Pharmacogenetics of the metabolism of pyrimidines. Dihydropyrimidin dehydrogenase;Pharmacogénétique du métabolisme des pyrimidines. La dihydropyrimidine déshydrogénase

Oncologie

Volumn 7, Issue 1, 2005, Pages 33-39

  Gamelin, E ^a   Boisdron Celle, M ^a   Morel, A ^a  

^a INSERM   (France)

Author keywords

5 fluororuracil; Dihydropyrimidin dehydrogenase; Pharmacogenetics; Pharmacogenomics; Pharmacokinetics; Pyrimidines; SNP; Toxicity

Indexed keywords

CAPECITABINE; DIHYDROPYRIMIDINE DEHYDROGENASE; DIHYDROURACIL; DRUG METABOLITE; FLAVINE ADENINE NUCLEOTIDE; FLUOROPYRIMIDINE DERIVATIVE; FLUOROURACIL; MESSENGER RNA; PYRIMIDINE DERIVATIVE; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE; THYMIDINE; THYMINE; UFT; URACIL;

ACUTE TOXICITY; ARTICLE; BINDING SITE; DIAGNOSTIC ACCURACY; DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY; DISEASE SEVERITY; DRUG INDUCED DISEASE; DRUG MEGADOSE; DRUG METABOLISM; ENZYMATIC ASSAY; ENZYME ACTIVITY; ENZYME DEFICIENCY; FREQUENCY ANALYSIS; GENE LOCATION; GENE SILENCING; GENETIC CODE; GENETIC POLYMORPHISM; HUMAN; INTOXICATION; LEUKOCYTE; METASTASIS; NORMAL DISTRIBUTION; PHARMACOGENETICS; PROMOTER REGION; PROTEIN EXPRESSION; PUBLIC HEALTH; PYRIMIDINE METABOLISM; QUANTITATIVE ANALYSIS; RADIOENZYMATIC ASSAY; REACTION TIME; RISK ASSESSMENT; SAMPLE SIZE; SENSITIVITY AND SPECIFICITY; SINGLE NUCLEOTIDE POLYMORPHISM; TREATMENT FAILURE;

EID: 17844386318     PISSN: 12923818     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10269-005-0149-5     Document Type: Article

References (34)

