Genomic aberrations occurring in subsets of serrated colorectal lesions but not conventional adenomas

Cancer Research

Volumn 73, Issue 9, 2013, Pages 2863-2872

  Burnett Hartman, Andrea N ^a,b   Newcomb, Polly A ^a,b   Potter, John D ^a,b   Passarelli, Michael N ^a,b   Phipps, Amanda I ^a   Wurscher, Michelle A ^a   Grady, William M ^a,c   Zhu, Lee Ching ^d   Upton, Melissa P ^c   Makar, Karen W ^a  

^a USA   (United States)

^b Boston University Medical Campus   (United States)

^c UNIVERSITY OF WASHINGTON   (United States)

^d Group Health   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

B RAF KINASE; NEUROGENIN 1; PROTEIN MLH1; SOMATOMEDIN B; SUPPRESSOR OF CYTOKINE SIGNALING 1; TRANSCRIPTION FACTOR RUNX3;

ADULT; AGED; BRAF GENE; CACNA1G GENE; CAUCASIAN; COLORECTAL ADENOMA; COLORECTAL POLYP; CONTROLLED STUDY; CPG ISLAND METHYLATOR PHENOTYPE; DNA METHYLATION; FEMALE; GENE; GENE MUTATION; HUMAN; HUMAN TISSUE; IGF2 GENE; MAJOR CLINICAL STUDY; MALE; MLH1 GENE; NEUROG1 GENE; OBESITY; PRIORITY JOURNAL; REVIEW; RISK ASSESSMENT; RISK FACTOR; RUNX3 GENE; SEX DIFFERENCE; SMOKING; SOCS1 GENE;

ADENOMA; ADULT; AGED; AGED, 80 AND OVER; CASE-CONTROL STUDIES; CHROMOSOME ABERRATIONS; COLONIC DISEASES; COLORECTAL NEOPLASMS; CPG ISLANDS; DNA METHYLATION; FEMALE; GENE EXPRESSION PROFILING; GENE EXPRESSION REGULATION, NEOPLASTIC; HUMANS; MALE; MIDDLE AGED; MODELS, GENETIC; MUTATION; POLYPS; PROTO-ONCOGENE PROTEINS B-RAF; QUESTIONNAIRES; REGRESSION ANALYSIS; RISK FACTORS;

EID: 84877764456     PISSN: 00085472     EISSN: 15387445     Source Type: Journal    
DOI: 10.1158/0008-5472.CAN-12-3462     Document Type: Review

References (49)

