Clinical validity of a DPYD-based pharmacogenetic test to predict severe toxicity to fluoropyrimidines

International Journal of Cancer

Volumn 137, Issue 12, 2015, Pages 2971-2980

  Toffoli, Giuseppe ^a   Giodini, Luciana ^a   Buonadonna, Angela ^a   Berretta, Massimiliano ^a   De Paoli, Antonino ^a   Scalone, Simona ^a   Miolo, Gianmaria ^a   Mini, Enrico ^b   Nobili, Stefania ^c   Lonardi, Sara ^d   Pella, Nicoletta ^e   Lo Re, Giovanni ^f   Montico, Marcella ^a   Roncato, Rossana ^a   Dreussi, Eva ^a   Gagno, Sara ^a   Cecchin, Erika ^a  

^a CENTRO DI RIFERIMENTO ONCOLOGICO   (Italy)

^b UNIVERSITY OF FLORENCE   (Italy)

^c UNIVERSITY OF FLORENCE   (Italy)

^d VENETO INSTITUTE OF ONCOLOGY IOV IRCCS   (Italy)

^e University Hospital   (Italy)

^f S MARIA DEGLI ANGELI HOSPITAL   (Italy)

Author keywords

cancer; chemotherapy; dihydropyrimidine dehydrogenase; fluoropyrimidines; pharmacogenetics; polymorphism; toxicity

Indexed keywords

CAPECITABINE; CISPLATIN; CYCLOPHOSPHAMIDE; DOCETAXEL; FLUOROPYRIMIDINE; FLUOROURACIL; FOLINIC ACID; IRINOTECAN; METHOTREXATE; OXALIPLATIN; ANTINEOPLASTIC ANTIMETABOLITE; DIHYDROPYRIMIDINE DEHYDROGENASE;

ADOLESCENT; ADULT; AGED; ALOPECIA; ANEMIA; ARTICLE; ASTHENIA; BLOOD TOXICITY; BREAST CANCER; COLON CANCER; CONTINUOUS INFUSION; CYSTITIS; DIARRHEA; DPYD GENE; ENTERITIS; FEMALE; GENE; GENE FREQUENCY; GENETIC ANALYSIS; GENETIC POLYMORPHISM; GENETIC VARIABILITY; GENOTYPE; HUMAN; INCIDENCE; LEUKOPENIA; LIVER TOXICITY; MAJOR CLINICAL STUDY; MALE; MEDICATION COMPLIANCE; MUCOSA INFLAMMATION; MULTIPLE CYCLE TREATMENT; NASOPHARYNX CANCER; NAUSEA; NEUROTOXICITY; NEUTROPENIA; PHARMACOGENETICS; PIASTRINOPENIA; PREDICTION; PRIORITY JOURNAL; RECTUM CANCER; RECTUM HEMORRHAGE; RETROSPECTIVE STUDY; SINGLE NUCLEOTIDE POLYMORPHISM; STOMACH CANCER; STOMATITIS; THROMBOCYTOPENIA; VALIDATION STUDY; VERY ELDERLY; VOMITING; GENETIC SCREENING; GENETICS; MIDDLE AGED; NEOPLASMS; YOUNG ADULT;

ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; ANTIMETABOLITES, ANTINEOPLASTIC; DIHYDROURACIL DEHYDROGENASE (NADP); FEMALE; FLUOROURACIL; GENETIC TESTING; HUMANS; MALE; MIDDLE AGED; NEOPLASMS; POLYMORPHISM, SINGLE NUCLEOTIDE; YOUNG ADULT;

EID: 84943597799     PISSN: 00207136     EISSN: 10970215     Source Type: Journal    
DOI: 10.1002/ijc.29654     Document Type: Article

References (37)

