What can molecular pathology offer for optimal decision making?

Annals of Oncology

Volumn 23, Issue SUPPL. 10, 2012, Pages

  Aust, D E ^a   Sommer, U ^a   Baretton, G B ^a  

^a UNIVERSITY HOSPITAL CARL GUSTAV CARUS   (Germany)

Author keywords

Biomarker; Colorectal; Metastatic; Predictive; Prognostic

Indexed keywords

AMPHIREGULIN; B RAF KINASE; BEVACIZUMAB; BIOLOGICAL MARKER; CAPECITABINE; CETUXIMAB; EPIDERMAL GROWTH FACTOR RECEPTOR ANTIBODY; EPIREGULIN; FLUOROURACIL; FOLINIC ACID; IRINOTECAN; OXALIPLATIN; PANITUMUMAB; PHOSPHATIDYLINOSITOL 3,4,5 TRISPHOSPHATE 3 PHOSPHATASE; SOMATOMEDIN C RECEPTOR;

ADVANCED CANCER; ARTICLE; CANCER CHEMOTHERAPY; CANCER PROGNOSIS; CANCER RECURRENCE; CANCER RISK; CANCER STAGING; CANCER SURVIVAL; CHROMOSOME 17P; CHROMOSOME 18Q; CLINICAL DECISION MAKING; COLORECTAL CANCER; DISEASE FREE SURVIVAL; DISEASE MARKER; DRUG EFFICACY; EPIDERMAL GROWTH FACTOR RECEPTOR GENE; GENE EXPRESSION PROFILING; HETEROZYGOSITY; HUMAN; MICROSATELLITE INSTABILITY; MISMATCH REPAIR; MOLECULAR MODEL; MOLECULAR PATHOLOGY; MUTATIONAL ANALYSIS; NONHUMAN; ONCOGENE K RAS; OUTCOME ASSESSMENT; PHOSPHATIDYLINOSITIDE 3 KINASE CA GENE; PRIORITY JOURNAL; PROTEIN EXPRESSION; RECURRENCE RISK; RISK ASSESSMENT; RISK FACTOR; TUMOR GENE; VIRUS ONCOGENE;

CELL TRANSFORMATION, NEOPLASTIC; COLORECTAL NEOPLASMS; DECISION MAKING; GENE EXPRESSION REGULATION, NEOPLASTIC; HUMANS; MICROSATELLITE INSTABILITY; PATHOLOGY, MOLECULAR; PHOSPHATIDYLINOSITOL 3-KINASES; PROGNOSIS; PROTO-ONCOGENE PROTEINS; PROTO-ONCOGENE PROTEINS B-RAF; RAS PROTEINS; RECEPTOR, EPIDERMAL GROWTH FACTOR; SIGNAL TRANSDUCTION; TUMOR MARKERS, BIOLOGICAL;

EID: 84866756458     PISSN: 09237534     EISSN: 15698041     Source Type: Journal    
DOI: 10.1093/annonc/mds346     Document Type: Article

References (87)