1. Jass Jr. Molecular heterogeneity of colorectal cancer: Implications for cancer control. Surg Oncol 2007;16 Suppl 1:S7-9.
2. Kinzler KW, Vogelstein B. Lessons from hereditary colorectal cancer. Cell 1996;87:159-70.
3. Jass Jr. Classification of colorectal cancer based on correlation of clinical, morphological and molecular features. Histopathology 2007;50:113-30.
4. Brenner H, Chang-Claude J, Seiler CM, Sturmer T, Hoffmeister M. Case-control study supports extension of surveillance interval after colonoscopic polypectomy to at least 5 yr. Am J Gastroenterol 2007; 102:1739-44.
5. Lieberman DA, Weiss DG, Harford WV, Ahnen DJ, Provenzale D, Sontag SJ, et al. Five-year colon surveillance after screening colonoscopy. Gastroenterology 2007;133:1077-85.
6. Jass Jr. Serrated route to colorectal cancer: back street or super highway. J Pathol 2001;193:283-5.
7. Kambara T, Simms LA, Whitehall VL, Spring KJ, Wynter CV, Walsh MD, et al. BRAF mutation is associated with DNA methylation in serrated polyps and cancers of the colorectum. Gut 2004;53:1137-44.
8. O'Brien MJ. Hyperplastic and serrated polyps of the colorectum. Gastroenterol Clin North Am 2007;36:947-68, viii.
9. Rex DK, Ahnen DJ, Baron JA, Batts KP, Burke CA, Burt RW, et al. Serrated lesions of the colorectum: review and recommendations from an expert panel. Am J Gastroenterol 2012;107:1315-29.
10. Snover DC, Ahnen DJ, Burt RW, Odze RD. Serrated polyps of the colon and rectum and serrated ("hyperplastic") polyposis. In:Bozman FT, Carneiro F, Hruban RH, Theise ND, editors. WHO classification of tumours pathology and genetics tumours of the digestive system. 4th ed. Berlin, Germany: Springer-Verlag; 2010.
11. Makinen MJ, George SM, Jernvall P, Makela J, Vihko P, Karttunen TJ. Colorectal carcinoma associated with serrated adenoma-prevalence, histological features, and prognosis. J Pathol 2001;193: 286-94.
12. Burnett-Hartman AN, Newcomb PA, Mandelson MT, Galloway DA, Madeleine MM, Wurscher MA, et al. No evidence for human papillomavirus in the etiology of colorectal polyps. Cancer Epidemiol Biomarkers Prev 2011;20:2288-97.
13. Burnett-Hartman AN, Newcomb PA, Mandelson MT, Adams SV, Wernli KJ, Shadman M, et al. Colorectal polyp type and the association with charred meat consumption, smoking, and microsomal epoxide hydrolase polymorphisms. Nutr Cancer 2011;63: 583-92.
14. Chung SM, Chen YT, Panczykowski A, Schamberg N, Klimstra DS, Yantiss RK. Serrated polyps with "intermediate features" of sessile serrated polyp and microvesicular hyperplastic polyp: a practical approach to the classification of nondysplastic serrated polyps. Am J Surg Pathol 2008;32:407-12.
15. Torlakovic E, Skovlund E, Snover DC, Torlakovic G, Nesland JM. Morphologic reappraisal of serrated colorectal polyps. Am J Surg Pathol 2003;27:65-81.
16. Weisenberger DJ, Siegmund KD,CampanM, Young J, Long TI, Faasse MA, 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.
17. Ogino S, Kawasaki T, BrahmandamM, Cantor M, Kirkner GJ, Spiegelman D, et al. Precision and performance characteristics of bisulfite conversion and real-time PCR (MethyLight) for quantitative DNA methylation analysis. J Mol Diagn 2006;8:209-17.
18. Benlloch S, Paya A, Alenda C, Bessa X, Andreu M, Jover R, et al. Detection ofBRAFV600E mutation in colorectal cancer: comparison of automatic sequencing and real-time chemistry methodology. J Mol Diagn 2006;8:540-3.
19. Buchanan DD, Sweet K, Drini M, Jenkins MA, Win AK, English DR, et al. Risk factors for colorectal cancer in patients with multiple serrated polyps: a cross-sectional case series from genetics clinics. PLoS One 2010;5:e11636.
20. Ananth CV, Kleinbaum DG. Regression models for ordinal responses: a review of methods and applications. Int J Epidemiol 1997;26: 1323-33.
21. Ogino S, Chan AT, Fuchs CS, Giovannucci E. Molecular pathological epidemiology of colorectal neoplasia: an emerging transdisciplinary and interdisciplinary field. Gut 2011;60:397-411.
22. English DR, Young JP, Simpson JA, Jenkins MA, Southey MC, Walsh MD, et al. Ethnicity and risk for colorectal cancers showing somatic BRAF V600E mutation or CpG island methylator phenotype. Cancer Epidemiol Biomarkers Prev 2008;17:1774-80.
23. Hughes LA, Simons CC, van den Brandt PA, Goldbohm RA, de Goeij AF, de Bruine AP, et al. Body size, physical activity and risk of colorectal cancer with or without the CpGisland methylator phenotype (CIMP). PLoS One 2011;6:e18571.
24. Samowitz WS, Albertsen H, Sweeney C, Herrick J, Caan BJ, Anderson KE, et al. Association of smoking, CpG island methylator phenotype, and V600E BRAF mutations in colon cancer. J Natl Cancer Inst 2006;98:1731-8.
25. Limsui D, Vierkant RA, Tillmans LS, Wang AH, Weisenberger DJ, Laird PW, et al. Cigarette smoking and colorectal cancer risk by molecularly defined subtypes. J Natl Cancer Inst 2010;102:1012-22.