1. Caudle KE, Thorn CF, Klein TE, et al., Clinical Pharmacogenetics Implementation Consortium guidelines for dihydropyrimidine dehydrogenase genotype and fluoropyrimidine dosing. Clin Pharmacol Ther 2013; 94: 640-5
2. Meyerhardt JA, Mayer RJ., Systemic therapy for colorectal cancer. N Engl J Med 2005; 352: 476-87
3. Rosmarin D, Palles C, Pagnamenta A, et al., A candidate gene study of capecitabine-related toxicity in colorectal cancer identifies new toxicity variants at DPYD and a putative role for ENOSF1 rather than TYMS. Gut 2015; 64: 111-20
4. Saltz LB, Niedzwiecki D, Hollis D, et al., Irinotecan fluorouracil plus leucovorin is not superior to fluorouracil plus leucovorin alone as adjuvant treatment for stage III colon cancer: results of CALGB 89803. J Clin Oncol 2007; 25: 3456-61
5. Sherry ST, Ward MH, Kholodov M, et al., dbSNP: the NCBI database of genetic variation. Nucleic Acids Res 2001; 29: 308-11
6. Database of Single Nucleotide Polymorphisms (dbSNP). Bethesda (MD): National Center for Biotechnology Information, National Library of Medicine. (dbSNP Build ID: human 138). Available at: http://www.ncbi.nlm.nih.gov/projects/SNP/snp-ref.cgi?showRare=on&chooseRs=coding&go=Go&locusId=1806. Accessed April 24, 2015
7. Jennings BA, Loke YK, Skinner J, et al., Evaluating predictive pharmacogenetic signatures of adverse events in colorectal cancer patients treated with fluoropyrimidines. PLoS One 2013; 8: e78053
8. Lee AM, Shi Q, Pavey E, et al., DPYD variants as predictors of 5-fluorouracil toxicity in adjuvant colon cancer treatment (NCCTG N0147). J Natl Cancer Inst 2014; 106: dju298
9. Deenen MJ, Tol J, Burylo AM, et al., Relationship between single nucleotide polymorphisms and haplotypes in DPYD and toxicity and efficacy of capecitabine in advanced colorectal cancer. Clin Cancer Res 2011; 17: 3455-68
10. Loganayagam A, Arenas Hernandez M, Corrigan A, et al., Pharmacogenetic variants in the DPYD, TYMS, CDA and MTHFR genes are clinically significant predictors of fluoropyrimidine toxicity. Br J Cancer 2013; 108: 2505-15
11. Froehlich TK, Amstutz U, Aebi S, et al., Clinical importance of risk variants in the dihydropyrimidine dehydrogenase gene for the prediction of early-onset fluoropyrimidine toxicity. Int J Cancer 2015; 136: 730-9
12. Caudle KE, Klein TE, Hoffman JM, et al., Incorporation of pharmacogenomics into routine clinical practice: the Clinical Pharmacogenetics Implementation Consortium (CPIC) guideline development process. Curr Drug Metab 2014; 15: 209-17
13. Caudle KE, Rettie AE, Whirl-Carrillo M, et al., Clinical Pharmacogenetics Implementation Consortium Guidelines for CYP2C9 and HLA-B Genotypes and Phenytoin Dosing. Clin Pharmacol Ther 2014; 96: 542-8
14. Swen JJ, Nijenhuis M, de Boer A, et al., Pharmacogenetics: from bench to byte-an update of guidelines. Clin Pharmacol Ther 2011; 89: 662-73
15. Offer SM, Wegner NJ, Fossum C, et al., Phenotypic profiling of DPYD variations relevant to 5-fluorouracil sensitivity using real-time cellular analysis and in vitro measurement of enzyme activity. Cancer Res 2013; 73: 1958-68
16. Innocenti E., DPYD variants to predict 5-FU toxicity: the ultimate proof. J Natl Cancer Inst 2014; 106: dju351
17. Terrazzino S, Cargnin S, Del Re M, et al., DPYD IVS14+1G>A and 2846>T genotyping for the prediction of severe fluoropyrimidine-related toxicity: a meta-analysis. Pharmacogenomics 2013; 14: 1255-72
