Pharmacogenetic profiling and cetuximab outcome in patients with advanced colorectal cancer

BMC Cancer

Volumn 11, Issue , 2011, Pages

  Dahan, Laetitia ^a,b   Norguet, Emmanuelle ^a   Etienne Grimaldi, Marie Christine ^b   Formento, Jean Louis ^b   Gasmi, Mohamed ^c   Nanni, Isabelle ^c   Gaudart, Jean ^a   Garcia, Stéphane ^c   Ouafik, L'Houcine ^c   Seitz, Jean François ^a   Milano, Gérard ^b  

^a TIMONE HOSPITAL   (France)

^b CENTRE ANTOINE LACASSAGNE   (France)

^c HÔPITAL NORD   (France)

Author keywords

Cetuximab; Clinical outcome; Colorectal cancer; Egfr inhibitors; Polymorphisms

Indexed keywords

CETUXIMAB; FLUOROURACIL; FOLINIC ACID; IRINOTECAN; OXALIPLATIN; ANTINEOPLASTIC AGENT; CCND1 PROTEIN, HUMAN; CYCLIN D1; EPIDERMAL GROWTH FACTOR; EPIDERMAL GROWTH FACTOR RECEPTOR; FC RECEPTOR; FCGR2A PROTEIN, HUMAN; MONOCLONAL ANTIBODY;

ACNE; ADULT; ADVANCED CANCER; AGED; ARTICLE; CANCER MORTALITY; CANCER SURVIVAL; CCND1 GENE; COLORECTAL CANCER; CONTROLLED STUDY; DRUG EFFICACY; DRUG RESPONSE; EGF GENE; EGFR GENE; FCGR2A GENE; FCGR3A GENE; FEMALE; GENE; GENETIC VARIABILITY; HUMAN; HUMAN TISSUE; INTRON; MAJOR CLINICAL STUDY; MALE; MULTIPLE CYCLE TREATMENT; ONCOGENE K RAS; OVERALL SURVIVAL; PHARMACOGENETICS; PROGNOSIS; RETROSPECTIVE STUDY; SALVAGE THERAPY; SINGLE NUCLEOTIDE POLYMORPHISM; SKIN TOXICITY; SURVIVAL TIME; CARCINOMA; CHEMICALLY INDUCED DISORDER; COLORECTAL TUMOR; DISEASE COURSE; GENETIC POLYMORPHISM; GENETICS; MIDDLE AGED; MORTALITY; SKIN DISEASE; SURVIVAL;

ADULT; AGED; AGED, 80 AND OVER; ANTIBODIES, MONOCLONAL; ANTINEOPLASTIC AGENTS; CARCINOMA; COLORECTAL NEOPLASMS; CYCLIN D1; DISEASE PROGRESSION; EPIDERMAL GROWTH FACTOR; FEMALE; HUMANS; INTRONS; MALE; MIDDLE AGED; POLYMORPHISM, GENETIC; RECEPTOR, EPIDERMAL GROWTH FACTOR; RECEPTORS, IGG; SKIN DISEASES; SURVIVAL ANALYSIS;

EID: 82055175693     PISSN: None     EISSN: 14712407     Source Type: Journal    
DOI: 10.1186/1471-2407-11-496     Document Type: Article

References (45)

