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

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 canc...

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Autores principales: Mukherji, Deborah, Massih, Sarah Abdel, Tfayli, Arafat, Kanso, Mariam, Faraj, Walid
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6429833/
https://www.ncbi.nlm.nih.gov/pubmed/30898145
http://dx.doi.org/10.1186/s13256-019-2013-z
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author Mukherji, Deborah
Massih, Sarah Abdel
Tfayli, Arafat
Kanso, Mariam
Faraj, Walid
author_facet Mukherji, Deborah
Massih, Sarah Abdel
Tfayli, Arafat
Kanso, Mariam
Faraj, Walid
author_sort Mukherji, Deborah
collection PubMed
description 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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spelling pubmed-64298332019-04-04 Three different polymorphisms of the DPYD gene associated with severe toxicity following administration of 5-FU: a case report Mukherji, Deborah Massih, Sarah Abdel Tfayli, Arafat Kanso, Mariam Faraj, Walid J Med Case Rep Case Report 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. BioMed Central 2019-03-22 /pmc/articles/PMC6429833/ /pubmed/30898145 http://dx.doi.org/10.1186/s13256-019-2013-z Text en © The Author(s). 2019 Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.
spellingShingle Case Report
Mukherji, Deborah
Massih, Sarah Abdel
Tfayli, Arafat
Kanso, Mariam
Faraj, Walid
Three different polymorphisms of the DPYD gene associated with severe toxicity following administration of 5-FU: a case report
title Three different polymorphisms of the DPYD gene associated with severe toxicity following administration of 5-FU: a case report
title_full Three different polymorphisms of the DPYD gene associated with severe toxicity following administration of 5-FU: a case report
title_fullStr Three different polymorphisms of the DPYD gene associated with severe toxicity following administration of 5-FU: a case report
title_full_unstemmed Three different polymorphisms of the DPYD gene associated with severe toxicity following administration of 5-FU: a case report
title_short Three different polymorphisms of the DPYD gene associated with severe toxicity following administration of 5-FU: a case report
title_sort three different polymorphisms of the dpyd gene associated with severe toxicity following administration of 5-fu: a case report
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6429833/
https://www.ncbi.nlm.nih.gov/pubmed/30898145
http://dx.doi.org/10.1186/s13256-019-2013-z
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