1. Fearon ER, Vogelstein B. A genetic model for colorectal tumorigenesis. Cell 1990; 61: 759-767.
2. Jass JR. Classification of colorectal cancer based on correlation of clinical, morphological and molecular features. Histopathology 2007; 50: 113-130.
3. Makinen MJ. Colorectal serrated adenocarcinoma. Histopathology 2007; 50: 131-150.
4. Amado RG, Wolf M, Peeters M et al. Wild-type KRAS is required for panitumumab efficacy in patients with metastatic colorectal cancer. J Clin Oncol 2008; 26: 1626-1634.
5. Lievre A, Bachet JB, Le Corre D et al. KRAS mutation status is predictive of response to cetuximab therapy in colorectal cancer. Cancer Res 2006; 66: 3992-3995.
6. Normanno N, Pinto C, Castiglione F et al. KRAS mutations testing in colorectal carcinoma patients in Italy: from guidelines to external quality assessment. PLoS One 2011; 6: e29146.
7. Bellon E, Ligtenberg MJ, Tejpar S et al. External quality assessment for KRAS testing is needed: setup of a European program and report of the first joined regional quality assessment rounds. Oncologist 2011; 16: 467-478.
8. Peltomaki P. DNA mismatch repair and cancer. Mutat Res 2001; 488: 77-85.
9. Popat S, Hubner R, Houlston RS. Systematic review of microsatellite instability and colorectal cancer prognosis. J Clin Oncol 2005; 23: 609-618.
10. Tejpar S, Saridaki Z, Delorenzi M et al. Microsatellite instability, prognosis and drug sensitivity of stage II and III colorectal cancer: more complexity to the puzzle. J Natl Cancer Inst 2011; 103: 841-844.
11. Hutchins G, Southward K, Handley K et al. Value of mismatch repair, KRAS, and BRAF mutations in predicting recurrence and benefits from chemotherapy in colorectal cancer. J Clin Oncol 2011; 29: 1261-1270.
12. Benatti P, Gafa R, Barana D et al. Microsatellite instability and colorectal cancer prognosis. Clin Cancer Res 2005; 11: 8332-8340.
13. Jover R, Paya A, Alenda C et al. Defective mismatch-repair colorectal cancer: clinicopathologic characteristics and usefulness of immunohistochemical analysis for diagnosis. Am J Clin Pathol 2004; 122: 389-394.
14. Braun MS, Richman SD, Quirke P et al. Predictive biomarkers of chemotherapy efficacy in colorectal cancer: results from the UK MRC FOCUS trial. J Clin Oncol 2008; 26: 2690-2698.
15. Ward RL, Turner J, Williams R et al. Routine testing for mismatch repair deficiency in sporadic colorectal cancer is justified. J Pathol 2005; 207: 377-384.
16. Longley DB, Harkin DP, Johnston PG. 5-Fluorouracil: mechanisms of action and clinical strategies. Nat Rev Cancer 2003; 3: 330-338.
17. Ribic CM, Sargent DJ, Moore MJ et al. Tumor microsatellite-instability status as a predictor of benefit from fluorouracil-based adjuvant chemotherapy for colon cancer. N Engl J Med 2003; 349: 247-257.
18. Sargent DJ, Marsoni S, Monges G et al. Defective mismatch repair as a predictive marker for lack of efficacy of fluorouracil-based adjuvant therapy in colon cancer. J Clin Oncol 2010; 28: 3219-3226.
19. Sinicrope FA, Sargent DJ. Molecular pathways: microsatellite instability in colorectal cancer: prognostic, predictive, and therapeutic implications. Clin Cancer Res 2012; 18: 1506-1512.
20. Bertagnolli MM, Niedzwiecki D, Compton CC et al. Microsatellite instability predicts improved response to adjuvant therapy with irinotecan, fluorouracil, and leucovorin in stage III colon cancer: Cancer and Leukemia Group B Protocol 89803. J Clin Oncol 2009; 27: 1814-1821.
21. Tejpar S, Bosman F, Delorenzi M et al. Microsatellite instability (MSI) in stage II and III colon cancer treated with 5FU-LV or 5FU-LV and irinotecan (PETACC 3-EORTC40993-SAKK 60/00 trial). J Clin Oncol 2009; 27 (Abstr. 4001).
22. Mendelsohn J, Baselga J. Epidermal growth factor receptor targeting in cancer. Semin Oncol 2006; 33: 369-385.
23. Scaltriti M, Baselga J. The epidermal growth factor receptor pathway: a model for targeted therapy. Clin Cancer Res 2006; 12: 5268-5272.
24. Andreyev HJ, Norman AR, Cunningham D et al. Kirsten ras mutations in patients with colorectal cancer: the multicenter 'RASCAL' study. J Natl Cancer Inst 1998; 90: 675-684.
25. Andreyev HJ, Norman AR, Cunningham D et al. Kirsten ras mutations in patients with colorectal cancer: the 'RASCAL II' study. Br J Cancer 2001; 85: 692-696.
