1. Lethal Capecitabine Toxicity in Patients With Complete Dihydropyrimidine Dehydrogenase Deficiency Due to Ultra-Rare DPYD Variants.
- Author
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van Kuilenburg, André B.P., Pleunis-van Empel, Marjolein C.H., Brouwer, Rick B., Sijben, Angelique E.J., Knapen, Daan G., Oude Munnink, Thijs H., van Zanden, Jelmer J., Janssens-Puister, Jenny, Dobritzsch, Doreen, Meinsma, Rutger, Meijer-Jansen, Judith, van Dooren, Silvy J.M., Vijzelaar, Raymon, Pop, Ana, Salomons, Gajja S., Maring, Jan Gerard, and Niezen-Koning, Klary E.
- Subjects
EPIDERMAL growth factor receptors ,FLAVIN adenine dinucleotide ,NICOTINAMIDE adenine dinucleotide phosphate ,DIHYDROPYRIMIDINE dehydrogenase ,FLAVIN mononucleotide ,TESTICULAR cancer ,SEMINOMA - Abstract
The article discusses lethal capecitabine toxicity in patients with complete dihydropyrimidine dehydrogenase deficiency due to ultra-rare DPYD variants. It emphasizes the importance of preemptive genetic analysis of DPYD to reduce fluoropyrimidine-related adverse events and highlights the need for comprehensive genotyping and phenotyping strategies for identifying patients at risk of severe toxicity. The study presents two cases of patients with complete DPYD deficiency due to ultra-rare DPYD variants and lethal capecitabine toxicity, underscoring the challenges in predicting severe toxicity in patients with rare DPYD variants. The research advocates for a combined genotyping/phenotyping approach to enhance the safety of fluoropyrimidine-based therapy, even in patients with complete DPYD deficiency. [Extracted from the article]
- Published
- 2024
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