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Case Report

Severe fluoropyrimidine toxicity in a patient with rectal adenocarcinoma with DPYD c.2846A>T heterozygous mutation: A case report

  • Authors:
    • Sezai Tunc
    • Ogur Karhan
  • View Affiliations / Copyright

    Affiliations: Department of Medical Oncology, Harran University Faculty of Medicine Hospital, Sanliurfa 63290, Turkey
  • Article Number: 585
    |
    Published online on: October 13, 2025
       https://doi.org/10.3892/ol.2025.15331
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Abstract

Dihydropyrimidine dehydrogenase (DPD) is the key enzyme involved in fluoropyrimidine metabolism. Variants in the DPYD gene can lead to DPD deficiency, markedly increasing the risk of toxicity. The present report describes a case of a patient with rectal cancer treated with the CAPOX regimen (capecitabine and oxaliplatin) who developed grade 3 mucositis, fever, diarrhea and multi‑organ dysfunction, necessitating prolonged intensive care unit support. The patient was managed with aggressive intravenous fluid therapy, a broad spectrum of antibiotics, antivirals and antifungal agents, extended use of granulocyte colony‑stimulating factor and intensive anti‑diarrheal treatment. Full clinical recovery was achieved, and the patient was discharged. Genetic analysis revealed a heterozygous c.2845A>T DPYD variant, known to be associated with fluoropyrimidine‑related toxicity. The present case underscores the importance of early recognition of potential DPD deficiency and the essential role of prompt, intensive supportive care in managing severe fluoropyrimidine-related toxicities.
View Figures

Figure 1

Appearance of toxic megacolon on
direct abdominal radiography.

Figure 2

Appearance of toxic megacolon on CT
imaging.
View References

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Copy and paste a formatted citation
Spandidos Publications style
Tunc S and Karhan O: Severe fluoropyrimidine toxicity in a patient with rectal adenocarcinoma with <em>DPYD</em> c.2846A&gt;T heterozygous mutation: A case report. Oncol Lett 30: 585, 2025.
APA
Tunc, S., & Karhan, O. (2025). Severe fluoropyrimidine toxicity in a patient with rectal adenocarcinoma with <em>DPYD</em> c.2846A&gt;T heterozygous mutation: A case report. Oncology Letters, 30, 585. https://doi.org/10.3892/ol.2025.15331
MLA
Tunc, S., Karhan, O."Severe fluoropyrimidine toxicity in a patient with rectal adenocarcinoma with <em>DPYD</em> c.2846A&gt;T heterozygous mutation: A case report". Oncology Letters 30.6 (2025): 585.
Chicago
Tunc, S., Karhan, O."Severe fluoropyrimidine toxicity in a patient with rectal adenocarcinoma with <em>DPYD</em> c.2846A&gt;T heterozygous mutation: A case report". Oncology Letters 30, no. 6 (2025): 585. https://doi.org/10.3892/ol.2025.15331
Copy and paste a formatted citation
x
Spandidos Publications style
Tunc S and Karhan O: Severe fluoropyrimidine toxicity in a patient with rectal adenocarcinoma with <em>DPYD</em> c.2846A&gt;T heterozygous mutation: A case report. Oncol Lett 30: 585, 2025.
APA
Tunc, S., & Karhan, O. (2025). Severe fluoropyrimidine toxicity in a patient with rectal adenocarcinoma with <em>DPYD</em> c.2846A&gt;T heterozygous mutation: A case report. Oncology Letters, 30, 585. https://doi.org/10.3892/ol.2025.15331
MLA
Tunc, S., Karhan, O."Severe fluoropyrimidine toxicity in a patient with rectal adenocarcinoma with <em>DPYD</em> c.2846A&gt;T heterozygous mutation: A case report". Oncology Letters 30.6 (2025): 585.
Chicago
Tunc, S., Karhan, O."Severe fluoropyrimidine toxicity in a patient with rectal adenocarcinoma with <em>DPYD</em> c.2846A&gt;T heterozygous mutation: A case report". Oncology Letters 30, no. 6 (2025): 585. https://doi.org/10.3892/ol.2025.15331
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