26. Richman SD, Seymour MT, Chambers P et al. KRAS and BRAF mutations in advanced colorectal cancer are associated with poor prognosis but do not preclude benefit from oxaliplatin or irinotecan: results from the MRC FOCUS trial. J Clin Oncol 2009; 27: 5931-5937.
27. Roth AD, Tejpar S, Delorenzi M et al. Prognostic role of KRAS and BRAF in stage II and III resected colon cancer: results of the translational study on the PETACC-3, EORTC 40993, SAKK 60-00 trial. J Clin Oncol 2009; 28: 466-474.
28. Hecht JR. Current and emerging therapies for metastatic colorectal cancer: applying research findings to clinical practice. Am J Health Syst Pharm 2008; 65: S15-S21; (Quiz S22-14).
29. Stefanius K, Ylitalo L, Tuomisto A et al. Frequent mutations of KRAS in addition to BRAF in colorectal serrated adenocarcinoma. Histopathology 2011; 58: 679-692.
30. Bokemeyer C, Bondarenko I, Makhson A et al. Fluorouracil, leucovorin, and oxaliplatin with and without cetuximab in the first-line treatment of metastatic colorectal cancer. J Clin Oncol 2009; 27: 663-671.
31. Hecht JR, Mitchell E, Chidiac T et al. A randomized phase IIIB trial of chemotherapy, bevacizumab, and panitumumab compared with chemotherapy and bevacizumab alone for metastatic colorectal cancer. J Clin Oncol 2009; 27: 672-680.
32. Tol J, Koopman M, Cats A et al. Chemotherapy, bevacizumab, and cetuximab in metastatic colorectal cancer. N Engl J Med 2009; 360: 563-572.
33. Douillard JY, Siena S, Cassidy J et al. Randomized, phase III trial of panitumumab with infusional fluorouracil, leucovorin, and oxaliplatin (FOLFOX4) versus FOLFOX4 alone as first-line treatment in patients with previously untreated metastatic colorectal cancer: the PRIME study. J Clin Oncol 2010; 28: 4697-4705.
34. Peeters M, Price TJ, Cervantes A et al. Randomized phase III study of panitumumab with fluorouracil, leucovorin, and irinotecan (FOLFIRI) compared with FOLFIRI alone as second-line treatment in patients with metastatic colorectal cancer. J Clin Oncol 2010; 28: 4706-4713.
35. De Roock W, Jonker DJ, Di Nicolantonio F et al. Association of KRAS p.G13D mutation with outcome in patients with chemotherapy-refractory metastatic colorectal cancer treated with cetuximab. JAMA 2010; 304: 1812-1820.
36. Modest DP, Reinacher-Schick A, Stintzing S et al. Cetuximab-based or bevacizumab-based first-line treatment in patients with KRAS p.G13D-mutated metastatic colorectal cancer: a pooled analysis. Anticancer Drugs 2012; 23: 666-673.
37. Gajate P, Sastre J, Bando I et al. Influence of KRAS p.G13D Mutation in patients with metastatic colorectal cancer treated with cetuximab. Clin Colorectal Cancer 2012. April 24 [epub ahead of print], doi: 10.1016/j.clcc.2012.02.003.
38. Edkins S, O'Meara S, Parker A et al. Recurrent KRAS codon 146 mutations in human colorectal cancer. Cancer Biol Ther 2006; 5: 928-932.
39. Loupakis F, Ruzzo A, Cremolini C et al. KRAS codon 61, 146 and BRAF mutations predict resistance to cetuximab plus irinotecan in KRAS codon 12 and 13 wild-type metastatic colorectal cancer. Br J Cancer 2009; 101: 715-721.
40. Li WQ, Kawakami K, Ruszkiewicz A et al. BRAF mutations are associated with distinctive clinical, pathological and molecular features of colorectal cancer independently of microsatellite instability status. Mol Cancer 2006; 5: 2.
41. Di Nicolantonio F, Martini M, Molinari F et al. Wild-type BRAF is required for response to panitumumab or cetuximab in metastatic colorectal cancer. J Clin Oncol 2008; 26: 5705-5712.
42. Popovici V, Budinska E, Tejpar S et al. Identification of a poor-prognosis BRAFmutant-like population of patients with colon cancer. J Clin Oncol 2012; 30: 1288-1295.
43. Yokota T, Ura T, Shibata N et al. BRAF mutation is a powerful prognostic factor in advanced and recurrent colorectal cancer. Br J Cancer 2011; 104: 856-862.
44. Bokemeyer C, Cutsem EV, Rougier P et al. Addition of cetuximab to chemotherapy as first-line treatment for KRAS wild-type metastatic colorectal cancer: pooled analysis of the CRYSTAL and OPUS randomised clinical trials. Eur J Cancer 2012; 48:1466-1475.
45. Samowitz WS, Sweeney C, Herrick J et al. Poor survival associated with the BRAF V600E mutation in microsatellite-stable colon cancers. Cancer Res 2005; 65: 6063-6069.