1. Bakkeren JA, De Abreu RA, Sengers RC, et al. (1984) Elevated urine, blood and cerebrospinal fluid levels of uracil and thymine in a child with dihydrothymine dehydrogenase deficiency. Clin Chim Acta 140: 247-56
2. Boisdron-Celle M, Remaud G, Barbado M, et al. (2002) Fluoropyrimidines- related severe toxicity. Comparison of different methods for detecting dihydropyrimidine dehydrogenase (DPD) deficiency and predicting 5-FU metabolism. Proc Am Assoc Cancer Res 43: 1593
3. Collie-Duguid ESR, Etienne MC, Milano G, et al. (2000) Known variant DPYD allelas do not explain DPD deficiency in cancer patients. Pharmacogenetics 10: 217-23
4. Deporte-Fety R, Picot M, Amiand M, et al. (2001) High-performance liquid chromatographic assay with ultraviolet detection for quantification of dihydrofluorouracil in human lymphocytes: application to measurement of dihydropyrimidine dehydrogenase activity. J Chromatogr B Biomed Sci Appl 762: 203-9
5. de Gramont A, Bosset JF, Milan C, et al. (1997) Randomized trial comparing monthly low-dose leucovorin and fluorouracil bolus with bimonthly high-dose leucovorin and fluorouracil bolus plus continuous infusion for advanced colorectal cancer: a French intergroup study. J Clin Oncol 15: 808-15
6. Diasio RB, Beavers TL, Carpenter JT (1988) Familial deficiency of dihydropyrimidine dehydrogenase (biochemical basis for familial pyrimidinemia and severe 5-fluorouracil-induced toxicity). J Clin Invest 81: 47-51
7. Diasio RB, Johnson MR (1999) Dihydropyrimidine dehydrogenase: its role in 5-fluorouracil clinical toxicity and tumor resistance. Clin Canc Res 5: 2672-3
8. Douillard JY, Cunningham D, Roth AD, et al. (2000) Irinotecan combined with fluorouracil compared with fluorouracil alone as first-line treatment for metastatic colorectal cancer: a multicentre randomised trial. Lancet 355: 1041-7
9. Etienne MC, Chatelut E, Pivot X, et al. (1998) Co-variables influencing 5-fluorouracil clearance during continuous venous infusion. A NONMEM analysis. Eur J Cancer 34: 92-7
10. Etienne MC, Lagrange JL, Dassonville O, et al. (1994) Population study of dihydropyrimidine dehydrogenase in cancer patients. J Clin Oncol 12: 2248-53
11. Fleming RA, Milano G, Thyss A, et al. (1992) Correlation between dihydropyrimidine dehydrogenase activity in peripheral mononuclear cells and systemic clearance of fluorouracil in cancer patients. Cancer Res 52: 2899-902
12. Gamelin EC, Boisdron-Celle M, Delva RG, et al. (1998) Long-term weekly treatment of colorectal metastatic cancer with fluorouracil and leucovorin: results of a multicentric prospective trial of fluorouracil dosage optimization by pharmacokinetic monitoring in 152 patients. J Clin Oncol 16: 1470-8
13. Gamelin EC, Boisdron-Celle M, Guerin Meyer V, et al. (1999) Correlation between uracil and dihydrouracil plasma ratio, fluorouracil (5-FU) pharmacocinetic parameters, and tolerance in patients with advanced colorectal cancer: a potential interest for predicting 5-FU toxicity and determining optimal 5-FU dosage. J Clin Oncol 17: 1105-10
14. Gamelin EC, Boisdron-Celle M, Larra F, et al. (1997) A simple chromatographic method for the analysis of pyrimidines and their dihydrogenated metabolites. J Liq Chrom Rel Technol 20: 3155-72
15. Gamelin EC, Danquechin-Dorval EM, Dumesnil Y, et al. (1996) Relationship between 5-fluorouracil dose-intensity and therapeutic response in patients with advanced colorectal cancer receiving 5-FU containing infusional therapy. Cancer 77: 441-51
16. Harris BE, Carpenter JT, Diasio RB (1991) Severe 5-fluorouracil toxicity secondary to dihydropyrimidine dehydrogenase deficiency. A potentially more common pharmacogenetic syndrome. Cancer 68: 499-501
17. Harris BE, Song R, Song SJ, Diasio RB (1990) Relationship between dihydropyrimidine dehydrogenase activity and plasma 5-fluorouracil levels with evidence for circadian variation of enzyme activity and plasma drug levels in cancer patients receiving 5-fluorouracil by protractred continuous infusion. Cancer 50: 197-201
18. Ho D, Covington W, Brown N, et al. (2000) Oral uracil and Ftorafur plus leucovorin: pharmacokinetics and toxicity in patients with metastatic cancer. Cancer Chemother Pharmacol 46: 351-6
19. Hoff PM, Ansari R, Batist G, et al. (2001) Comparison of oral capecitabine versus intravenous fluorouracil plus leucovorin as first-line treatment in 605 patients with metastatic colorectal cancer: results of a randomized phase III study. J Clin Oncol 19: 2282-92
20. Johnson MR, Yan J, Shao L, et al. (1997) Semi-automated radioassay for determination of dihydropyrimidine dehydrogenase (DPD) activity. Screening cancer patients for DPD deficiency, a condition associated with 5-fluorouracil toxicity. J ChromatogrB Biomed Sci Appl 696: 183-91
21. Johnson MR, Wang K, Diasio RB (2002) Profound dihydropyrimidine dehydrogenase deficiency resulting from a novel compound heterozygote genotype. Clin Cancer Res 8: 768-74
22. Johnson MR, Wang K, Smith JB, et al. (2000) Quantitation of dihydropyrimidine dehydrogenase expression by real-time reverse transcription polymerase chain reaction. Anal Biochem 278: 175-84
23. Lu Z, Zhang R, Carpenter JT, Diasio RB (1998) Decreased dihydropyrimidine dehydrogenase activity in a population of patients with breast cancer: implication for 5-fluorouracil-based chemotherapy. Clin Cancer Res 4: 325-9
24. Lu Z, Zhang R, Diasio RB (1993) Dihydropyrimidine dehydrogenase activity in human peripheral blood mononuclear cells and liver: population characteristics, newly identified deficient patients, and clinical implication in 5-fluorouracil chemotherapy. Cancer Res 53: 5433-8
25. Milano G, Etienne MC, Cassuto-Viguier E, et al. (1992) Influence of sex and age on fluorouracil clearance. J Clin Oncol 10: 1171-5
26. Milano G, Etienne MC, Renee N, et al. (1994) Relationship between fluorouracil systemic exposure and tumor response and patient survival. J Clin Oncol 12: 1291-5
27. Pinedo HM, Peters GFJ (1988) Fluorouracil: biochemistry and pharmacology. J Clin Oncol 6: 1653-64
28. Santini J, Milano G, Thyss A, et al. (1989) 5-FU therapeutic monitoring with dose adjustment leads to an improved therapeutic index in head and neck cancer. Br J Cancer 59: 287-90
29. Takimoto CH, Lu ZH, Zhang R, et al. (1996) Severe neurotoxicity following 5-fluorouracil-based chemotherapy in a patient with dihydropyrimidine dehydrogenase deficiency. Clin Cancer Res 2: 477-81
30. Tuchman, M, Stoeckeler JS, Kiang DT, et al. (1985) Familial pyrimidinemia and pyrimidinuria associated with severe fluorouracil toxicity. N Engl J Med 313: 245-9
31. van Kuilenburg AB, Muller EW, Haasjes J, et al. (2001) 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 7: 1149-53
32. van Kuilenburg ABP (2004) Dihydropyrimidine dehydrogenase and the efficacy and toxicity of 5-fluorouracil. Eur J Cancer 40: 939-50
33. Yokota HP, Fernandez-Salguero P, Furuya H, et al. (1994) cDNA cloning and chromosome mapping of human dihydropyrimidine dehydrogenase, an enzyme associated with 5-fluorouracil toxicity and congenital thymine uraciluria. J Biol Chem 269: 23192-6
34. Yoshida T, Araki E, Ligo M, et al. (1990) Clinical significance of monitoring serum levels of 5-fluorouracil by continuous infusion in patients with advanced colonic cancer. Cancer Chemother Pharmacol 26: 352-4