Metastatic colorectal cancer KRAS genotyping in routine practice: Results and pitfalls

Modern Pathology

Volumn 24, Issue 8, 2011, Pages 1090-1100

  Lamy, Aude ^a,b   Blanchard, France ^a   Le Pessot, Florence ^a   Sesboüé, Richard ^b   Di Fiore, Frédéric ^a,b   Bossut, Jessie ^a   Fiant, Elodie ^a   Frébourg, Thierry ^a,b   Sabourin, Jean Christophe ^a,b  

^a ROUEN UNIVERSITY HOSPITAL   (France)

^b UNIVERSITÉ DE ROUEN   (France)

Author keywords

BRAF; cetuximab; colorectal cancer; formalin fixed paraffin embedded; KRAS; mutation; SNaPshot

Indexed keywords

B RAF KINASE; K RAS PROTEIN;

ARTICLE; CANCER LOCALIZATION; CANCER PATIENT; CLINICAL ARTICLE; CLINICAL PRACTICE; COLORECTAL CANCER; DNA EXTRACTION; DNA FRAGMENTATION; GENE MUTATION; GENETIC HETEROGENEITY; GENOTYPE; HUMAN; PRIMARY TUMOR; PRIORITY JOURNAL; QUALITY CONTROL;

ARTIFACTS; COLORECTAL NEOPLASMS; DNA MUTATIONAL ANALYSIS; DNA, NEOPLASM; FORMALDEHYDE; GENOTYPE; GENOTYPING TECHNIQUES; HUMANS; NEOPLASM METASTASIS; PARAFFIN EMBEDDING; POINT MUTATION; POLYMERASE CHAIN REACTION; PROTO-ONCOGENE PROTEINS; PROTO-ONCOGENE PROTEINS B-RAF; RAS PROTEINS; TISSUE FIXATION;

EID: 79961025560     PISSN: 08933952     EISSN: 15300285     Source Type: Journal    
DOI: 10.1038/modpathol.2011.60     Document Type: Article

References (31)

1. Yarden Y, Sliwkowski MX. Untangling the ErbB signalling network. Nat Rev Mol Cell Biol 2001;2: 127-137. (Pubitemid 33674041)
2. Lièvre 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.
3. Di Fiore F, Blanchard F, Charbonnier F, et al. Clinical relevance of KRAS mutation detection in metastatic colorectal cancer treated by cetuximab plus chemotherapy. Br J Cancer 2007;96:1166-1169. (Pubitemid 46625066)
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. Garnett MJ, Marais R. Guilty as charged: B-RAF is a human oncogene. Cancer Cell 2004;6:313-319. (Pubitemid 39361432)
6. Di Nicolantonio F, Martini M, Molinari F, et al. Wildtype BRAF is required for response to panitumumab or cetuximab in metastatic colorectal cancer. J Clin Oncol 2008;26:5705-5712.
7. Tol J, Nagtegaal ID, Punt CJ. BRAF mutation in metastatic colorectal cancer. N Engl J Med 2009; 361:98-99.
8. Van Cutsem E, Lang I, Folprecht G, et al. Cetuximab plus FOLFIRI in the treatment of metastatic colorectal cancer (mCRCs): The influence of KRAS and BRAF biomarkers on outcome: Updated data from the CRYSTAL trial. Abstract No: 281. ASCO GI 2010).
9. Erbitux European public assessment report. EMEA/327144/2009, EMEA/H/C/558. European Medicines Agency 2009.
10. Vectibix European public assessment report. EMEA/H/C/741. European Medicines Agency 2007.
11. Van Krieken JH, Jung A, Kirchner T, et al. KRAS mutation testing for predicting response to anti-EGFR therapy for colorectal carcinoma: proposal for an European quality assurance program. Virchows Arch 2008;453:417-431.
12. Perspectives on Emerging Technology (POET). Report: KRAS Mutation Testing for Colorectal Cancer (CRCs). College of American Pathologists: Northfield, IL, 2009.
13. Marchetti A, Felicioni L, Buttitta F. Assessing EGFR mutations [author reply]. N Engl J Med 2006;354: 526-528.
14. Williams C, Pontén F, Moberg C, et al. A high frequency of sequence alterations is due to formalin fixation of archival specimens. Am J Pathol 1999; 155:1467-1471.
15. Van Oers JM, Lurkin I, van Exsel AJ, et al. A simple and fast method for the simultaneous detection of nine fibroblast growth factor receptor 3 mutations in bladder cancer and voided urine. Clin Cancer Res 2005;11:7743-7748. (Pubitemid 41611617)
16. Rajagopalan H, Bardelli A, Lengauer C, Kinzler KW, Vogelstein B, Velculescu VE. Tumorigenesis: RAF/RAS oncogenes and mismatch-repair status. Nature 2002;418:934. (Pubitemid 34976022)
17. Hofreiter M, Jaenicke V, Serre D, Haeseler Av A, Pääbo S. DNA sequences from multiple amplifications reveal artifacts induced by cytosine deamination in ancient DNA. Nucleic Acids Res 2001;29:4793-4799. (Pubitemid 33133550)
18. Pääbo S, Irwin DM,Wilson AC. DNA damage promotes jumping between templates during enzymatic amplification. J Biol Chem 1990;265:4718-4721.
19. Andreyev HJ, Norman AR, Cunningham D, Oates JR, Clarke PA. Kirsten ras mutations in patients with colorectal cancer: the multicenter 'RASCAL' study. J Natl Cancer Inst 1998;90:675-684. (Pubitemid 28222141)
20. 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. (Pubitemid 32929467)
21. Neumann J, Zeindl-Eberhart E, Kirchner T, Jung A. Frequency and type of KRAS mutations in routine diagnostic analyses of metastatic colorectal cancer. Pathol Res Pract 2009;205:858-862.
22. Weichert W, Schewe C, Lehmann A, et al. KRAS genotyping of paraffin-embedded colorectal cancer tissue in routine diagnostics: comparison of methods and impact of histology. J Mol Diagn 2010;12:35-42.
23. Artale S, Sartore-Bianchi A, Veronese SM, et al. Mutations of KRAS and BRAF in primary and matched metastatic sites of colorectal cancer. J Clin Oncol 2008;26:4217-4219.
24. Baldus SE, Schaefer KL, Engers R, Hartleb D, Stoecklein NH, Gabbert HE. Prevalence and heterogeneity of KRAS, BRAF, and PIK3CA mutations in primary colorectal adenocarcinomas and their corresponding metastasis. Clin Cancer Res 2010;16:790-799.
25. Losi L, Baisse B, Bouzourene H, Benhattar J. Evolution of intratumoral genetic heterogeneity during colorectal cancer progression. Carcinogenesis 2005;26:916-922. (Pubitemid 41214320)
26. Di Fiore F, Charbonnier F, Lefebure B, et al. Clinical interest of KRAS mutation detection in blood for anti-EGFR therapies in metastatic colorectal cancer. Br J Cancer 2008;99:551-552.
27. Akbari M, Hansen MD, Halgunset J, Skorpen F, Krokan HE. Low copy number DNA template can render polymerase chain reaction error prone in a sequencedependent manner. J Mol Diagn 2005;7:36-39. (Pubitemid 40310163)
28. Stiller M, Green RE, Ronan M, et al. Patterns of nucleotide misincorporations during enzymatic amplification and direct large-scale sequencing of ancient DNA. Proc Natl Acad Sci USA 2006;103: 13578-13584. (Pubitemid 44413951)
29. Lindahl T. Instability and decay of the primary structure of DNA [Review]. Nature 1993;362:709-715. (Pubitemid 23125973)
30. Kwok S, Kellogg DE, McKinney N, et al. Effects of primer-template mismatches on the polymerase chain reaction: human immunodeficiency virus type 1 model studies. Nucleic Acids Res 1990;18:999-1005.
31. Inoue T, Nabeshima K, Kataoka H, Koono M. Feasibility of archival non-buffered formalin-fixed and paraffin-embedded tissues for PCR amplification: an analysis of resected gastric carcinoma. Pathol Int 1996;46:997-1004.