UGT1A1 gene polymorphism: Impact on toxicity and efficacy of irinotecan-based regimens in metastatic colorectal cancer

World Journal of Gastroenterology

Volumn 15, Issue 40, 2009, Pages 5058-5066

  Schulz, Christoph ^a   Heinemann, Volker ^a   Schalhorn, Andreas ^a   Moosmann, Nikolas ^a   Zwingers, Thomas ^b   Boeck, Stefan ^a   Giessen, Clemens ^a   Stemmler, Hans Joachim ^a  

^a LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

^b Fa Estimate GmbH Augsburg   (Germany)

Author keywords

Colorectal cancer; Delayed diarrhoea; Efficacy; Gene polymorphism; Irinotecan; Neutropenia; Toxicity; UGT1A1

Indexed keywords

FLUOROURACIL; FOLINIC ACID; GLUCURONOSYLTRANSFERASE 1A1; IRINOTECAN; OXALIPLATIN;

ADULT; AGED; ARTICLE; BLOOD SAMPLING; CANCER CHEMOTHERAPY; CANCER GROWTH; CANCER SURVIVAL; COLORECTAL CANCER; CONSTIPATION; CONTROLLED STUDY; DIARRHEA; DRUG DOSE REDUCTION; DRUG EFFICACY; FEBRILE NEUTROPENIA; FEMALE; GENE SEQUENCE; GENETIC POLYMORPHISM; GENOTYPE; HAND FOOT SYNDROME; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; LEUKOPENIA; LOW DRUG DOSE; MAJOR CLINICAL STUDY; MALE; METASTASIS; MUCOSA INFLAMMATION; NAUSEA; OVERALL SURVIVAL; PARESTHESIA; PROMOTER REGION; TATA BOX; THROMBOCYTOPENIA; TREATMENT RESPONSE; VOMITING; WILD TYPE;

EID: 73449111242     PISSN: 10079327     EISSN: None     Source Type: Journal    
DOI: 10.3748/wjg.15.5058     Document Type: Article

References (42)