46. Loughrey MB, Waring PM, Tan A et al. Incorporation of somatic BRAF mutation testing into an algorithm for the investigation of hereditary non-polyposis colorectal cancer. Fam Cancer 2007; 6: 301-310.
47. Rizzo S, Bronte G, Fanale D et al. Prognostic vs predictive molecular biomarkers in colorectal cancer: is KRAS and BRAF wild type status required for anti-EGFR therapy? Cancer Treat Rev 2010; 36(Suppl 3): S56-S61.
48. Salazar R, Roepman P, Capella G et al. Gene expression signature to improve prognosis prediction of stage II and III colorectal cancer. J Clin Oncol 2011; 29: 17-24.
49. Gray RG, Quirke P, Handley K et al. Validation study of a quantitative multigene reverse transcriptase-polymerase chain reaction assay for assessment of recurrence risk in patients with stage II colon cancer. J Clin Oncol 2011; 29: 4611-4619.
50. Rimkus C, Friederichs J, Boulesteix AL et al. Microarray-based prediction of tumor response to neoadjuvant radiochemotherapy of patients with locally advanced rectal cancer. Clin Gastroenterol Hepatol 2008; 6: 53-61.
51. Watanabe T, Kobunai T, Yamamoto Y et al. Differential gene expression signatures between colorectal cancers with and without KRAS mutations: crosstalk between the KRAS pathway and other signalling pathways. Eur J Cancer 2011; 47: 1946-1954.
52. Wilson PM, Ladner RD, Lenz HJ. Predictive and prognostic markers in colorectal cancer. Gastrointest Cancer Res 2007; 1: 237-246.
53. Vogelstein B, Fearon ER, Hamilton SR et al. Genetic alterations during colorectaltumor development. N Engl J Med 1988; 319: 525-532.
54. Watanabe T, Wu TT, Catalano PJ et al. Molecular predictors of survival after adjuvant chemotherapy for colon cancer. N Engl J Med 2001; 344: 1196-1206.
55. Bosman FT, Yan P, Tejpar S et al. Tissue biomarker development in a multicentre trial context: a feasibility study on the PETACC3 stage II and III colon cancer adjuvant treatment trial. Clin Cancer Res 2009; 15: 5528-5533.
56. Russo A, Bazan V, Iacopetta B et al. The TP53 colorectal cancer international collaborative study on the prognostic and predictive significance of p53 mutation: influence of tumor site, type of mutation, and adjuvant treatment. J Clin Oncol 2005; 23: 7518-7528.
57. Munro AJ, Lain S, Lane DP. P53 abnormalities and outcomes in colorectal cancer: a systematic review. Br J Cancer 2005; 92: 434-444.
58. Isaksson-Mettavainio M, Palmqvist R, Dahlin AM et al. High SMAD4 levels appear in microsatellite instability and hypermethylated colon cancers, and indicate a better prognosis. Int J Cancer 2011; 131: 779-788
59. Baraniskin A, Munding J, Schulmann K et al. Prognostic value of reduced SMAD4 expression in patients with metastatic colorectal cancer under oxaliplatincontaining chemotherapy: a translational study of the AIO colorectal study group. Clin Colorectal Cancer 2011; 10: 24-29.
60. Samuels Y, Wang Z, Bardelli A et al. High frequency of mutations of the PIK3CA gene in human cancers. Science 2004; 304: 554.
61. Liao X, Morikawa T, Lochhead P et al. Prognostic role of PIK3CA mutation in colorectal cancer: cohort study and literature review. Clin Cancer Res 2012; 18: 2257-2268.
62. Ogino S, Nosho K, Kirkner GJ et al. PIK3CA mutation is associated with poor prognosis among patients with curatively resected colon cancer. J Clin Oncol 2009; 27: 1477-1484.
63. Sartore-Bianchi A, Martini M, Molinari F et al. PIK3CA mutations in colorectal cancer are associated with clinical resistance to EGFR-targeted monoclonal antibodies. Cancer Res 2009; 69: 1851-1857.
64. Souglakos J, Philips J, Wang R et al. Prognostic and predictive value of common mutations for treatment response and survival in patients with metastatic colorectal cancer. Br J Cancer 2009; 101: 465-472.
65. Velho S, Moutinho C, Cirnes L et al. BRAF, KRAS and PIK3CA mutations in colorectal serrated polyps and cancer: primary or secondary genetic events in colorectal carcinogenesis? BMC Cancer 2008; 8: 255.
66. Kato S, Iida S, Higuchi T et al. PIK3CA mutation is predictive of poor survival in patients with colorectal cancer. Int J Cancer 2007; 121: 1771-1778.