1. Jemal A, Siegel R, Ward E, Murray T, Xu J, Smigal C, Thun MJ. Cancer statistics 2006. CA Cancer J Clin 2006, 56:106-30. 10.3322/canjclin.56.2.106, 16514137.
2. Saltz LB, Meropol NJ, Loehrer PJ, Needle MN, Kopit J, Mayer RJ. Phase II trial of cetuximab in patients with refractory colorectal cancer that expresses the epidermal growth factor receptor. J Clin Oncol 2004, 22:1201-8. 10.1200/JCO.2004.10.182, 14993230.
3. Cunningham D, Humblet Y, Siena S, Khayat D, Bleiberg H, Santoro A, Bets D, Mueser M, Harstrick A, Verslype C, Chau I, Van Cutsem E. Cetuximab monotherapy and cetuximab plus irinotecan in irinotecan-refractory metastatic colorectal cancer. N Engl J Med 2004, 351:337-45. 10.1056/NEJMoa033025, 15269313.
4. Tabernero J, Van Cutsem E, Díaz-Rubio E, Cervantes A, Humblet Y, André T, Van Laethem JL, Soulié P, Casado E, Verslype C, Valera JS, Tortora G, Ciardiello F, Kisker O, de Gramont A. Phase II trial of cetuximab in combination with fluorouracil, leucovorin, and oxaliplatin in the first-line treatment of metastatic colorectal cancer. J Clin Oncol 2007, 25:5225-32. 10.1200/JCO.2007.13.2183, 18024868.
5. Baselga J. The EGFR as a target for anticancer therapy--focus on cetuximab. Eur J Cancer 2001, 37(Suppl 4):S16-22.
6. Karapetis CS, Khambata-Ford S, Jonker DJ, O'Callaghan CJ, Tu D, Tebbutt NC, Simes RJ, Chalchal H, Shapiro JD, Robitaille S, Price TJ, Shepherd L, Au HJ, Langer C, Moore MJ, Zalcberg JR. K-ras mutations and benefit from cetuximab in advanced colorectal cancer. N Engl J Med 2008, 359:1757-65. 10.1056/NEJMoa0804385, 18946061.
7. Di Fiore F, Blanchard F, Charbonnier F, Le Pessot F, Lamy A, Galais MP, Bastit L, Killian A, Sesboüé R, Tuech JJ, Queuniet AM, Paillot B, Sabourin JC, Michot F, Michel P, Frebourg T. Clinical relevance of KRAS mutation detection in metastatic colorectal cancer treated by Cetuximab plus chemotherapy. Br J Cancer 2007, 96:1166-9. 10.1038/sj.bjc.6603685, 2360149, 17375050.
8. Benvenuti S, Sartore-Bianchi A, Di Nicolantonio F, Zanon C, Moroni M, Veronese S, Siena S, Bardelli A. Oncogenic activation of the RAS/RAF signaling pathway impairs the response of metastatic colorectal cancers to anti-epidermal growth factor receptor antibody therapies. Cancer Res 2007, 67:2643-8. 10.1158/0008-5472.CAN-06-4158, 17363584.
9. De Roock W, Piessevaux H, De Schutter J, Janssens M, De Hertogh G, Personeni N, Biesmans B, Van Laethem JL, Peeters M, Humblet Y, Van Cutsem E, Tejpar S. KRAS wild-type state predicts survival and is associated to early radiological response in metastatic colorectal cancer treated with cetuximab. Ann Oncol 2008, 19:508-15.
10. Lièvre A, Bachet JB, Boige V, Cayre A, Le Corre D, Buc E, Ychou M, Bouché O, Landi B, Louvet C, André T, Bibeau F, Diebold MD, Rougier P, Ducreux M, Tomasic G, Emile JF, Penault-Llorca F, Laurent-Puig P. KRAS mutations as an independent prognostic factor in patients with advanced colorectal cancer treated with cetuximab. J Clin Oncol 2008, 26(3):374-9. 10.1200/JCO.2007.12.5906, 18202412.
11. Coate L, Cuffe S, Horgan A, Hung RJ, Christiani D, Liu G. Germline genetic variation, cancer outcome, and pharmacogenetics. J Clin Oncol 2010, 28:4029-37. 10.1200/JCO.2009.27.2336, 20679599.