26. Chan AO, Issa JP, Morris JS, Hamilton AS, Rashid A. Concordant CpG island methylation in hyperplastic polyposis. Am J Pathol 2002;160: 529-36.
27. Park S-J, Rashid A, Lee J-H, Kim SG, Hamilton SR, Wu TT. Frequent CpG island methylation in serrated adenomas of the colorectum. Am J Pathol 2003;162:815-22.
28. O'Brien MJ, Yang S, Mack C, Xu H, Huang CS, Mulcahy E, et al. Comparison of microsatellite instability, CpG island methylation phenotype, BRAF and KRAS status in serrated polyps and traditional adenomas indicates separate pathways to distinct colorectal carcinoma end points. Am J Surg Pathol 2006;30:1491-501.
29. Kim YH, Kakar S, Cun L, Deng G, Kim YS. Distinct CpG island methylation profiles and BRAF mutation status in serrated and adenomatous colorectal polyps. Int J Cancer 2008;123:2587-93.
30. Hughes LA, Khalid-de Bakker CA, Smits KM, van den Brandt PA, Jonkers D, Ahuja N, et al. The CpG island methylator phenotype in colorectal cancer: progress and problems. Biochim Biophys Acta 2012;1825:77-85.
31. Ogino S, Kawasaki T, Kirkner GJ, Kraft P, Loda M, Fuchs CS. Evaluation of markers for CpG island methylator phenotype (CIMP) in colorectal cancer by a large population-based sample. J Mol Diagn 2007;9:305-14.
32. Velho S, Moutinho C, Cirnes L, Albuquerque C, Hamelin R, Schmitt F, 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.
33. Vaughn CP, Wilson AR, Samowitz WS. Quantitative evaluation of CpG island methylation in hyperplastic polyps. Mod Pathol 2010;23:151-6.
34. Spring KJ, Zhao ZZ, Karamatic R, Walsh MD, Whitehall VL, Pike T, et al. High prevalence of sessile serrated adenomas with BRAF mutations: a prospective study of patients undergoing colonoscopy. Gastroenterology 2006;131:1400-7.
35. Whitehall VL, Rickman C, Bond CE, Ramsnes I, Greco SA, Umapathy A, et al. Oncogenic PIK3CA mutations in colorectal cancers and polyps. Int J Cancer 2012;131:813-20.
36. Koh DC, Luchtefeld MA, Kim DG, Attal H, Monroe T, Ingersoll K. Microsatellite instability and MLH1 hypermethylation - incidence and significance in colorectal polyps in young patients. Colorectal Dis 2007;9:521-6.
37. Petko Z, Ghiassi M, Shuber A, Gorham J, Smalley W, Washington MK, et al. Aberrantly methylated CDKN2A, MGMT, and MLH1 in colon polyps and in fecal DNA from patients with colorectal polyps. Clin Cancer Res 2005;11:1203-9.
38. O'Brien MJ, Yang S, Clebanoff JL, Mulcahy E, Farraye FA, Amorosino M, et al. Hyperplastic (serrated) polyps of the colorectum: relationship of CpG island methylator phenotype and K-ras mutation to location and histologic subtype. Am J Surg Pathol 2004;28:423-34.
39. Carr NJ, Mahajan H, Tan KL, Hawkins NJ, Ward RL. Serrated and nonserrated polyps of the colorectum: their prevalence in an unselected case series and correlation of BRAF mutation analysis with the diagnosis of sessile serrated adenoma. J Clin Pathol 2009;62:516-8.
40. Snover DC. Update on the serrated pathway to colorectal carcinoma. Hum Pathol 2011;42:1-10.
41. Goldstein NS. The gray area between heritable and cancer somatic (tumor phenotype) molecular genetic testing of colorectal adenocarcinomas. Am J Clin Pathol 2006;125:813-4.
42. Lu FI, van Niekerk de W, Owen D, Tha SP, Turbin DA, Webber DL. Longitudinal outcome study of sessile serrated adenomas of the colorectum: an increased risk for subsequent right-sided colorectal carcinoma. Am J Surg Pathol 2010;34:927-34.
43. Yamauchi M, Morikawa T, Kuchiba A, Imamura Y, Qian ZR, Nishihara R, et al. Assessment of colorectal cancer molecular features along bowel subsites challenges the conception of distinct dichotomy of proximal versus distal colorectum. Gut 2012;61:847-54.
44. Hiraoka S, Kato J, Fujiki S, Kaji E, Morikawa T, Murakami T, et al. The presence of large serrated polyps increases risk for colorectal cancer. Gastroenterology 2010;139:1503-10, 1510.e1-3.
45. Schreiner MA, Weiss DG, Lieberman DA. Proximal and large hyperplastic and nondysplastic serrated polyps detected by colonoscopy are associated with neoplasia. Gastroenterology 2010; 139:1497-502.
46. Slattery ML, Curtin K, Sweeney C, Levin TR, Potter J, Wolff RK, et al. Diet and lifestyle factor associations with CpG island methylator phenotype and BRAF mutations in colon cancer. Int J Cancer 2007;120:656-63.
47. Slattery ML, Lundgreen A, Herrick SJ, Caan BJ, Potter JD, Wolff RK. Associations between genetic variation in RUNX1, RUNX2, RUNX3, MAPK1, and eIF4E and risk of colon and rectal cancer: additional support for a TGF-{beta} signaling pathway. Carcinogenesis 2011;32: 318-26.
48. Karpinski P, Myszka A, Ramsey D, Misiak B, Gil J, Laczmanska I, et al. Polymorphisms in methyl-group metabolism genes and risk of sporadic colorectal cancer with relation to the CpG island methylator phenotype. Cancer Epidemiol 2010;34:338-44.
49. Kahi CJ, Hewett DG, Norton DL, Eckert GJ, Rex DK. Prevalence and variable detection of proximal colon serrated polyps during screening colonoscopy. Clin Gastroenterol Hepatol 2011;9:42-6.