Identifying a Novel DPYD Polymorphism Associated with Severe Toxicity to 5-FU Chemotherapy in a Saudi Patient
Dihydropyrimidine dehydrogenase (DPD) is the major enzyme in the catabolism of 5-Fluorouracil (5-FU) and its prodrug capecitabine. We report a 65-year-old female with rectal adenocarcinoma who experienced severe toxicities secondary to standard dose 5-FU based chemotherapy. She was found to be heter...
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| Format: | Article |
| Language: | English |
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Wiley
2019-01-01
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| Series: | Case Reports in Genetics |
| Online Access: | http://dx.doi.org/10.1155/2019/5150725 |
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| author | Nedal Bukhari Faisal Azam Mohammed Alfawaz Mohammed Zahrani |
| author_facet | Nedal Bukhari Faisal Azam Mohammed Alfawaz Mohammed Zahrani |
| author_sort | Nedal Bukhari |
| collection | DOAJ |
| description | Dihydropyrimidine dehydrogenase (DPD) is the major enzyme in the catabolism of 5-Fluorouracil (5-FU) and its prodrug capecitabine. We report a 65-year-old female with rectal adenocarcinoma who experienced severe toxicities secondary to standard dose 5-FU based chemotherapy. She was found to be heterozygous for rs371313778, c.2434G>A. This finding prompted restarting 5-FU at 50% dose reduction with further titration in subsequent cycles. We herein report the first case of rs371313778, c.2434G>A (p.Val812lle) DPYD polymorphism leading to severe 5-FU toxicities. The patient eventually completed a 6-month course of adjuvant treatment with modification of 5-FU dose. |
| format | Article |
| id | doaj-art-e7ce006efe7a419d8f1442d983445abe |
| institution | Kabale University |
| issn | 2090-6544 2090-6552 |
| language | English |
| publishDate | 2019-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Genetics |
| spelling | doaj-art-e7ce006efe7a419d8f1442d983445abe2025-02-03T01:02:59ZengWileyCase Reports in Genetics2090-65442090-65522019-01-01201910.1155/2019/51507255150725Identifying a Novel DPYD Polymorphism Associated with Severe Toxicity to 5-FU Chemotherapy in a Saudi PatientNedal Bukhari0Faisal Azam1Mohammed Alfawaz2Mohammed Zahrani3Department of Medical Oncology, King Fahad Specialist Hospital in Dammam, Saudi ArabiaDepartment of Medical Oncology, King Fahad Specialist Hospital in Dammam, Saudi ArabiaDepartment of Internal Medicine, University of Jeddah, Jeddah, Saudi ArabiaDepartment of Internal Medicine, King Abdulaziz University, Jeddah, Saudi ArabiaDihydropyrimidine dehydrogenase (DPD) is the major enzyme in the catabolism of 5-Fluorouracil (5-FU) and its prodrug capecitabine. We report a 65-year-old female with rectal adenocarcinoma who experienced severe toxicities secondary to standard dose 5-FU based chemotherapy. She was found to be heterozygous for rs371313778, c.2434G>A. This finding prompted restarting 5-FU at 50% dose reduction with further titration in subsequent cycles. We herein report the first case of rs371313778, c.2434G>A (p.Val812lle) DPYD polymorphism leading to severe 5-FU toxicities. The patient eventually completed a 6-month course of adjuvant treatment with modification of 5-FU dose.http://dx.doi.org/10.1155/2019/5150725 |
| spellingShingle | Nedal Bukhari Faisal Azam Mohammed Alfawaz Mohammed Zahrani Identifying a Novel DPYD Polymorphism Associated with Severe Toxicity to 5-FU Chemotherapy in a Saudi Patient Case Reports in Genetics |
| title | Identifying a Novel DPYD Polymorphism Associated with Severe Toxicity to 5-FU Chemotherapy in a Saudi Patient |
| title_full | Identifying a Novel DPYD Polymorphism Associated with Severe Toxicity to 5-FU Chemotherapy in a Saudi Patient |
| title_fullStr | Identifying a Novel DPYD Polymorphism Associated with Severe Toxicity to 5-FU Chemotherapy in a Saudi Patient |
| title_full_unstemmed | Identifying a Novel DPYD Polymorphism Associated with Severe Toxicity to 5-FU Chemotherapy in a Saudi Patient |
| title_short | Identifying a Novel DPYD Polymorphism Associated with Severe Toxicity to 5-FU Chemotherapy in a Saudi Patient |
| title_sort | identifying a novel dpyd polymorphism associated with severe toxicity to 5 fu chemotherapy in a saudi patient |
| url | http://dx.doi.org/10.1155/2019/5150725 |
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