Lethal Capecitabine Toxicity in Patients With Complete Dihydropyrimidine Dehydrogenase Deficiency Due to Ultra-Rare DPYD Variants

JCO Precis Oncol. 2024 May:8:e2300599. doi: 10.1200/PO.23.00599.

¹ Amsterdam University Medical Center, University of Amsterdam, Cancer Center Amsterdam, Amsterdam Gastroenterology Endocrinology Metabolism, Laboratory Genetic Metabolic Diseases, Amsterdam, the Netherlands.
² Medisch Spectrum Twente, Department of Oncology, Enschede, the Netherlands.
³ Department of Clinical Chemistry and Laboratory Medicine, Medisch Spectrum Twente, Medlon BV, Enschede, the Netherlands.
⁴ Department of Neurology, Medisch Spectrum Twente, Enschede, the Netherlands.
⁵ Department of Medical Oncology, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands.
⁶ Department of Clinical Pharmacy and Pharmacology, University Medical Centre Groningen, University of Groningen, Groningen, the Netherlands.
⁷ Martini Hospital Groningen, Certe Department of Clinical Chemistry, the Netherlands.
⁸ Department of Laboratory Medicine, University of Groningen, University Medical Center Groningen, Groningen, the Netherlands.
⁹ Department of Chemistry, Uppsala University, Biomedical Center, Uppsala, Sweden.
¹⁰ MRC-Holland bv, Amsterdam, the Netherlands.
¹¹ Departments of Clinical Pharmacy and Medical Oncology, Isala, Zwolle, the Netherlands.

Abstract

A DPD deficiency should be considered in case of severe toxicity even in the absence of common risk variants in DPYD.