Pitfalls in the diagnosis of patients with a partial dihydropyrimidine dehydrogenase deficiency

Clinical Chemistry

Volumn 46, Issue 1, 2000, Pages 9-17

  Van Kuilenburg, André B P ^a,b   Van Lenthe, Hen ^a   Tromp, Annelies ^a   Veltman, Patricia C J ^a   Van Gennip, Albert H ^a  

^a UNIVERSITY OF AMSTERDAM   (Netherlands)

^b ACADEMIC MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

DIHYDROPYRIMIDINE DEHYDROGENASE; FLUOROURACIL; PROTEIN; THYMINE; URACIL;

ARTICLE; CONTROLLED STUDY; ENZYME ACTIVITY; ENZYME DEFICIENCY; FIBROBLAST; HUMAN; HUMAN CELL; LEUKOCYTE; REVERSED PHASE HIGH PERFORMANCE LIQUID CHROMATOGRAPHY;

EID: 0033967318     PISSN: 00099147     EISSN: None     Source Type: Journal    
DOI: 10.1093/clinchem/46.1.9     Document Type: Article

References (34)

1. 1. Van Kuilenburg ABP, Vreken P, Abeling NGGM, Bakker HD, Meinsma R, Van Lenthe H, et al. Genotype and phenotype in patients with dihydropyrimidine dehydrogenase deficiency. Hum Genet 1999; 104:1-9.
2. 2. Van Gennip AH, Abeling NGGM, Vreken P, Van Kuilenburg ABP. Inborn errors of pyrimidine degradation: clinical, biochemical and molecular aspects. J Inherit Metab Dis 1997;20:203-13.
3. 3. Van Gennip AH, Busch S, Elzinga L, Stroomer AEM, Van Cruchten A, Schölten EG, Abeling NGGM. Application of simple chromatographie methods for the diagnosis of defects in pyrimidine degradation. Clin Chem 1993;39:380-5.
4. 4. Van Gennip AH, Abeling NGGM, Stroomer AEM, Van Lenthe H, Bakker HD. Clinical and biochemical findings in six patients with pyrimidine degradation defects. J Inherit Metab Dis 1994;17: 130-2.
5. 5. 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;140:247-56.
6. 6. 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;47:2203-6.
7. 7. Fleming RA, Milano G, Thyss A, Etienne M-C, Renée N, Schneider M, Demard F. Correlation between dihydropyrimidine dehydrogenase activity in peripheral mononuclear cells and systemic clearance of fluorouracil in cancer patients. Cancer Res 1992;52: 2899-902.
8. 8. Etienne MC, Lagrange JL, Dassonville O, Fleming R, Thyss A, Renée N, et al. Population study of dihydropyrimidine dehydrogenase in cancer patients. J Clin Oncol 1994;12:2248-53.
9. 9. 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 Investig 1996; 3:610-5.
10. 10. Van Kuilenburg ABP, Vreken P, Beex LVAM, Meinsma R, Van Lenthe H, De Abreu RA, Van Gennip AH. Heterozygosity for a point mutation in an invariant splice donor site of dihydropyrimidine dehydrogenase and severe 5-fluorouracil related toxicity. Eur J Cancer 1997;33:2258-64.
11. 11. Van Kuilenburg ABP, Vreken P, Beex LVAM, De Abreu RA, Van Gennip AH. Severe 5-fluorouracil toxicity caused by reduced dihydropyrimidine dehydrogenase activity due to heterozygosity for a G→A point mutation. J Inherit Metab Dis 1998;21:280-4.
12. 12. Kouwaki M, Hamajima N, Sumi S, Nonaka M, Sasaki M, Dobashi K, et al. Identification of novel mutations in the dihydropyrimidine dehydrogenase gene in a Japanese patient with 5-fluorouracil toxicity. Clin Cancer Res 1998;4:2999-3004.
13. 13. Fernandez-Salguero P, Gonzalez FJ, Etienne MC, Milano G, Kimura S. Correlation between catalytic activity and protein content for the polymorphically expressed dihydropyrimidine dehydrogenase in human lymphocytes. Biochem Pharmacol 1995;50:1015-20.
14. 14. 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;53:5433-8.
15. 15. Katona C, Kralovánszky J, Rosta A, Pandi E, Fónyad G, Tóth K, Jeney A. Putative role of dihydropyrimidine dehydrogenase in the toxic side effect of 5-fluorouracil in colorectal cancer patients. Oncology 1998;55:468-74.
