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Three different polymorphisms of the DPYD gene associated with severe toxicity following administration of 5-FU: a case report.
J Med Case Rep 2019; 13(1):76JM

Abstract

BACKGROUND

Dihydropyrimidine dehydrogenase deficiency secondary to polymorphisms in the DPYD gene can lead to significant toxicity associated with the administration of fluoropyrimidine chemotherapy.

CASE PRESENTATION

We report a case of a 59-year-old Lebanese woman with metastatic pancreatic cancer who received FOLFIRINOX therapy and developed severe 5-fluorouracil toxicity after a single cycle. The entire DPYD gene was sequenced, and the patient was found to be heterozygous for three different polymorphisms that have reportedly been associated with dihydropyrimidine dehydrogenase deficiency.

CONCLUSION

Because data regarding the prevalence and clinical significance of several heterozygous polymorphisms in a single DPYD gene are very limited, we suggest that full gene sequencing should be carried out, at least in populations in which the allele frequencies are unknown.

Authors+Show Affiliations

Division of Hematology-Oncology, Department of Internal Medicine, American University of Beirut, Beirut, Lebanon.Division of Hematology-Oncology, Department of Internal Medicine, American University of Beirut, Beirut, Lebanon.Division of Hematology-Oncology, Department of Internal Medicine, American University of Beirut, Beirut, Lebanon.Department of Surgery, HPB and Liver Transplant Unit, American University of Beirut, PO Box 11-0236, Riad El Solh, Beirut, 1107 2020, Lebanon.Department of Surgery, HPB and Liver Transplant Unit, American University of Beirut, PO Box 11-0236, Riad El Solh, Beirut, 1107 2020, Lebanon. wf07@aub.edu.lb.

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

30898145

Citation

Mukherji, Deborah, et al. "Three Different Polymorphisms of the DPYD Gene Associated With Severe Toxicity Following Administration of 5-FU: a Case Report." Journal of Medical Case Reports, vol. 13, no. 1, 2019, p. 76.
Mukherji D, Massih SA, Tfayli A, et al. Three different polymorphisms of the DPYD gene associated with severe toxicity following administration of 5-FU: a case report. J Med Case Rep. 2019;13(1):76.
Mukherji, D., Massih, S. A., Tfayli, A., Kanso, M., & Faraj, W. (2019). Three different polymorphisms of the DPYD gene associated with severe toxicity following administration of 5-FU: a case report. Journal of Medical Case Reports, 13(1), p. 76. doi:10.1186/s13256-019-2013-z.
Mukherji D, et al. Three Different Polymorphisms of the DPYD Gene Associated With Severe Toxicity Following Administration of 5-FU: a Case Report. J Med Case Rep. 2019 Mar 22;13(1):76. PubMed PMID: 30898145.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Three different polymorphisms of the DPYD gene associated with severe toxicity following administration of 5-FU: a case report. AU - Mukherji,Deborah, AU - Massih,Sarah Abdel, AU - Tfayli,Arafat, AU - Kanso,Mariam, AU - Faraj,Walid, Y1 - 2019/03/22/ PY - 2018/08/13/received PY - 2019/02/07/accepted PY - 2019/3/23/entrez PY - 2019/3/23/pubmed PY - 2019/7/23/medline KW - 5-FU toxicity KW - Compound heterozygous polymorphism KW - DPYD gene KW - Dihydropyrimidine dehydrogenase (DPD) enzyme SP - 76 EP - 76 JF - Journal of medical case reports JO - J Med Case Rep VL - 13 IS - 1 N2 - BACKGROUND: Dihydropyrimidine dehydrogenase deficiency secondary to polymorphisms in the DPYD gene can lead to significant toxicity associated with the administration of fluoropyrimidine chemotherapy. CASE PRESENTATION: We report a case of a 59-year-old Lebanese woman with metastatic pancreatic cancer who received FOLFIRINOX therapy and developed severe 5-fluorouracil toxicity after a single cycle. The entire DPYD gene was sequenced, and the patient was found to be heterozygous for three different polymorphisms that have reportedly been associated with dihydropyrimidine dehydrogenase deficiency. CONCLUSION: Because data regarding the prevalence and clinical significance of several heterozygous polymorphisms in a single DPYD gene are very limited, we suggest that full gene sequencing should be carried out, at least in populations in which the allele frequencies are unknown. SN - 1752-1947 UR - https://www.unboundmedicine.com/medline/citation/30898145/Three_different_polymorphisms_of_the_DPYD_gene_associated_with_severe_toxicity_following_administration_of_5_FU:_a_case_report_ L2 - https://jmedicalcasereports.biomedcentral.com/articles/10.1186/s13256-019-2013-z DB - PRIME DP - Unbound Medicine ER -