• TREATMENT

    Rare DPYD Variant Linked to Severe Fluoropyrimidine Toxicity

    A 50-year-old colorectal cancer patient developed life-threatening grade 3-4 toxicities after adjuvant XELOX; sequencing identified a rare intronic DPYD variant (c.2766+3A>T) that causes exon 21 skipping and profound DPD deficiency, which was missed by routine genotyping. (British Journal of Clinical Pharmacology)