1. Garcia-Carbonero R, Supko JG. Current perspectives on the clinical experience, pharmacology, and continued development of the camptothecins. Clin Cancer Res 2002; 8: 641-661
2. Ulukan H, Swaan PW. Camptothecins: a review of their chemotherapeutic potential. Drugs 2002; 62: 2039-2057
3. Saltz LB, Cox JV, Blanke C, Rosen LS, Fehrenbacher L, Moore MJ, Maroun JA, Ackland SP, Locker PK, Pirotta N, Elfring GL, Miller LL. Irinotecan plus fluorouracil and leucovorin for metastatic colorectal cancer. Irinotecan Study Group. N Engl J Med 2000; 343: 905-914
4. Folprecht G, Köhne CH. The role of new agents in the treatment of colorectal cancer. Oncology 2004; 66: 1-17
5. Kawato Y, Aonuma M, Hirota Y, Kuga H, Sato K. Intracellular roles of SN-38, a metabolite of the camptothecin derivative CPT-11, in the antitumor effect of CPT-11. Cancer Res 1991; 51: 4187-4191
6. Vanhoefer U, Harstrick A, Achterrath W, Cao S, Seeber S, Rustum YM. Irinotecan in the treatment of colorectal cancer: clinical overview. J Clin Oncol 2001; 19: 1501-1518
7. Araki E, Ishikawa M, Iigo M, Koide T, Itabashi M, Hoshi A. Relationship between development of diarrhea and the concentration of SN-38, an active metabolite of CPT-11, in the intestine and the blood plasma of athymic mice following intraperitoneal administration of CPT-11. Jpn J Cancer Res 1993; 84: 697-702
8. Gupta E, Lestingi TM, Mick R, Ramirez J, Vokes EE, Ratain MJ. Metabolic fate of irinotecan in humans: correlation of glucuronidation with diarrhea. Cancer Res 1994; 54: 3723-3725
9. Bosma PJ. Inherited disorders of bilirubin metabolism. J Hepatol 2003; 38: 107-117
10. Monaghan G, Ryan M, Seddon R, Hume R, Burchell B. Genetic variation in bilirubin UPD-glucuronosyltransferase gene promoter and Gilbert's syndrome. Lancet 1996; 347: 578-581
11. Miners JO, McKinnon RA, Mackenzie PI. Genetic polymorphisms of UDP-glucuronosyltransferases and their functional significance. Toxicology 2002; 181-182: 453-456
12. Beutler E, Gelbart T, Demina A. Racial variability in the UDP-glucuronosyltransferase 1 (UGT1A1) promoter: a balanced polymorphism for regulation of bilirubin metabolism? Proc Natl Acad Sci USA 1998; 95: 8170-8174
13. Iyer L, Hall D, Das S, Mortell MA, Ramírez J, Kim S, Di Rienzo A, Ratain MJ. Phenotype-genotype correlation of in vitro SN-38 (active metabolite of irinotecan) and bilirubin glucuronidation in human liver tissue with UGT1A1 promoter polymorphism. Clin Pharmacol Ther 1999; 65: 576-582
14. Ando Y, Saka H, Ando M, Sawa T, Muro K, Ueoka H, Yokoyama A, Saitoh S, Shimokata K, Hasegawa Y. Polymorphisms of UDP-glucuronosyltransferase gene and irinotecan toxicity: a pharmacogenetic analysis. Cancer Res 2000; 60: 6921-6926
15. Iyer L, Das S, Janisch L, Wen M, Ramírez J, Karrison T, Fleming GF, Vokes EE, Schilsky RL, Ratain MJ. UGT1A1*28 polymorphism as a determinant of irinotecan disposition and toxicity. Pharmacogenomics J 2002; 2: 43-47
16. Innocenti F, Undevia SD, Iyer L, Chen PX, Das S, Kocherginsky M, Karrison T, Janisch L, Ramírez J, Rudin CM, Vokes EE, Ratain MJ. Genetic variants in the UDP-glucuronosyltransferase 1A1 gene predict the risk of severe neutropenia of irinotecan. J Clin Oncol 2004; 22: 1382-1388
17. Côté JF, Kirzin S, Kramar A, Mosnier JF, Diebold MD, Soubeyran I, Thirouard AS, Selves J, Laurent-Puig P, Ychou M. UGT1A1 polymorphism can predict hematologic toxicity in patients treated with irinotecan. Clin Cancer Res 2007; 13: 3269-3275
