehydrogenase (NADP)
• Fluorouracil
• Methotrexate

Topics

• Antineoplastic Combined Chemotherapy Protocols (administration & dosage, adverse effects, pharmacokinetics, therapeutic use)
• Breast Neoplasms (drug therapy, enzymology, genetics)
• Cyclophosphamide (administration & dosage, adverse effects, pharmacokinetics)
• Dihydropyrimidine Dehydrogenase Deficiency
• Dihydrouracil Dehydrogenase (NADP) (genetics)
• Female
• Fluorouracil (administration & dosage, adverse effects, pharmacokinetics)
• Humans
• Methotrexate (administration & dosage, adverse effects, pharmacokinetics)
• Middle Aged