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Identifying a Novel DPYD Polymorphism Associated with Severe Toxicity to 5-FU Chemotherapy in a Saudi Patient.
Case Rep Genet 2019; 2019:5150725CR

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.

Authors+Show Affiliations

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.Department of Medical Oncology, King Fahad Specialist Hospital in Dammam, Saudi Arabia.Department of Internal Medicine, University of Jeddah, Jeddah, Saudi Arabia.Department of Internal Medicine, King Abdulaziz University, Jeddah, Saudi Arabia.

Pub Type(s)

Case Reports

Language

eng

PubMed ID

31531249

Citation

Bukhari, Nedal, et al. "Identifying a Novel DPYD Polymorphism Associated With Severe Toxicity to 5-FU Chemotherapy in a Saudi Patient." Case Reports in Genetics, vol. 2019, 2019, p. 5150725.
Bukhari N, Azam F, Alfawaz M, et al. Identifying a Novel DPYD Polymorphism Associated with Severe Toxicity to 5-FU Chemotherapy in a Saudi Patient. Case Rep Genet. 2019;2019:5150725.
Bukhari, N., Azam, F., Alfawaz, M., & Zahrani, M. (2019). Identifying a Novel DPYD Polymorphism Associated with Severe Toxicity to 5-FU Chemotherapy in a Saudi Patient. Case Reports in Genetics, 2019, p. 5150725. doi:10.1155/2019/5150725.
Bukhari N, et al. Identifying a Novel DPYD Polymorphism Associated With Severe Toxicity to 5-FU Chemotherapy in a Saudi Patient. Case Rep Genet. 2019;2019:5150725. PubMed PMID: 31531249.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Identifying a Novel DPYD Polymorphism Associated with Severe Toxicity to 5-FU Chemotherapy in a Saudi Patient. AU - Bukhari,Nedal, AU - Azam,Faisal, AU - Alfawaz,Mohammed, AU - Zahrani,Mohammed, Y1 - 2019/08/21/ PY - 2019/06/17/received PY - 2019/07/15/accepted PY - 2019/9/19/entrez PY - 2019/9/19/pubmed PY - 2019/9/19/medline SP - 5150725 EP - 5150725 JF - Case reports in genetics JO - Case Rep Genet VL - 2019 N2 - 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. SN - 2090-6544 UR - https://www.unboundmedicine.com/medline/citation/31531249/Identifying_a_Novel_DPYD_Polymorphism_Associated_with_Severe_Toxicity_to_5-FU_Chemotherapy_in_a_Saudi_Patient L2 - https://dx.doi.org/10.1155/2019/5150725 DB - PRIME DP - Unbound Medicine ER -