Three different polymorphisms of the DPYD gene associated with severe toxicity following administration of 5-FU: A case report
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BioMed Central Ltd.
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. © 2019 The Author(s).
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Keywords
5-fu toxicity, Compound heterozygous polymorphism, Dihydropyrimidine dehydrogenase (dpd) enzyme, Dpyd gene, Adenocarcinoma, Antimetabolites, antineoplastic, Antineoplastic combined chemotherapy protocols, Dihydropyrimidine dehydrogenase deficiency, Female, Fluorouracil, Humans, Middle aged, Pancreatic neoplasms, Polymorphism, genetic, Aciclovir, Filgrastim, Fluconazole, Folinic acid, Gemcitabine, Hemoglobin, Irinotecan, Loperamide, Oxaliplatin, Paclitaxel, Piperacillin, Tazobactam, Vancomycin, Antineoplastic agent, Antineoplastic antimetabolite, Adult, Article, Body weight loss, Cancer chemotherapy, Case report, Chronic toxicity, Clinical article, Diarrhea, Disorders of purine and pyrimidine metabolism, Drug withdrawal, Erythema, Febrile neutropenia, Gene, Genetic association, Genetic polymorphism, Genetic variation, Gilbert disease, Hemoglobin blood level, Heterozygosity, Human, Lebanese, Metastatic pancreatic adenocarcinoma, Mucosa inflammation, Neutropenia, Next generation sequencing, Odynophagia, Pancreas adenocarcinoma, Parenteral nutrition, Platelet count, Priority journal, Side effect, Skin exfoliation, Treatment response, Uridine diphosphoglucuronateglucuronosyltransferase 1a1 deficiency, Complication, Pancreas tumor