67. Baldus SE, Schaefer KL, Engers R et al. Prevalence and heterogeneity of KRAS, BRAF, and PIK3CA mutations in primary colorectal adenocarcinomas and their corresponding metastases. Clin Cancer Res 2010; 16: 790-799.
68. Tol J, Dijkstra JR, Klomp M et al. Markers for EGFR pathway activation as predictor of outcome in metastatic colorectal cancer patients treated with or without cetuximab. Eur J Cancer 2010; 46: 1997-2009.
69. Farina Sarasqueta A, Zeestraten EC, van Wezel T et al. PIK3CA kinase domain mutation identifies a subgroup of stage III colon cancer patients with poor prognosis. Cell Oncol (Dordr) 2011; 34: 523-531.
70. De Roock W, Claes B, Bernasconi D et al. Effects of KRAS, BRAF, NRAS, and PIK3CA mutations on the efficacy of cetuximab plus chemotherapy in chemotherapy-refractory metastatic colorectal cancer: a retrospective consortium analysis. Lancet Oncol 2010; 11: 753-762.
71. Khambata-Ford S, Garrett CR, Meropol NJ et al. Expression of epiregulin and amphiregulin and K-ras mutation status predict disease control in metastatic colorectal cancer patients treated with cetuximab. J Clin Oncol 2007; 25: 3230-3237.
72. Hawkes E, Cunningham D. Relationship between colorectal cancer biomarkers and response to epidermal growth factor receptor monoclonal antibodies. J Clin Oncol 2010; 28: e529-e531; author reply e532-e533.
73. Loupakis F, Pollina L, Stasi I et al. PTEN expression and KRAS mutations on primary tumors and metastases in the prediction of benefit from cetuximab plus irinotecan for patients with metastatic colorectal cancer. J Clin Oncol 2009; 27: 2622-2629.
74. Laurent-Puig P, Cayre A, Manceau G et al. Analysis of PTEN, BRAF, and EGFR status in determining benefit from cetuximab therapy in wild-type KRAS metastatic colon cancer. J Clin Oncol 2009; 27: 5924-5930.
75. Sood A, McClain D, Maitra R et al. PTEN gene expression and mutations in the PIK3CA gene as predictors of clinical benefit to anti-epidermal growth factor receptor antibody therapy in patients with KRAS wild-type metastatic colorectal cancer. Clin Colorectal Cancer 2012; 11: 143-150.
76. Asghar U, Hawkes E, Cunningham D. Predictive and prognostic biomarkers for targeted therapy in metastatic colorectal cancer. Clin Colorectal Cancer 2010; 9: 274-281.
77. Cappuzzo F, Finocchiaro G, Rossi E et al. EGFR FISH assay predicts for response to cetuximab in chemotherapy refractory colorectal cancer patients. Ann Oncol 2008; 19: 717-723.
78. Moroni M, Veronese S, Benvenuti S et al. Gene copy number for epidermal growth factor receptor (EGFR) and clinical response to antiEGFR treatment in colorectal cancer: a cohort study. Lancet Oncol 2005; 6: 279-286.
79. Hurwitz H, Fehrenbacher L, Novotny W et al. Bevacizumab plus irinotecan, fluorouracil, and leucovorin for metastatic colorectal cancer. N Engl J Med 2004; 350: 2335-2342.
80. Zha J, O'Brien C, Savage H et al. Molecular predictors of response to a humanized anti-insulin-like growth factor-I receptor monoclonal antibody in breast and colorectal cancer. Mol Cancer Ther 2009; 8: 2110-2121.
81. Aschele C, Lonardi S, Monfardini S. Thymidylate Synthase expression as a predictor of clinical response to fluoropyrimidine-based chemotherapy in advanced colorectal cancer. Cancer Treat Rev 2002; 28: 27-47.
82. Iyer L, Das S, Janisch L et al. UGT1A1*28 polymorphism as a determinant of irinotecan disposition and toxicity. Pharmacogenomics J 2002; 2: 43-47.
83. Braun MS, Richman SD, Thompson L et al. Association of molecular markers with toxicity outcomes in a randomized trial of chemotherapy for advanced colorectal cancer: the FOCUS trial. J Clin Oncol 2009; 27: 5519-5528.
84. Richman SD, Hutchins GG, Seymour MT et al. What can the molecular pathologist offer for optimal decision making? Ann Oncol 2010; 21(Suppl 7): vii123-vii129.
85. Bohanes P, Labonte MJ, Lenz HJ. A review of excision repair cross-complementation group 1 in colorectal cancer. Clin Colorectal Cancer 2011; 10: 157-164.
86. Maughan NJ, Morris E, Forman D et al. The validity of the Royal College of Pathologists' colorectal cancer minimum dataset within a population. Br J Cancer 2007; 97: 1393-1398.
87. Dienstmann R, Vilar E, Tabernero J. Molecular predictors of response to chemotherapy in colorectal cancer. Cancer J 2011; 17: 114-126.