Heterozygosity for a point mutation in an invariant splice donor site of dihydropyrimidine dehydrogenase and severe 5-fluorouracil related toxicity

European Journal of Cancer

Volumn 33, Issue 13, 1997, Pages 2258-2264

  Van Kuilenburg, A B P ^a   Vreken, P ^a   Beex, L V A M ^b   Meinsma, R ^a   Van Lenthe, H ^a   De Abreu, R A ^b   Van Gennip, A H ^a  

^a UNIVERSITY OF AMSTERDAM   (Netherlands)

^b RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

5 fluorouracil; Cardiotoxicity; Dihydropyrimidine dehydrogenase; Exon skipping; Hyperpigmentation

Indexed keywords

ADENINE; COMPLEMENTARY DNA; DIHYDROPYRIMIDINE DEHYDROGENASE; FLUOROURACIL; GUANINE; MESSENGER RNA; PAMIDRONIC ACID; TAMOXIFEN;

AGED; ARTICLE; BREAST CARCINOMA; CASE REPORT; CONTROLLED STUDY; ENZYME ACTIVITY; FEMALE; GASTROINTESTINAL TOXICITY; HETEROZYGOSITY; HUMAN; HUMAN CELL; HYPOKALEMIA; INTRAVENOUS DRUG ADMINISTRATION; LEUKOPENIA; POINT MUTATION; PRIORITY JOURNAL;

ANTIMETABOLITES, ANTINEOPLASTIC; CELL CULTURE TECHNIQUES; DIHYDROURACIL DEHYDROGENASE (NADP); FEMALE; FIBROBLASTS; FLUOROURACIL; GENE EXPRESSION; HEART DISEASES; HETEROZYGOTE; HUMANS; LEUKOCYTES; MIDDLE AGED; OXIDOREDUCTASES; POINT MUTATION; POLYMERASE CHAIN REACTION; RNA, MESSENGER;

EID: 0031418165     PISSN: 09598049     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0959-8049(97)00261-X     Document Type: Article

References (39)

