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


Journal

Case reports in genetics
ISSN: 2090-6544
Titre abrégé: Case Rep Genet
Pays: United States
ID NLM: 101583302

Informations de publication

Date de publication:
2019
Historique:
received: 17 06 2019
accepted: 15 07 2019
entrez: 19 9 2019
pubmed: 19 9 2019
medline: 19 9 2019
Statut: epublish

Résumé

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)

Identifiants

pubmed: 31531249
doi: 10.1155/2019/5150725
pmc: PMC6720358
doi:

Types de publication

Case Reports

Langues

eng

Pagination

5150725

Déclaration de conflit d'intérêts

The authors have no conflicts of interest to declare.

Références

J Clin Oncol. 2001 Apr 15;19(8):2282-92
pubmed: 11304782
Adv Enzyme Regul. 2001;41:151-7
pubmed: 11384742
J Clin Oncol. 2001 Nov 1;19(21):4097-106
pubmed: 11689577
Clin Pharmacol Ther. 2013 Dec;94(6):640-5
pubmed: 23988873
Mayo Clin Proc. 2014 Jan;89(1):131-136
pubmed: 24388031
J Clin Oncol. 2016 Jan 20;34(3):227-34
pubmed: 26573078
Lancet Oncol. 2015 Dec;16(16):1639-50
pubmed: 26603945
Clin Pharmacol Ther. 2018 Feb;103(2):210-216
pubmed: 29152729
J Gastrointest Oncol. 2018 Jun;9(3):416-424
pubmed: 29998006
Front Oncol. 2018 Jul 24;8:279
pubmed: 30087856
Genomics. 1998 Aug 1;51(3):391-400
pubmed: 9721209

Auteurs

Nedal Bukhari (N)

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.

Faisal Azam (F)

Department of Medical Oncology, King Fahad Specialist Hospital in Dammam, Saudi Arabia.

Mohammed Alfawaz (M)

Department of Internal Medicine, University of Jeddah, Jeddah, Saudi Arabia.

Mohammed Zahrani (M)

Department of Internal Medicine, King Abdulaziz University, Jeddah, Saudi Arabia.

Classifications MeSH