Identifying a Novel DPYD Polymorphism Associated with Severe Toxicity to 5-FU Chemotherapy in a Saudi Patient

Nedal Bukhari; Faisal Azam; Mohammed Alfawaz; Mohammed Zahrani

doi:10.1155/2019/5150725

Identifying a Novel DPYD Polymorphism Associated with Severe Toxicity to 5-FU Chemotherapy in a Saudi Patient

Case Rep Genet. 2019 Aug 21:2019:5150725. doi: 10.1155/2019/5150725. eCollection 2019.

Authors

Nedal Bukhari^{1

2}, Faisal Azam¹, Mohammed Alfawaz³, Mohammed Zahrani⁴

Affiliations

¹ Department of Medical Oncology, King Fahad Specialist Hospital in Dammam, Saudi Arabia.
² Department of Internal Medicine, King Fahad University Hospital, Imam Abdulrahman Bin Faisal University, Dammam, Saudi Arabia.
³ Department of Internal Medicine, University of Jeddah, Jeddah, Saudi Arabia.
⁴ Department of Internal Medicine, King Abdulaziz University, Jeddah, Saudi Arabia.

Abstract

Dihydropyrimidine dehydrogenase (DPD) is the major enzyme in the catabolism of 5-Fluorouracil (5-FU) and its prodrug capecitabine. We report a 65-year-old female with rectal adenocarcinoma who experienced severe toxicities secondary to standard dose 5-FU based chemotherapy. She was found to be heterozygous for rs371313778, c.2434G>A. This finding prompted restarting 5-FU at 50% dose reduction with further titration in subsequent cycles. We herein report the first case of rs371313778, c.2434G>A (p.Val812lle) DPYD polymorphism leading to severe 5-FU toxicities. The patient eventually completed a 6-month course of adjuvant treatment with modification of 5-FU dose.

Publication types

Case Reports