18. Rouits E, Boisdron-Celle M, Dumont A, Guérin O, Morel A, Gamelin E. Relevance of different UGT1A1 polymorphisms in irinotecan-induced toxicity: a molecular and clinical study of 75 patients. Clin Cancer Res 2004; 10: 5151-5159
19. Schalhorn A, Fischer von Weikersthal L, Quietzsch D, Maubach P, Oruzio D, Lambertz H, Weigang-Koehler K, Schulze M, Schlag R, Heinemann V. Phase III trial of irinotecan plus oxaliplatin (IROX) versus irinotecan plus 5-FU/folinic acid (FOLFIRI) as first-line treatment of metastatic colorectal cancer (CRC): The FIRE-TRIAL. ASCO Annual Meeting Proceedings, 2005: Abstract No. 3516
20. Kaplan EL, Meier P. Nonparametric estimation from incomplete observations. J Am Stat Assoc 1959; 53: 457-481
21. Kadakol A, Ghosh SS, Sappal BS, Sharma G, Chowdhury JR, Chowdhury NR. Genetic lesions of bilirubin uridine-diphosphoglucuronate glucuronosyltransferase (UGT1A1) causing Crigler-Najjar and Gilbert syndromes: correlation of genotype to phenotype. Hum Mutat 2000; 16: 297-306
22. Font A, Sánchez JM, Tarón M, Martinez-Balibrea E, Sánchez JJ, Manzano JL, Margelí M, Richardet M, Barnadas A, Abad A, Rosell R. Weekly regimen of irinotecan/docetaxel in previously treated non-small cell lung cancer patients and correlation with uridine diphosphate glucuronosyltransferase 1A1 (UGT1A1) polymorphism. Invest New Drugs 2003; 21: 435-443
23. Marcuello E, Altés A, Menoyo A, Del Rio E, Gómez-Pardo M, Baiget M. UGT1A1 gene variations and irinotecan treatment in patients with metastatic colorectal cancer. Br J Cancer 2004; 91: 678-682
24. Seymour MT, Braun MS, Richman SD, Daly C, Thompson LC, Meade A, Parmar M, Allan JM, Selby P, Quirke P, FOCUS Trial Investigators. Association of molecular markers with toxicity outcomes in a randomized trial of chemotherapy for advanced colorectal cancer (FOCUS). ASCO Annual Meeting Proceedings Part I (Abstract No. 2022). J Clin Oncol 2006; 24: 18S
25. Carlini LE, Meropol NJ, Bever J, Andria ML, Hill T, Gold P, Rogatko A, Wang H, Blanchard RL. UGT1A7 and UGT1A9 polymorphisms predict response and toxicity in colorectal cancer patients treated with capecitabine/irinotecan. Clin Cancer Res 2005; 11: 1226-1236
26. Massacesi C, Terrazzino S, Marcucci F, Rocchi MB, Lippe P, Bisonni R, Lombardo M, Pilone A, Mattioli R, Leon A. Uridine diphosphate glucuronosyl transferase 1A1 promoter polymorphism predicts the risk of gastrointestinal toxicity and fatigue induced by irinotecan-based chemotherapy. Cancer 2006; 106: 1007-1016
27. Liu CY, Chen PM, Chiou TJ, Liu JH, Lin JK, Lin TC, Chen WS, Jiang JK, Wang HS, Wang WS. UGT1A1*28 polymorphism predicts irinotecan-induced severe toxicities without affecting treatment outcome and survival in patients with metastatic colorectal carcinoma. Cancer 2008; 112: 1932-1940
28. Roth AD, Yan P, Dietrich D, Fiocca R, Bodoky G, Labianca R, Cunningham D, Van Cutsem E, Bosman F, Tejpar S. Is the UGT1A*28 homozygosity the strongest predictor for severe hematoxicity in patients with 5-fluorouracil (5-FU)-irinotecan (IRI)? Results of the PETACC 3 - EORTC 40993 - SAKK 60/00 trial comparing IRI/5-FU/folinic acid (FA) to 5-FU/FA in stage II - III colon cancer (COC) patients (Abstract No. 4036). J Clin Oncol 2008; 26
29. Stewart CF, Panetta JC, O'Shaughnessy MA, Throm SL, Fraga CH, Owens T, Liu T, Billups C, Rodriguez-Galindo C, Gajjar A, Furman WL, McGregor LM. UGT1A1 promoter genotype correlates with SN-38 pharmacokinetics, but not severe toxicity in patients receiving low-dose irinotecan. J Clin Oncol 2007; 25: 2594-2600
