Pharmacokinetics of 5-fluorouracil in patients heterozygous for the IVS14+1G>A mutation in the dihydropyrimidine dehydrogenase gene

Nucleosides, Nucleotides and Nucleic Acids

Volumn 27, Issue 6-7, 2008, Pages 692-698

  Van Kuilenburg, A B P ^a,f   Maring, J G ^b   Schalhorn, A ^c   Terborg, C ^d   Schmalenberg, H ^d   Behnke, D ^e   Schwabe, W ^e   Jabschinsky, K ^e   Hausler, P ^e  

^a UNIVERSITY OF AMSTERDAM   (Netherlands)

^b Bethesda Hospital   (Netherlands)

^c LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

^d JENA UNIVERSITY HOSPITAL   (Germany)

^e Oncoscreen GmbH   (Germany)

^f ACADEMIC MEDICAL CENTER   (Netherlands)

Author keywords

5 fluorouracil; Dihydropyrimidine dehydrogenase; DPYD; Pharmacokinetics; Toxicity

Indexed keywords

DIHYDROPYRIMIDINE DEHYDROGENASE; FLUOROURACIL;

AREA UNDER THE CURVE; CLINICAL ARTICLE; CONFERENCE PAPER; CONTROLLED STUDY; DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY; DRUG BLOOD LEVEL; DRUG CLEARANCE; DRUG HALF LIFE; ENZYME DEFICIENCY; GENE MUTATION; HUMAN; PATIENT IDENTIFICATION;

ANTINEOPLASTIC AGENTS; AREA UNDER CURVE; DIHYDROURACIL DEHYDROGENASE (NADP); FLUOROURACIL; HETEROZYGOTE; HUMANS; METABOLIC CLEARANCE RATE; MUTATION; NEOPLASMS;

EID: 46749147549     PISSN: 15257770     EISSN: 15322335     Source Type: Journal    
DOI: 10.1080/15257770802145009     Document Type: Conference Paper

References (26)