12. Buerger H, Gebhardt F, Schmidt H, Beckmann A, Hutmacher K, Simon R, Lelle R, Boecker W, Brandt B. Length and loss of heterozygosity of an intron 1 polymorphic sequence of egfr is related to cytogenetic alterations and epithelial growth factor receptor expression. Cancer Res 2000, 60(4):854-7.
13. Moriai T, Kobrin MS, Hope C, Speck L, Korc M. A variant epidermal growth factor receptor exhibits altered type alpha transforming growth factor binding and transmembrane signaling. Proc Natl Acad Sci USA 1994, 91(21):10217-21. 10.1073/pnas.91.21.10217, 44989, 7937865.
14. Liu W, Innocenti F, Wu MH, Desai AA, Dolan ME, Cook EH, Ratain MJ. A functional common polymorphism in a Sp1 recognition site of the epidermal growth factor receptor gene promoter. Cancer Res 2005, 65(1):46-53.
15. Shahbazi M, Pravica V, Nasreen N, Fakhoury H, Fryer AA, Strange RC, Hutchinson PE, Osborne JE, Lear JT, Smith AG, Hutchinson IV. Association between functional polymorphism in EGF gene and malignant melanoma. Lancet 2002, 359(9304):397-401. 10.1016/S0140-6736(02)07600-6, 11844511.
16. Spindler KL, Nielsen JN, Ornskov D, Brandslund I, Jakobsen A. Epidermal growth factor (EGF) A61G polymorphism and EGF gene expression in normal colon tissue from patients with colorectal cancer. Acta Oncol 2007, 46(8):1113-7. 10.1080/02841860701338853, 17851837.
17. Le Marchand L, Seifried A, Lum-Jones A, Donlon T, Wilkens LR. Association of the cyclin D1 A870G polymorphism with advanced colorectal cancer. JAMA 2003, 290(21):2843-8. 10.1001/jama.290.21.2843, 14657069.
18. Hong Y, Eu KW, Seow-Choen F, Fook-Chong S, Cheah PY. GG genotype of cyclin D1 G870A polymorphism is associated with increased risk and advanced colorectal cancer in patients in Singapore. Eur J Cancer 2005, 41(7):1037-44. 10.1016/j.ejca.2005.01.009, 15862753.
19. Weiner GJ. Monoclonal antibody mechanisms of action in cancer. Immunol Res 2007, 39(1-3):271-8. Review, 10.1007/s12026-007-0073-4, 17917071.
20. Kurai J, Chikumi H, Hashimoto K, Yamaguchi K, Yamasaki A, Sako T, Touge H, Makino H, Takata M, Miyata M, Nakamoto M, Burioka N, Shimizu E. Antibody-dependent cellular cytotoxicity mediated by cetuximab against lung cancer cell lines. Clin Cancer Res 2007, 13(5):1552-61. 10.1158/1078-0432.CCR-06-1726, 17332301.
21. van Sorge NM, van der Pol WL, van de Winkel JG. FcgammaR polymorphisms: Implications for function, disease susceptibility and immunotherapy. Tissue Antigens 2003, 61(3):189-202. Review, 10.1034/j.1399-0039.2003.00037.x, 12694568.
22. Etienne-Grimaldi MC, Pereira S, Magné N, et al. Analysis of the dinucleotide repeat polymorphism in the epidermal growth factor receptor (EGFR) gene in head and neck cancer patients. Ann Oncol 2005, 16:934-941. 10.1093/annonc/mdi189, 15829495.
23. Van Cutsem E, Köhne CH, Hitre E, Zaluski J, Chang Chien CR, Makhson A, D'Haens G, Pintér T, Lim R, Bodoky G, Roh JK, Folprecht G, Ruff P, Stroh C, Tejpar S, Schlichting M, Nippgen J, Rougier P. Cetuximab and chemotherapy as initial treatment for metastatic colorectal cancer. N Engl J Med 2009, 360(14):1408-17. 10.1056/NEJMoa0805019, 19339720.
24. Bokemeyer C, Bondarenko I, Makhson A, Hartmann JT, Aparicio J, de Braud F, Donea S, Ludwig H, Schuch G, Stroh C, Loos AH, Zubel A, Koralewski P. Fluorouracil, leucovorin, and oxaliplatin with and without cetuximab in the first-line treatment of metastatic colorectal cancer. J Clin Oncol 2009, 27(5):663-71. Epub 2008 Dec 29, 10.1200/JCO.2008.20.8397, 19114683.