30. Hoskins JM, Goldberg RM, Qu P, Ibrahim JG, McLeod HL. UGT1A1*28 genotype and irinotecan-induced neutropenia: dose matters. J Natl Cancer Inst 2007; 99: 1290-1295
31. Douillard JY, Cunningham D, Roth AD, Navarro M, James RD, Karasek P, Jandik P, Iveson T, Carmichael J, Alakl M, Gruia G, Awad L, Rougier P. Irinotecan combined with fluorouracil compared with fluorouracil alone as first-line treatment for metastatic colorectal cancer: a multicentre randomised trial. Lancet 2000; 355: 1041-1047
32. Colucci G, Gebbia V, Paoletti G, Giuliani F, Caruso M, Gebbia N, Cartenì G, Agostara B, Pezzella G, Manzione L, Borsellino N, Misino A, Romito S, Durini E, Cordio S, Di Seri M, Lopez M, Maiello E, Montemurro S, Cramarossa A, Lorusso V, Di Bisceglie M, Chiarenza M, Valerio MR, Guida T, Leonardi V, Pisconti S, Rosati G, Carrozza F, Nettis G, Valdesi M, Filippelli G, Fortunato S, Mancarella S, Brunetti C. Phase III randomized trial of FOLFIRI versus FOLFOX4 in the treatment of advanced colorectal cancer: a multicenter study of the Gruppo Oncologico Dell'Italia Meridionale. J Clin Oncol 2005; 23: 4866-4875
33. Ashley AC, Sargent DJ, Alberts SR, Grothey A, Campbell ME, Morton RF, Fuchs CS, Ramanathan RK, Williamson SK, Findlay BP, Pitot HC, Goldberg RM. Updated efficacy and toxicity analysis of irinotecan and oxaliplatin (IROX) : intergroup trial N9741 in first-line treatment of metastatic colorectal cancer. Cancer 2007; 110: 670-677
34. Goldberg RM, Sargent DJ, Morton RF, Fuchs CS, Ramanathan RK, Williamson SK, Findlay BP, Pitot HC, Alberts SR. A randomized controlled trial of fluorouracil plus leucovorin, irinotecan, and oxaliplatin combinations in patients with previously untreated metastatic colorectal cancer. J Clin Oncol 2004; 22: 23-30
35. Toffoli G, Cecchin E, Corona G, Russo A, Buonadonna A, D'Andrea M, Pasetto LM, Pessa S, Errante D, De Pangher V, Giusto M, Medici M, Gaion F, Sandri P, Galligioni E, Bonura S, Boccalon M, Biason P, Frustaci S. The role of UGT1A1*28 polymorphism in the pharmacodynamics and pharmacokinetics of irinotecan in patients with metastatic colorectal cancer. J Clin Oncol 2006; 24: 3061-3068
36. Kweekel DM, Gelderblom H, Van der Straaten T, Antonini NF, Punt CJ, Guchelaar HJ. UGT1A1*28 genotype and irinotecan dosage in patients with metastatic colorectal cancer: a Dutch Colorectal Cancer Group study. Br J Cancer 2008; 99: 275-282
37. Mercke Odeberg J, Andrade J, Holmberg K, Hoglund P, Malmqvist U, Odeberg J. UGT1A polymorphisms in a Swedish cohort and a human diversity panel, and the relation to bilirubin plasma levels in males and females. Eur J Clin Pharmacol 2006; 62: 829-837
38. Iyer L, Ratain MJ. Clinical pharmacology of camptothecins. Cancer Chemother Pharmacol 1998; 42 Suppl: S31-S43
39. Ciotti M, Basu N, Brangi M, Owens IS. Glucuronidation of 7-ethyl-10-hydroxycamptothecin (SN-38) by the human UDP-glucuronosyltransferases encoded at the UGT1 locus. Biochem Biophys Res Commun 1999; 260: 199-202
40. Tukey RH, Strassburg CP, Mackenzie PI. Pharmacogenomics of human UDP-glucuronosyltransferases and irinotecan toxicity. Mol Pharmacol 2002; 62: 446-450
41. Zhang A, Xing Q, Qin S, Du J, Wang L, Yu L, Li X, Xu L, Xu M, Feng G, He L. Intra-ethnic differences in genetic variants of the UGT-glucuronosyltransferase 1A1 gene in Chinese populations. Pharmacogenomics J 2007; 7: 333-338
42. Nagar S, Blanchard RL. Pharmacogenetics of uridine diphos phoglucuronosyltransferase (UGT) 1A family members and its role in patient response to irinotecan. Drug Metab Rev 2006; 38: 393-409