1. Meyerhardt, J.A.; Mayer, R.J. Systemic therapy for colorectal cancer. N. Engl. J. Med., 2005, 352, 476-487.
2. Twelves, C.; Wong, A.; Nowacki, M.P.; Abt, M.; Burris, H.; III, et al. Capecitabine as adjuvant treatment for stage III colon cancer. N. Engl. J. Med., 2005, 352, 2696-2704.
3. Mattison, L.K.; Soong, R.; Diasio, R.B. Implications of dihydropyrimidine dehydrogenase on 5-fluorouracil pharmacogenetics and pharmacogenomics. Pharmacogenomics, 2002, 3, 485-492.
4. van Kuilenburg, A.B.P. Dihydropyrimidine dehydrogenase and the efficacy and toxicity of 5-fluorouracil. Eur. J. Cancer, 2004, 40, 939-950.
5. van Kuilenburg, A.B.P.; Haasjes, J.; Richel, D.J.; Zoetekouw, L.; van Lenthe, H.; 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.
6. Milano, G.A.; Etienne, M.C.; Pierrefite, V.; Barberi-Heyob, M.; Deporte-Fety, R.; Renée, N. Dihydropyrimidine dehydrogenase deficiency and fluorouracil-related toxicity. Br. J. Cancer, 1999, 79, 627-630.
7. Morel, A.; Boisdron-Celle, M.; Fey, L.; Soulie, P.; Craipeau, M.C.; et al. Clinical relevance of different dihydropyrimidine dehydrogenase gene single nucleotide polymorphisms on 5-fluorouracil tolerance. Mol. Cancer Ther., 2006, 5, 2895-2904.
8. Johnson, M.R.; Wang, K.; Diasio, R.B. Profound dihydropyrimidine dehydrogenase deficiency resulting from a novel compound heterozygote genotype. Clin. Cancer Res., 2002, 8, 768-774.
9. Raida, M.; Schwabe, W.; Häusler, P.; van Kuilenburg, A.B.P.; van Gennip, A.H.; et al. Prevalence of a common point mutation in the dihydropyrimidine dehydrogenase (DPD) gene within the 5′-splice donor site of intron 14 in patients with severe 5-fluorouracil (5-FU)- related toxicity compared with controls. Clin. Cancer Res., 2001, 7, 2832-2839.
10. van Kuilenburg, A.B.P.; Vreken, P.; Abeling, N.G.G.M.; Bakker, H.D.; Meinsma, J.R.; et al. Genotype and phenotype in patients with dihydropyrimidine dehydrogenase deficiency. Hum. Genet., 1999, 104, 1-9.
11. Boisdron-Celle, M.; Remaud, G.; Traore, S.; Poirier, A.L.; Gamelin, L.; et al. 5-Fluorouracil-related severe toxicity: A comparison of different methods for the pretherapeutic detection of dihydropyrimidine dehydrogenase deficiency. Cancer Lett., 2007, 249, 271-282.
12. Di Paolo, A.; Danesi, R.; Falcone, A.; Cionini, L.; Vannozzi, F.; et al. Relationship between 5-fluorouracil disposition, toxicity and dihydropyrimidine dehydrogenase activity in cancer patients. Ann. Oncol., 2001, 12, 1301-1306.
13. Gamelin, E.; Boisdron-Celle, M. Dose monitoring of 5-fluorouracil in patients with colorectal or head and neck cancer - status of the art. Crit Rev. Oncol. Hematol. 1999, 30, 71-79.
14. Maring, J.G.; van Kuilenburg, A.B.P.; Haasjes, J.; Piersma, H.; Groen, H.J.M.; et al. Reduced 5-FU clearance in a patient with low DPD activity due to heterozygosity for a mutant allele of the DPYD gene. Br. J. Cancer, 2002, 86, 1028-1033.
15. Gusella, M.; Crepaldi, G.; Barile, C.; Bononi, A.; Menon, D.; et al. Pharmacokinetic and demographic markers of 5-fluorouracil toxicity in 181 patients on adjuvant therapy for colorectal cancer. Ann. Oncol. 2006, 17, 1656-1660.
16. Codacci-Pisanelli, G.; Pinedo, H.M.; Lankelma, J.; Van Groeningen, C.J.; van Kuilenburg, A.B.P.; et al. Pharmacokinetics of bolus 5-fluorouracil: relationship between dose, plasma concentrations, area-under-the-curve and toxicity. J. Chemother., 2005, 17, 315-320.
17. Schalhorn, A.; Peyerl, G.; Denecke, H. Pharmacokinetics of 5-fluorouracil during isolated liver perfusion. Regional Cancer Treatment, 1988, 1, 21-27.
18. Busse, D.; Busch, F.W.; Bohnenstengel, F.; Eichelbaum, M.; Fischer, P.; et al. Dose escalation of cyclophosphamide in patients with breast cancer: consequences for pharmacokinetics and metabolism. J. Clin. Oncol., 1979, 15, 1885-1896.
19. Rothenberg, M.L.; Oza, A .M.; Bigelow, R.H.; Berlin, J.D.; Marshall, J.L.; et al. Superiority of oxaliplatin and fluorouracil-leucovorin compared with either therapy alone in patients with progressive colorectal cancer after irinotecan and fluorouracil-leucovorin: interim results of a phase III trial. J. Clin. Oncol., 2003, 21, 2059-2069.
20. Diasio, R.B.; Beavers, T.L.; Carpenter, J.T. Familial deficiency of dihydropyrimidine dehydrogenase. Biochemical basis for familial pyrimidinemia and severe 5-fluorouracil-induced toxicity. J. Clin. Invest., 1988, 81, 47-51.
21. Johnson, M.R.; Diasio, R.B. Importance of dihydropyrimidine dehydrogenase (DPD) deficiency in patients exhibiting toxicity following treatment with 5-fluorouracil. Adv. Enzyme Regul., 2001, 41, 151-157.
22. Mattison, L.K.; Ezzeldin, H.; Carpenter, M.; Modak, A.; Johnson, M.R.; Diasio, R.B. Rapid identification of dihydropyrimidine dehydrogenase deficiency by using a novel 2-13C-uracil breath test. Clin. Cancer Res., 2004, 10, 2652-2658.
23. Wei, X.; McLeod, H.L.; McMurrough, J.; Gonzalez, F.J. Molecular basis of the human dihydropyrimidine dehydrogenase deficiency and 5-fluorouracil toxicity. J. Clin. Invest., 1996, 98, 610-615.
24. Vreken, P.; van Kuilenburg, A.B.P.; Meinsma, J.R.; Smit, G.P.A.; Bakker, H.D.; et al. A point mutation in an invariant splice donor site leads to exon skipping in two unrelated Dutch patients with dihydropyrimidine dehydrogenase deficiency. J. Inherit. Metab. Dis., 1996, 19, 645-654.
25. Bocci, G.; Barbara, C.; Vannozzi, F.; Di, P.A.; Melosi, A.; Barsanti, G.; et al. A pharmacokinetic-based test to prevent severe 5-fluorouracil toxicity. Clin. Pharmacol. Ther., 2006, 80, 384-395.
26. van Kuilenburg, A.B.P.; Meinsma, J.R.; Zoetekouw, L.; van Gennip, A.H. Increased risk of grade IV neutropenia after administration of 5-fluorouracil due to a dihydropyrimidine dehydrogenase deficiency: high prevalence of the IVS14+1g>a mutation. Int. J. Cancer, 2002, 101, 253-258.