1. Van Gennip AH, Abeling NGGM, Stroomer AEM, Van Lenthe H, Bakker HD. Clinical and biochemical findings in six patients with pyrimidine degradation defects. J Inker Metab Dis 1994, 17, 130-132.
2. Van Gennip AH, Busch S, Elzinga L, et al. Application of simple chromatographic methods for the diagnosis of defects in pyrimidine degradation. Clin Chem 1993, 39, 380-385.
3. Bakkeren JAJM, De Abreu RA, Sengers RCA, Gabreëls FJM, Maas JM, Renier WO. Elevated urine, blood and cerebrospinal fluid levels of uracil and thymine in a child with dihydrothymine dehydrogenase deficiency. Clin Chim Acta 1984, 140, 247-256.
4. Meinsma R, Fernandez-Salguero P, Van Kuilenburg ABP, Van Gennip AH, Gonzalez FJ. Human polymorphism in drug metabolism: mutation in the dihydropyrimidine dehydrogenase gene results in exon skipping and thymine uraciluria. DNA Cell Biol 1995, 14, 1-6.
5. Vreken P, Van Kuilenburg ABP, Meinsma R, Van Gennip AH. Identification of novel point mutations in the dihydropyrimidine dehydrogenase gene. J Inker Metab Dis 1996, 19(Suppl. 1), 8.
6. Vreken P, Van Kuilenburg ABP, Meinsma R, 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 Inker Metab Dis 1996, 19, 645-654.
7. Heggie GD, Sommadossi J-P, Cross DS, Huster WJ, Diasio RB. Clinical pharmacokinetics of 5-fluorouracil and its metabolism in plasma, urine, and bile. Cancer Res 1987, 47, 2203-2206.
8. Daher GC, Naguib FNM, el Kouni MH, Zhang R, Soong SJ, Diasio RB. Inhibition of fluoropyrimidine catabolism by benzyloxybenzyluracil. Biochem Pharmacol 1991, 41, 1887-1893.
9. Iigo M, Araki E, Nakajima Y, Hoshi A, De Clercq E. Enhancing effect of bromovinyldeoxyuridine on antitumor activity of 5-fluorouracil against adenocarcinoma 755 in mice. Biochem Pharmacol 1988, 37, 1609-1613.
10. Spector T, Harrington JA, Porter DJT. 5-Ethynyluracil (776C85): inactivation of dihydropyrimidine dehydrogenase in vivo. Biochem Pharmacol 1993, 46, 2243-2248.
11. Tuchman M, Stoeckeler JS, Kiang DT, O'Dea RF, Ramnaraine ML, Mirkin BL. Familial pyrimidinemia and pyrimidinuria associated with severe fluorouracil toxicity. New Engl J Med 1985, 313, 245-249.
12. Diasio RB, Beavers TL, Carpenter JT. Familial deficiency of dihydropyrimidine dehydrogenase, biochemical basis for familial pyrimidinemia and severe 5-fluorouracil-induced toxicity. J Clin Invest 1988, 81, 47-51.
13. Harris BE, Carpenter JT, Diasio RB. Severe 5-fluorouracil toxicity secondary to dihydropyrimidine dehydrogenase deficiency. Cancer 1991, 68, 499-501.
14. Houyau P, Gay C, Chatelut E, Canal P, Roché H, Milano G. Severe fluorouracil toxicity in a patient with dihydropyrimidine dehydrogenase deficiency. J Natl Cancer Inst 1993, 85, 1602-1603.
15. Fleming RA, Milano GA, Gaspard MH, et al. Dihydropyrimidine dehydrogenase activity in cancer patients. Eur J Cancer 1993, 29A, 740-744.
16. Lyss AP, Lilenbaum RC, Harris BE, Diasio RB. Severe 5-fluorouracil toxicity in a patient with decreased dihydropyrimidine dehydrogenase activity. Cancer Invest 1993, 11, 239-240.
17. Lu Z, Zhang R, Diasio RB. 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 1993, S3, 5433-5438.
18. Stephan F, Etienne MC, Wallays C, Milano G, Clergue F. Depressed hepatic dihydropyrimidine dehydrogenase activity and fluorouracil-related toxicities. Am J Med 1995, 99, 685-688.
19. Beuzeboc P, Pierga J-Y, Stoppa-Lyonnet D, Etienne MC, Milano G, Fouillait P. Severe 5-fluorouracil toxicity possibly secondary to dihydropyrimidine dehydrogenase deficiency in a breast cancer patient with osteogenesis imperfecta. Eur J Cancer 1996, 32A, 370-371.
20. Fernandez-Salguero P, Gonzalez FJ, Etienne MC, Milano G, Kimura S. Correlation between catalytic activity and protein content for the polymorphically expressed dihydropidine dehydrogenase in human lymphocytes. Biochem Pharmacol 1995, 50, 1015-1020.
21. Milano G, Etienne MC. Dihydropyrimidine dehydrogenase (DPD) and clinical pharmacology of 5-fluorouracil (review). Anticancer Res 1994, 14, 2295-2298.
22. Milano G, Etienne MC. Potential importance of dihydropyrimidine dehydrogenase (DPD) in cancer chemotherapy. Pharmacogenetics 1994, 4, 301-306.
23. Etienne MC, Lagrange JL, Dassonville O, et al. Population study of dihydropyrimidine dehydrogenase in cancer patients. J Clin Oncol 1994, 12, 2248-2253.
24. Wei X, McLeod HL, McMurrough J, Gonzalez FJ, Fernandez-Salguero P. Molecular basis of the human dihydropyrimidine dehydrogenase deficiency and 5-fluorouracil toxicity. J Clin Invest 1996, 3, 610-615.
25. Smith PK, Krohn RI, Hermanson GT, et al. Measurement of protein using bicinchoninic acid. Anal Biochem 1985, 150, 76-85.
26. Van Kuilenburg ABP, Van Lenthe H, Van Gennip AH. Identification and tissue-specific expression of a NADH-dependent activity of dihydropyrimidine dehydrogenase in man. Anticancer Res 1996, 16, 389-394.
27. Chomczynski P, Sacchi N. Single step method of RNA isolation by acid guanidium thiocyanate-phenol-chloroform extraction. Anal Biochem 1987, 162, 156-159.
28. Hoar DI. Molecular diagnosis: new horizons in medicine. Can Fam Physician 1987, 33, 401-404.
29. Yokota H, Fernandez-Salguero P, Furuya H, et al. DNA cloning and chromosome mapping of human dihydropyrimidine dehydrogenase, an enzyme associated with 5-fluorouracil toxicity and congenital thymine uraciluria. J Biol Chem 1994, 269, 23192-23196.
30. Perlin E, Ahlgren JD. Pigmentary effects from the protracted infusion of 5-fluorouracil. Int J Dermatol 1991, 30, 43-44.
31. Freeman NJ, Costanza ME. 5-Fluorouracil-associated cardiotoxicity. Cancer 1988, 61, 36-45.
32. Keefe DL, Roistacher N, Pierri MK. Clinical cardiotoxicity of 5-fluorouracil. J Clin Pharmacol 1993, 33, 1060-1070.
33. Queener SF, Morris HP, Weber G. Dihydrouracil dehydrogenase activity in normal, differentiating and regenerating liver and in hepatomas. Cancer Res 1971, 31, 1004-1009.
34. Hashimoto Y, Shiotani T, Fujita J, et al. Reversal of enzymic phenotype of thymidine metabolism in induced differentiation of HL-60 cells. Leukemia Res 1989, 13, 1123-1129.
35. Shiotani T, Hashimoto Y, Fujita J, el al. Reversal of enzymic phenotype of thymidine metabolism in induced-differentiation of U-937 cells. Cancer Res 1989, 49, 6758-6763.
36. Heukels-Dully MJ, Niermeijer MF. Variation in lysosomal activity during growth in culture of human fibroblasts and amniotic fluid cells. Exp Cell Res 1976, 97, 304-312.
37. Van Gennip AH, Van Lenthe H, Abeling NGGM, Bakker HD, Van Kuilenburg ABP. Combined deficiencies of NADPH- and NADH-dependent dihydropyrimidine dehydrogenases, a new finding in a family with thymine-uraciluria. J Inker Metab Dis 1995, 18, 185-188.
38. Naguib FNM, el Kouni MH, Cha S. Enzymes of uracil catabolism in normal and neoplastic human tissues. Cancer Res 1985, 45, 5405-5412.
39. Ho DH, Townsend L, Luna MA, Bodey GP. Distribution and inhibition of dihydrouracil dehydrogenase activities in human tissues using 5-fluorouracil as a substrate. Anticancer Res 1986, 6, 781-784.