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Journal of Medical Case Reports

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Open Access 01-12-2019 | Case report

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

Authors: Deborah Mukherji, Sarah Abdel Massih, Arafat Tfayli, Mariam Kanso, Walid Faraj

Published in: Journal of Medical Case Reports | Issue 1/2019

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.

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Title: Three different polymorphisms of the DPYD gene associated with severe toxicity following administration of 5-FU: a case report
Authors: Deborah Mukherji
Sarah Abdel Massih
Arafat Tfayli
Mariam Kanso
Walid Faraj
Publication date: 01-12-2019
Publisher: BioMed Central
Published in: Journal of Medical Case Reports / Issue 1/2019
Electronic ISSN: 1752-1947
DOI: https://doi.org/10.1186/s13256-019-2013-z

At a glance: The STEP trials

Springer Medicine

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

Abstract

Background

Case presentation

Conclusion

At a glance: The STEP trials

Springer Medicine

Abstract

Background

Case presentation

Conclusion

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