Dihydropyrimidine dehydrogenase deficiency as a cause of fatal 5-Fluorouracil toxicity

Authors

  • Shiraz S. Fidai University of Chicago Medicine, Department of Pathology
  • Aarti E. Sharma University of Chicago Medicine, Department of Pathology
  • Daniel N. Johnson University of Chicago Medicine, Department of Pathology
  • Jeremy P. Segal University of Chicago Medicine, Department of Pathology
  • Ricardo R. Lastra University of Chicago Medicine, Department of Pathology

Keywords:

Dihydropyrimidine Dehydrogenase Deficiency, Drug-Related Side Effects and Adverse Reactions, Genetic Testing; Fluorouracil, Pancytopenia

Abstract

5-Fluorouracil (5-FU), in combination with other cytotoxic drugs, is commonly used to treat a variety of cancers. Dihydropyrimidine dehydrogenase (DPD) catalyzes the first catabolic step of the 5-FU degradation pathway, converting 80% of 5-FU to its inactive metabolite. Approximately 0.3% of the population demonstrate complete DPD deficiency, translating to extreme toxicity of 5-FU. Here we present a case of a patient who had a fatal outcome after treatment with 5-FU who was found to have an unknown DPD deficiency discovered at autopsy.

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Published

2018-12-12

Issue

Vol. 8 No. 4 (2018)

Section

Article / Autopsy Case Report

License

Authors of articles published by Autopsy and Case Report retain the copyright of their work without restrictions, licensing it under the Creative Commons Attribution License - CC-BY, which allows articles to be re-used and re-distributed without restriction, as long as the original work is correctly cited.

How to Cite

Fidai, S. S., Sharma, A. E., Johnson, D. N., Segal, J. P., & Lastra, R. R. (2018). Dihydropyrimidine dehydrogenase deficiency as a cause of fatal 5-Fluorouracil toxicity. Autopsy and Case Reports, 8(4), e2018049. https://revistas.usp.br/autopsy/article/view/152614