Bukhari Nedal, Azam Faisal, Alfawaz Mohammed, Zahrani Mohammed
Department of Medical Oncology, King Fahad Specialist Hospital in Dammam, Saudi Arabia.
Department of Internal Medicine, King Fahad University Hospital, Imam Abdulrahman Bin Faisal University, Dammam, Saudi Arabia.
Case Rep Genet. 2019 Aug 21;2019:5150725. doi: 10.1155/2019/5150725. eCollection 2019.
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) polymorphism leading to severe 5-FU toxicities. The patient eventually completed a 6-month course of adjuvant treatment with modification of 5-FU dose.
二氢嘧啶脱氢酶（DPD）是5-氟尿嘧啶（5-FU）及其前药卡培他滨分解代谢的主要酶。我们报告了一名65岁的直肠腺癌女性患者，她在接受基于标准剂量5-FU的化疗后出现了严重毒性反应。发现她对于rs371313778（c.2434G>A）为杂合子。这一发现促使在后续周期中将5-FU剂量降低50%重新开始使用，并进一步滴定。我们在此报告首例rs371313778（c.2434G>A，p.Val812lle）多态性导致严重5-FU毒性反应的病例。该患者最终通过调整5-FU剂量完成了为期6个月的辅助治疗疗程。