16. 16. Naguib FNM, el Kouni MH, Cha S. Enzymes of uracil catabolism in normal and neoplastic human tissues. Cancer Res 1985;45: 5405-12.
17. 17. Van Kuilenburg ABP, Van Lenthe H, Blom MJ, Mul EPJ, Van Gennip AH. Profound variation in dihydropyrimidine dehydrogenase activity in human blood cells: major implications for the detection of partly deficient patients. Br J Cancer 1999;79:620-6.
18. 18. Smith PK, Krohn RI, Hermanson GT, Mallia AK, Gartner FH, Provenzano MD, et al. Measurement of protein using bicinchoninic acid. Anal Biochem 1985;150:76-85.
19. 19. Sommadossi J-P, Gewirtz DA, Diasio RB, Aubert C, Cano J-P, Goldman ID. Rapid catabolism of 5-fluorouracil in freshly isolated rat hepatocytes as analyzed by high performance liquid chromatography. J Biol Chem 1982;257:8171-6.
20. 20. Johnson MR, Yan J, Shao L, Albin N, Diasio RB. Semi-automated radioassay for determination of dihydropyrimidine dehydrogenase (DPD) activity. Screening cancer patients for DPD deficiency, a condition associated with 5-fluorouracil toxicity. J Chromatogr B 1997;696:183-91.
21. 21. Spector T, Harrington JA, Porter DJT. 5-Ethynyluracil (776C85): inactivation of dihydropyrimidine dehydrogenase in vivo. Biochem Pharmacol 1993;46:2243-8.
22. 22. Meta-Analysis Group in Cancer. Efficacy of intravenous continuous infusion of 5-fluorouracil compared with bolus administration in advanced colorectal cancer. J Clin Oncol 1998;16:301-8.
23. 23. Milano G, Etienne MC, Renée N, Thyss A, Schneider M, Ramaioli A, Demard F. Relationship between fluorouracil systemic exposure and tumor response and patient survival. J Clin Oncol 1994;12: 1291-5.
24. 24. Gamelin EC, Danquechin-Dorval EM, Dumesnil YF, Maillart PJ, Goudier MJ, Burtin PC, et al. Relationship between 5-fluorouracil (5-FU) dose intensity and therapeutic response in patients with advanced colorectal cancer receiving infusional therapy containing 5-FU. Cancer 1996;77:441-51.
25. 25. Meta-Analysis Group in Cancer. Toxicity of fluorouracil in patients with advanced colorectal cancer: effect of administration schedule and prognostic factors. J Clin Oncol 1998;16:3537-41.
26. 26. 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 Inherit Metab Dis 1995;18:185-8.
27. 27. Harris BE, Carpenter JT, Diasio RB, Severe 5-fluorouracil toxicity secondary to dihydropyrimidine dehydrogenase deficiency. Cancer 1991;68:499-501.
28. 28. Kaffenberger W, Hölzer-Müller L, Auberger T, Clasen BPE, Hohlmeier G, Van Beuningen D. An immunological outcome predictive score for head and neck carcinoma patients. Strahlenther Onkol 1995;171:444-53.
29. 29. Ferrante A, Thong YH. Optimal conditions for simultaneous purification of mononuclear and polymorphonuclear leukocytes from human blood by the Hypaque-Ficoll method. J Immunol Methods 1980;36:109-17.
30. 30. Schlenke P, Klüter H, Müller-Steinhardt M, Hammers H-J, Borchert K, Bein G. Evaluation of a novel mononuclear cell isolation procedure for serological HLA typing. Clin Diagn Lab Immunol 1998;5:808-13.
31. 31. Berends C, Dijkhuizen B, de Monchy JGR, Gerritsen J, Kauffman HF. Induction of low density and up-regulation of CD11b expression of neutrophils and eosinophils by dextran sedimentation and centrifugation. J Immunol Methods 1994;167:183-93.
32. 32. Weiblen BJ, Debell K, Valeri CR. "Acquired immunodeficiency" of blood stored overnight. New Engl J Med 1983;309:793.
33. 33. Braakhekke JP, Renier WO, Gabreëls FJM, De Abreu RA, Bakkeren JAJM, Sengers RCA. Dihydropyrimidine dehydrogenase deficiency. Neurological aspects. J Neurol Sci 1987;78:71-7.
34. 34. Queener SF, Morris HP, Weber G. Dihydrouracil dehydrogenase activity in normal, differentiating and regenerating liver and in hepatomas. Cancer Res 1971;31:1004-9.