25. Bianchini D, Jayanth A, Chua YJ, Cunningham D. Epidermal growth factor receptor inhibitor-related skin toxicity: mechanisms, treatment, and its potential role as a predictive marker. Clin Colorectal Cancer 2008, 7(1):33-43. 10.3816/CCC.2008.n.005, 18279575.
26. Amador ML, Oppenheimer D, Perea S, Maitra A, Cusatis G, Iacobuzio-Donahue C, Baker SD, Ashfaq R, Takimoto C, Forastiere A, Hidalgo M. An epidermal growth factor receptor intron 1 polymorphism mediates response to epidermal growth factor receptor inhibitors. Cancer Res 2004, 64(24):9139-43. Erratum in: Cancer Res. 2007, 67(16):7937, 10.1158/0008-5472.CAN-04-1036, 15604284.
27. Graziano F, Ruzzo A, Loupakis F, Canestrari E, Santini D, Catalano V, Bisonni R, Torresi U, Floriani I, Schiavon G, Andreoni F, Maltese P, Rulli E, Humar B, Falcone A, Giustini L, Tonini G, Fontana A, Masi G, Magnani M. Pharmacogenetic profiling for cetuximab plus irinotecan therapy in patients with refractory advanced colorectal cancer. J Clin Oncol 2008, 26(9):1427-34. 10.1200/JCO.2007.12.4602, 18349392.
28. Buerger H, Gebhardt F, Schmidt H, Beckmann A, Hutmacher K, Simon R, Lelle R, Boecker W, Brandt B. Length and loss of heterozygosity of an intron 1 polymorphic sequence of egfr is related to cytogenetic alterations and epithelial growth factor receptor expression. Cancer Res 2000, 60(4):854-7.
29. Buerger H, Packeisen J, Boecker A, Tidow N, Kersting C, Bielawski K, Isola J, Yatabe Y, Nakachi K, Boecker W, Brandt B. Allelic length of a CA dinucleotide repeat in the egfr gene correlates with the frequency of amplifications of this sequence--first results of an inter-ethnic breast cancer study. J Pathol 2004, 203(1):545-50. 10.1002/path.1542, 15095477.
30. Gebhardt F, Zänker KS, Brandt B. Modulation of epidermal growth factor receptor gene transcription by a polymorphic dinucleotide repeat in intron 1. J Biol Chem 1999, 274(19):13176-80. 10.1074/jbc.274.19.13176, 10224073.
31. Johnson AC, Ishii S, Jinno Y, Pastan I, Merlino GT. Epidermal growth factor receptor gene promoter. Deletion analysis and identification of nuclear protein binding sites. J Biol Chem 1988, 263(12):5693-9.
32. Kageyama R, Merlino GT, Pastan I. Epidermal growth factor (EGF) receptor gene transcription. Requirement for Sp1 and an EGF receptor-specific factor. J Biol Chem 1988, 263(13):6329-36.
33. Betticher DC, Thatcher N, Altermatt HJ, Hoban P, Ryder WD, Heighway J. Alternate splicing produces a novel cyclin D1 transcript. Oncogene 1995, 11(5):1005-11.
34. Izzo JG, Papadimitrakopoulou VA, Liu DD, den Hollander PL, Babenko IM, Keck J, El-Naggar AK, Shin DM, Lee JJ, Hong WK, Hittelman WN. Cyclin D1 genotype, response to biochemoprevention, and progression rate to upper aerodigestive tract cancer. J Natl Cancer Inst 2003, 95(3):198-205. 10.1093/jnci/95.3.198, 12569141.
35. Matthias C, Branigan K, Jahnke V, Leder K, Haas J, Heighway J, Jones PW, Strange RC, Fryer AA, Hoban PR. Polymorphism within the cyclin D1 gene is associated with prognosis in patients with squamous cell carcinoma of the head and neck. Clin Cancer Res 1998, 4(10):2411-8. Erratum in: Clin Cancer Res 1999, 5(1):222.
