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Case Reports
. 2019 Mar 22;13(1):76.
doi: 10.1186/s13256-019-2013-z.

Three different polymorphisms of the DPYD gene associated with severe toxicity following administration of 5-FU: a case report

Deborah Mukherji  1 , Sarah Abdel Massih  1 , Arafat Tfayli  1 , Mariam Kanso  2 , Walid Faraj  3
Affiliations
Case Reports

Three different polymorphisms of the DPYD gene associated with severe toxicity following administration of 5-FU: a case report

Deborah Mukherji et al. J Med Case Rep. .

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.

Keywords: 5-FU toxicity; Compound heterozygous polymorphism; DPYD gene; Dihydropyrimidine dehydrogenase (DPD) enzyme.

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Written informed consent was obtained from the patient for publication of this case report and any accompanying images. A copy of the written consent is available for review by the Editor-in-Chief of this journal.

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The authors declare that they have no competing interests.

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