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

Mikako Ishiguro, Ryuta Takenaka, Kenichiro Ogura, Akira Hiratsuka, Hiromasa Takeda, Daisuke Kawai, Hirofumi Tsugeno, Shigeatsu Fujiki, Hiroyuki Okada

Research output: Contribution to journalArticlepeer-review

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 dehydrogenase protein level was low at 3.18 U/mg protein. The result of DPYD genotyping revealed three variants at positions 1615 (G>A), 1627 (A>G), and 1896 (T>C) in exons 13, 13, and 14, respectively.

Original languageEnglish
Pages (from-to)557-562
Number of pages6
JournalActa medica Okayama
Volume74
Issue number6
Publication statusPublished - 2020

Keywords

  • 5-fluorouracil
  • dihydropyrimidine dehydrogenase deficiency
  • DPYD variant
  • gastric cancer

ASJC Scopus subject areas

  • Biochemistry, Genetics and Molecular Biology(all)

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