A Japanese Patient with Gastric Cancer and Dihydropyrimidine Dehydrogenase Deficiency Presenting with DPYD Variants

Acta Med Okayama. 2020 Dec;74(6):557-562. doi: 10.18926/AMO/61217.

Abstract

A 63-year-old Japanese male with stomach adenocarcinoma received oral 5-fluorouracil derivative, cisplatin and trastuzumab chemotherapy. On day 8, severe diarrhea and mucositis developed; chemotherapy was stopped. On day 14, the patient developed renal dysfunction and febrile neutropenia. He also suffered from pneumonia due to Candida albicans. Systemic symptoms improved after intensive conservative treatment. Best supportive care was continued until the patient died from gastric cancer. The dihydropyrimidine dehydroge-nase protein level was low at 3.18 U/mg protein. The result of DPYD genotyping revealed three variants at posi-tions 1615 (G > A), 1627 (A > G), and 1896 (T > C) in exons 13, 13, and 14, respectively.

Keywords: 5-fluorouracil; DPYD variant; dihydropyrimidine dehydrogenase deficiency; gastric cancer.

Publication types

  • Case Reports

MeSH terms

  • Adenocarcinoma / drug therapy*
  • Antimetabolites, Antineoplastic / administration & dosage
  • Antimetabolites, Antineoplastic / adverse effects*
  • Contraindications, Drug
  • Dihydropyrimidine Dehydrogenase Deficiency / diagnosis*
  • Fatal Outcome
  • Fluorouracil / administration & dosage
  • Fluorouracil / adverse effects*
  • Humans
  • Male
  • Middle Aged
  • Stomach Neoplasms / drug therapy*

Substances

  • Antimetabolites, Antineoplastic
  • Fluorouracil