18. Rosmarin D, Palles C, Church D, et al., Genetic markers of toxicity from capecitabine and other fluorouracil-based regimens: investigation in the QUASAR2 study, systematic review, and meta-analysis. J Clin Oncol 2014; 10: 1031-9
19. Deenen MJ, Schellens JH, Cats A., SNPs and Haplotypes in DPYD and outcome of capecitabine-response. Clin Cancer Res 2011; 17: 5835
20. Offer SM, Fossum CC, Wegner NJ, et al., Comparative functional analysis of DPYD variants of potential clinical relevance to dihydropyrimidine dehydrogenase activity. Cancer Res 2014; 74: 2545-54
21. Kristensen MH, Pedersen PL, Melsen GV, et al., Variants in the dihydropyrimidine dehydrogenase, methylenetetrahydrofolate reductase and thymidylate synthase genes predict early toxicity of 5-fluorouracil in colorectal cancer patients. J Int Med Res 2010; 38: 870-83
22. Teh LK, Hamzah S, Hashim H, et al., Potential of dihydropyrimidine dehydrogenase genotypes in personalizing 5-fluorouracil therapy among colorectal cancer patients. Ther Drug Monit 2013; 35: 624-30
23. Schwab M, Zanger UM, Marx C, et al., German 5-FU Toxicity Study Group. Role of genetic and nongenetic factors for fluorouracil treatment-related severe toxicity: a prospective clinical trial by the German 5-FU Toxicity Study Group. J Clin Oncol 2008; 26: 2131-8
24. Gross E, Busse B, Riemenschneider M, et al., Strong association of a common dihydropyrimidine dehydrogenase gene polymorphism with fluoropyrimidine-related toxicity in cancer patients. PLoS One 2008; 3: e4003
25. Meta-Analysis Group in Cancer, Piedbois P, Rougier P, Buyse M, et al., Efficacy of intravenous continuous infusion of fluorouracil compared with bolus administration in advanced colorectal cancer. J Clin Oncol 1998; 16: 301-6
26. Wei X, McLeod HL, McMurrough J, et al., Molecular basis of the human dihydropyrimidine dehydrogenase deficiency and 5-fluorouracil toxicity. J Clin Invest 1996; 98: 610 -1 5
27. van Kuilenburg AB., Dihydropyrimidine dehydrogenase and the efficacy and toxicity of 5-fluorouracil. Eur J Cancer 2004; 40: 939-50
28. van Kuilenburg AB, Meinsma R, Zonnenberg BA, et al., Dihydropyrimidinase deficiency and severe 5-fluorouracil toxicity. Clin Cancer Res 2003; 9: 4363-7
29. Catapano O, Barletta O, Paolo Di, et al., Impact of DPYD variants in fluoropyrimidine based-therapy: the state of the art. Wcrj 2014; 1: e279
30. van Kuilenburg AB, 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: 4705-12
31. Di Francia R, Valente D, Pugliese S, et al., What health professions in oncology needs to know about pharmacogenomics? Wcrj 2014; 1: e90
32. Offer SM, Lee AM, Mattison LK, et al., A DPYD variant (Y186C) in individuals of african ancestry is associated with reduced DPD enzyme activity. Clin Pharmacol Ther 2013; 94: 158-66
33. Johnson MR, Wang K, Diasio RB., Profound dihydropyrimidine dehydrogenase deficiency resulting from a novel compound heterozygote genotype. Clin Cancer Res 2002; 8: 768-74
34. de Gramont A, Figer A, Seymour M, et al., Leucovorin and fluorouracil with or without oxaliplatin as first-line treatment in advanced colorectal cancer. J Clin Oncol 2000; 18: 2938-47
35. van Staveren MC, Guchelaar HJ, van Kuilenburg AB, et al., Evaluation of predictive tests for screening for dihydropyrimidine dehydrogenase deficiency. Pharmacogenomics J 2013; 13: 389-95
36. Opdam FL, Swen JJ, Wessels JA, et al., SNPs and haplotypes in DPYD and outcome of capecitabine-Letter. Clin Cancer Res 2011; 17: 5833-4
37. Gillis NK, Innocenti F., Evidence required to demonstrate clinical utility of pharmacogenetic testing: the debate continues. Clin Pharmacol Ther 2014; 96: 655-7