Lethal 5-fluorouracil toxicity associated with a novel mutation in the dihydropyrimidine dehydrogenase gene [4]

Annals of Oncology

Volumn 14, Issue 2, 2003, Pages 341-342

  van Kuilenburg, A B P ^a   Baars, J W ^b   Meinsma, R ^a   van Gennip, A H ^a  

^a UNIVERSITY OF AMSTERDAM   (Netherlands)

^b ANTONI VAN LEEUWENHOEK HOSPITAL   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

ANTIBIOTIC AGENT; ANTIFUNGAL AGENT; BRCA1 PROTEIN; CARBOPLATIN; CHLORAMBUCIL; DIHYDROPYRIMIDINE DEHYDROGENASE; FLUOROURACIL; FOLINIC ACID; MESSENGER RNA; PACLITAXEL; TAMOXIFEN;

ADULT; ALLELE; ALOPECIA; ANEMIA; CANCER PATIENT; CANCER STAGING; CASE REPORT; DEATH; DRUG METABOLISM; ERYTHRODERMA; EXON; FEMALE; GENE MUTATION; GENETIC SCREENING; HUMAN; LETTER; LEUKOPENIA; LIVER METASTASIS; MUCOSA INFLAMMATION; NONSENSE MUTATION; OVARY CANCER; PRIORITY JOURNAL; RNA TRANSLATION; STOP CODON; THROMBOCYTOPENIA;

ADULT; ALOPECIA; ANEMIA; ANTIMETABOLITES, ANTINEOPLASTIC; ANTINEOPLASTIC COMBINED CHEMOTHERAPY PROTOCOLS; DIHYDROURACIL DEHYDROGENASE (NADP); DNA MUTATIONAL ANALYSIS; DNA, NEOPLASM; FATAL OUTCOME; FEMALE; FLUOROURACIL; HUMANS; MOUTH MUCOSA; OVARIAN NEOPLASMS; OXIDOREDUCTASES; POINT MUTATION; STOMATITIS; THROMBOCYTOPENIA;

EID: 0345700864     PISSN: 09237534     EISSN: None     Source Type: Journal    
DOI: 10.1093/annonc/mdg053     Document Type: Letter

References (4)

1. Van Kuilenburg ABP, Haasjes J, Richel DJ et al. Clinical implications of dihydropyrimidine dehydrogenase (DPD) deficiency in patients with severe 5-fluorouracil-associated toxicity: identification of new mutations in the DPD gene. Clin Cancer Res 2000; 6: 4705-4712.
2. Van Kuilenburg ABP, Muller EW, Haasjes J et al. Lethal outcome of a patient with a complete dihydropyrimidine dehydrogenase (DPD) deficiency after administration of 5-fluorouracil: frequency of the common IVS14+1G>A mutation causing DPD deficiency. Clin Cancer Res 2001; 7: 1149-1153.
3. Van Kuilenburg ABP, Dobritzsch D, Meinsma R et al. Novel disease-causing mutations in the dihydropyrimidine dehydrogenase gene interpreted by analysis of the three-dimensional protein structure. Biochem J 2002; 364: 157-163.
4. Van Kuilenburg ABP, Meinsma R, Zoetekouw L, van Gennip AH. Increased risk of grade IV neutropenia after the administration of 5-fluorouracil due to a dihydropyrimidine dehydrogenase deficiency: high prevalence of the IVS14+1G>A mutation. Int J Cancer 2002; 101: