Clinicopathological features of CpG island methylator phenotype-positive colorectal cancer and its adverse prognosis in relation to KRAS/BRAF mutation

Pathology International

Volumn 58, Issue 2, 2008, Pages 104-113

  Lee, Sun ^b   Cho, Nam Yun ^a   Choi, Minhee ^a   Yoo, Eun J ^a   Kim, Jung Ho ^a   Kang, Gyeong H ^a  

^a Seoul National University College of Medicine   (South Korea)

^b Kyung Hee University Hospital   (South Korea)

Author keywords

BRAF; Colorectal cancer; CpG islands; DNA methylation; KRAS; Microsatellite instability

Indexed keywords

B RAF KINASE;

ADULT; AGED; ARTICLE; COLORECTAL CANCER; CONTROLLED STUDY; CPG ISLAND; EPIGENETICS; FEMALE; GENE MUTATION; HUMAN; HUMAN TISSUE; MAJOR CLINICAL STUDY; MALE; METASTASIS; METHYLATION; MICROSATELLITE INSTABILITY; PHENOTYPE; PRIORITY JOURNAL; PROGNOSIS; SURVIVAL;

ADENOCARCINOMA; COLORECTAL NEOPLASMS; CPG ISLANDS; DNA METHYLATION; DNA MUTATIONAL ANALYSIS; DNA, NEOPLASM; FEMALE; GENE EXPRESSION REGULATION, NEOPLASTIC; GENOMIC INSTABILITY; HUMANS; MALE; MICROSATELLITE REPEATS; MIDDLE AGED; MUTATION; PROGNOSIS; PROTO-ONCOGENE PROTEINS; PROTO-ONCOGENE PROTEINS B-RAF; RAS PROTEINS; SURVIVAL RATE;

EID: 38149135181     PISSN: 13205463     EISSN: 14401827     Source Type: Journal    
DOI: 10.1111/j.1440-1827.2007.02197.x     Document Type: Article

References (36)

1. Bronner CE, Baker SM, Morrison PT et al. Mutation in the DNA mismatch repair gene homologue hMLH1 is associated with hereditary non-polyposis colon cancer. Nature 1994 368 : 258 61.
2. Fishel R, Lescoe MK, Rao MR et al. The human mutator gene homolog MSH2 and its association with hereditary nonpolyposis colon cancer. Cell 1993 75 : 1027 38.
3. Cunningham JM, Christensen ER, Tester DJ et al. Hypermethylation of the hMLH1 promoter in colon cancer with microsatellite instability. Cancer Res 1998 58 : 3455 60.
4. Modrich P. Strand-specific mismatch repair in mammalian cells. J Biol Chem 1997 272 : 24727 30.
5. Senba S, Konishi F, Okamoto T et al. Clinicopathologic and genetic features of nonfamilial colorectal carcinomas with DNA replication errors. Cancer 1998 82 : 279 85.
6. Herfarth KK, Kodner IJ, Whelan AJ et al. Mutations in MLH1 are more frequent than in MSH2 in sporadic colorectal cancers with microsatellite instability. Genes Chromosomes Cancer 1997 18 : 42 9.
7. Peyssonnaux C, Eychene A. The Raf/MEK/ERK pathway: New concepts of activation. Biol Cell 2001 93 : 53 62.
8. Davies H, Bignell GR, Cox C et al. Mutations of the BRAF gene in human cancer. Nature 2002 93 : 53 62.
9. Samowitz WS, Albertsen H, Herrick J et al. Evaluation of a large, population-based sample supports a CpG island methylator phenotype in colon cancer. Gastroenterology 2005 129 : 837 45.
10. Smith G, Carey FA, Beattie J et al. Mutations in APC, Kirsten-ras, and p53: Alternative genetic pathways to colorectal cancer. Proc Natl Acad Sci USA 2002 99 : 9433 8.
11. Yuen ST, Davies H, Chan TL et al. Similarity of the phenotypic patterns associated with BRAF and KRAS mutations in colorectal neoplasia. Cancer Res 2002 62 : 6451 5.
12. Maruta H, Holden J, Sizeland A et al. The residues of Ras and Rap proteins that determine their GAP specificities. J Biol Chem 1991 266 : 11 61 8.
13. Toyota M, Ahuja N, Ohe-Toyota M, Herman JG, Baylin SB, Issa JP. CpG island methylator phenotype in colorectal cancer. Proc Natl Acad Sci USA 1999 96 : 8681 6.
14. Toyota M, Ohe-Toyota M, Ahuja N, Issa JP. Distinct genetic profiles in colorectal tumors with or without the CpG island methylator phenotype. Proc Natl Acad Sci USA 2000 9 : 710 15.
15. Hawkins N, Norrie M, Cheong K et al. CpG island methylation in sporadic colorectal cancers and its relationship to microsatellite instability. Gastroenterology 2002 122 : 1376 87.
16. 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 9.
17. Van Rijnsoever M, Grieu F, Elsaleh H, Joseph D, lacopetta B. Characterisation of colorectal cancers showing hypermethylation at multiple CpG islands. Gut 2002 51 : 797 802.
18. Ward RL, Cheong K, Ku SL, Meagher A, O'Connor T, Hawkins NJ. Adverse prognostic effect of methylation in colorectal cancer is reversed by microsatellite instability. J Clin Oncol 2003 21 : 3729 36.
19. American Joint Committee on Cancer, eds. AJCC Cancer Staging Manual. Philadelphia, PA : Lippincott-Raven, 1997.
20. Vasen HF, Watson P, Mecklin JP, Lynch HT. New clinical criteria for hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome) proposed by the international collaborative group on HNPCC. Gastroenterology 1999 116 : 1453 6.
21. Hamilton SR, Aaltonen LA, eds. World Health Organization Classification of Tumours. Pathology and Genetics of Tumours of Digestive System. Lyon : IARC Press, 2000.
22. Herman JG, Graff JR, Myohanen S, Nelkin BD, Baylin SB. Methylation-specific PCR: A novel PCR assay for methylation status of CpG islands. Proc Natl Acad Sci USA 1996 93 : 9821 6.
23. Nagasaka T, Sasamoto H, Notohara K et al. Colorectal cancer with mutation in BRAF, KRAS, and wild-type with respect to both oncogenes showing different patterns of DNA methylation. J Clin Oncol 2004 22 : 4584 94.
24. Van Rijnsoever M, Elsaleh H, Joseph D, McCaul K, Iacopetta B. CpG island methylator phenotype is an independent predictor of survival benefit from 5-fluorouracil in stage III colorectal cancer. Clin Cancer Res 2003 9 : 2898 903.
25. Rajagopalan H, Bardelli A, Lengauer C, Kinzler KW, Vogelstein B, Velculescu VE. Tumorigenesis: RAF/RAS oncogenes and mismatch-repair status. Nature 2002 418 : 934.
26. Samowitz WS, Curtin K, Ma KN et al. Microsatellite instability in sporadic colon cancer is associated with an improved prognosis at the population level. Cancer Epidemiol Biomarkers Prev 2001 10 : 917 23.
27. Wang L, Cunningham JM, Winters JL et al. BRAF mutations in colon cancer are not likely attributable to defective DNA mismatch repair. Cancer Res 2003 63 : 5209 12.
28. Lubomierski N, Plotz G, Wormek M et al. BRAF mutations in colorectal carcinoma suggest two entities of microsatellite-unstable tumors. Cancer 2005 104 : 952 61.
29. Liu WH, Kaur M, Wang G, Zhu P, Zhang Y, Makrigiorgos GM. Inverse PCR-based RFLP scanning identifies low-level mutation signatures in colon cells and tumors. Cancer Res 2004 64 : 2544 51.
30. Young J, Barker MA, Simms LA et al. Evidence for BRAF mutation and variable levels of microsatellite instability in a syndrome of familial colorectal cancer. Clin Gastroenterol Hepatol 2005 3 : 254 63.
31. Chang SC, Lin JK, Yang SH, Wang HS, Li AF, Chi CW. Relationship between genetic alterations and prognosis in sporadic colorectal cancer. Int J Cancer 2006 118 : 1721 7.
32. Fransen K, Klintenas M, Osterstrom A, Dimberg J, Monstein HJ, Soderkvist P. Mutation analysis of the BRAF, ARAF and RAF-1 genes in human colorectal adenocarcinomas. Carcinogenesis 2004 25 : 527 33.
33. Chan AO, Broaddus RR, Houlihan PS, Issa JP, Hamilton SR, Rashid A. Concordant CpG island methylation in hyperplastic polyposis. Am J Pathol 2002 160 : 529 36.
34. Park SJ, Rashid A, Lee JH, Kim SG, Hamilton SR, Wu TT. Frequent CpG island methylation in serrated adenomas of the colorectum. Am J Pathol 2003 162 : 815 22.
35. Yamamoto H, Min Y, Otoh F et al. Differential involvement of the hypermethylator phenotype in hereditary and sporadic colorectal cancers with high-frequency microsatellite instability. Genes Chromosomes Cancer 2002 22 : 322 5.
36. Weisenberger DJ, Siegmund KD, Campan M et al. CpG island methylator phenotype underlies sporadic microsatellite instability and is tightly associated with BRAF mutation in colorectal cancer. Nat Genet 2006 38 : 787 93.