36. Zhang W, Gordon M, Press OA, Rhodes K, Vallböhmer D, Yang DY, Park D, Fazzone W, Schultheis A, Sherrod AE, Iqbal S, Groshen S, Lenz HJ. Cyclin D1 and epidermal growth factor polymorphisms associated with survival in patients with advanced colorectal cancer treated with Cetuximab. Pharmacogenet Genomics 2006, 16(7):475-83. 10.1097/01.fpc.0000220562.67595.a5, 16788380.
37. Shields RL, Namenuk AK, Hong K, Meng YG, Rae J, Briggs J, Xie D, Lai J, Stadlen A, Li B, Fox JA, Presta LG. High resolution mapping of the binding site on human IgG1 for Fc gamma RI, Fc gamma RII, Fc gamma RIII, and FcRn and design of IgG1 variants with improved binding to the Fc gamma R. J Biol Chem 2001, 276(9):6591-604. Epub 2000 Nov 28, 10.1074/jbc.M009483200, 11096108.
38. Wu J, Edberg JC, Redecha PB, Bansal V, Guyre PM, Coleman K, Salmon JE, Kimberly RP. A novel polymorphism of FcgammaRIIIa (CD16) alters receptor function and predisposes to autoimmune disease. J Clin Invest 1997, 100(5):1059-70. 10.1172/JCI119616, 508280, 9276722.
39. Niwa R, Hatanaka S, Shoji-Hosaka E, Sakurada M, Kobayashi Y, Uehara A, Yokoi H, Nakamura K, Shitara K. Enhancement of the antibody-dependent cellular cytotoxicity of low-fucose IgG1 Is independent of FcgammaRIIIa functional polymorphism. Clin Cancer Res 2004, 10(18 Pt 1):6248-55.
40. van Royen-Kerkhof A, Sanders EA, Wijngaarden S, van Roon JA, Voorhorst-Ogink M, Walraven V, Gerritsen A, van Dijk MA, Kuis W, Rijkers GT, Keler T, Leusen JH, van de Winkel JG. Flow cytometric determination of FcgammaRIIa (CD32) polymorphism. J Immunol Methods 2004, 294(1-2):135-44. Epub 2004 Oct 6, 10.1016/j.jim.2004.09.010, 15604023.
41. Cartron G, Dacheux L, Salles G, Solal-Celigny P, Bardos P, Colombat P, Watier H. Therapeutic activity of humanized anti-CD20 monoclonal antibody and polymorphism in IgG Fc receptor FcgammaRIIIa gene. Blood 2002, 99(3):754-8. 10.1182/blood.V99.3.754, 11806974.
42. Musolino A, Naldi N, Bortesi B, et al. Immunoglobulin G fragment C receptor polymorphisms and clinical efficacy of trastuzumab-based therapy in patients with HER-2-neu-positive metastatic breast cancer. J Clin Oncol 2008, 26(11):1789-96. 10.1200/JCO.2007.14.8957, 18347005.
43. Zhang W, Gordon M, Schultheis AM, Yang DY, Nagashima F, Azuma M, Chang HM, Borucka E, Lurje G, Sherrod AE, Iqbal S, Groshen S, Lenz HJ. FCGR2A and FCGR3A polymorphisms associated with clinical outcome of epidermal growth factor receptor expressing metastatic colorectal cancer patients treated with single-agent cetuximab. J Clin Oncol 2007, 25(24):3712-8. 10.1200/JCO.2006.08.8021, 17704420.
44. Bibeau F, Lopez-Crapez E, Di Fiore F, Thezenas S, Ychou M, Blanchard F, Lamy A, Penault-Llorca F, Frébourg T, Michel P, Sabourin JC, Boissière-Michot F. Impact of Fc{gamma}RIIa-Fc{gamma}RIIIa polymorphisms and KRAS mutations on the clinical outcome of patients with metastatic colorectal cancer treated with cetuximab plus irinotecan. J Clin Oncol 2009, 27(7):1122-9. Epub 2009 Jan 21, 10.1200/JCO.2008.18.0463, 19164213.
45. Pander J, Gelderblom H, Antonini NF, Tol J, van Krieken JHJM, van der Straaten T, Punt CJA, Guchelaar HJ. Correlation of FCGR3A and EGFR germline polymorphisms with the efficacy of cetuximab in KRAS wild-type metastatic colorectal cancer. Eur J Cancer 2010, 46:1829-34. 10.1016/j.ejca.2010.03.017, 20418097.