Advertisement

Hyperplastic Polyposis Syndrome: Colorectal Cancer Predisposition

  • Joanne YoungEmail author
Chapter
Part of the M.D. Anderson Solid Tumor Oncology Series book series (MDA, volume 5)

Abstract

A major paradigm shift in the way we view the initiation and progression of colorectal cancer (CRC) has occurred within the last decade. For many years, the malignant transformation of adenomatous polyps (adenomas) was considered to be the only route to cancer in the human colon. The other common polyp type, with serrated but non-dysplastic features (also referred to as hyperplastic or metaplastic polyps) was seen as innocuous. However, with the recognition at a molecular level that some serrated polyps may act as the precursor lesions for CRCs, the “serrated pathway” came of age, and has provided an alternative mechanism for the development of CRC, existing alongside the traditional adenoma–carcinoma sequence. Molecular evidence for the malignant transformation of serrated polyps was first observed in a colorectal cancer patient with a condition called hyperplastic polyposis syndrome (HPS), where multiple serrated polyps are present throughout the colon. Since this pivotal event, HPS has served as a molecular model for the serrated pathway of CRC development, analogous to that provided by FAP for the sporadic adenoma–carcinoma sequence. In this chapter, the evidence that individuals with HPS have a genetic predisposition, which increases their risk of developing CRC, will be examined. Though the genetic lesion underlying HPS is yet to be identified, its inclusion as a genetic CRC predisposition is a concept whose time has come.

Keywords

Hyperplastic polyposis Serrated polyps BRAF mutation CpG island methylator phenotype Familial cancer predisposition 

References

  1. 1.
    Lane N. The precursor tissue of ordinary large bowel cancer. Cancer Res. 1976;36:2669–72.PubMedGoogle Scholar
  2. 2.
    Lauwers GY, Chung DC. The serrated polyp comes of age. Gastroenterology. 2006;131:1631–4.PubMedCrossRefGoogle Scholar
  3. 3.
    Jass JR, Young J, Leggett BA. Hyperplastic polyps and DNA microsatellite unstable cancers of the colorectum. Histopathology. 2000;37:295–301.PubMedCrossRefGoogle Scholar
  4. 4.
    Cooke SA. Polyposis coli. The clinical spectrum in adults. S Afr Med J. 1978;53:454–7.PubMedGoogle Scholar
  5. 5.
    Cooper HS, Patchefsky AS, Marks G. Adenomatous and carcinomatous changes within hyperplastic colonic epithelium. Dis Colon Rectum. 1979;22:152–6.PubMedCrossRefGoogle Scholar
  6. 6.
    Jass JR, Iino H, Ruszkiewicz A, Painter D, Solomon MJ, Koorey DJ, et al. Neoplastic progression occurs through mutator pathways in hyperplastic polyposis of the colorectum. Gut. 2000;47:43–9.PubMedCrossRefGoogle Scholar
  7. 7.
    Vogelstein B, Fearon ER, Hamilton SR, Kern SE, Preisinger AC, Leppert M, et al. Genetic alterations during colorectal-tumor development. N Engl J Med. 1988;319:525–32.PubMedCrossRefGoogle Scholar
  8. 8.
    Kampman E. A first-degree relative with colorectal cancer: what are we missing? Cancer Epidemiol Biomarkers Prev. 2007;16:1–3.PubMedCrossRefGoogle Scholar
  9. 9.
    Sinicrope FA. Insights into familial colon cancer: the plot thickens. Clin Gastroenterol Hepatol. 2005;3:216–7.PubMedCrossRefGoogle Scholar
  10. 10.
    Young J, Jass JR. The case for a genetic predisposition to serrated neoplasia in the ­colorectum: hypothesis and review of the literature. Cancer Epidemiol Biomarkers Prev. 2006;15:1778–84.PubMedCrossRefGoogle Scholar
  11. 11.
    Jass JR. Serrated adenoma of the colorectum and the DNA-methylator phenotype. Nat Clin Pract Oncol. 2005;2:398–405.Google Scholar
  12. 12.
    Jorgensen H, Mogensen AM, Svendsen LB. Hyperplastic polyposis of the large bowel. Three cases and a review of the literature. Scand J Gastroenterol. 1996;31:825–30.PubMedCrossRefGoogle Scholar
  13. 13.
    Lin OS, Schembre DB, McCormick SE, Gluck M, Patterson DJ, Jiranek GC, et al. Risk of proximal colorectal neoplasia among asymptomatic patients with distal hyperplastic polyps. Am J Med. 2005;118:1113–9.PubMedCrossRefGoogle Scholar
  14. 14.
    Torlakovic E, Snover DC. Serrated adenomatous polyposis in humans. Gastroenterology. 1996;110:748–55.PubMedCrossRefGoogle Scholar
  15. 15.
    Rubio CA, Stemme S, Jaramillo E, Lindblom A. Hyperplastic polyposis coli syndrome and colorectal carcinoma. Endoscopy. 2006;38:266–70.PubMedCrossRefGoogle Scholar
  16. 16.
    Spjut H, Estrada RG. The significance of epithelial polyps of the large bowel. Pathol Annu. 1977;12(Pt 1):147–70.PubMedGoogle Scholar
  17. 17.
    Burt R, Jass JR. Hyperplastic polyposis. In: Hamilton SR, Aaltonen LA, editors. Pathology and genetics of tumours of the digestive system. Lyon: IARC Press; 2000. p. 135–6.Google Scholar
  18. 18.
    Chow E, Lipton L, Lynch E, et al. Hyperplastic polyposis syndrome: phenotypic presentations and the role of MBD4 and MYH. Gastroenterology. 2006;131:30–9.PubMedCrossRefGoogle Scholar
  19. 19.
    Carvajal-Carmona LG, Howarth KM, Lockett M, Polanco-Echeverry GM, Volikos E, Gorman M, et al. Molecular classification and genetic pathways in hyperplastic polyposis syndrome. J Pathol. 2007;212:378–85.PubMedCrossRefGoogle Scholar
  20. 20.
    Higuchi T, Jass JR. My approach to serrated polyps of the colorectum. J Clin Pathol. 2004;57:682–6.PubMedCrossRefGoogle Scholar
  21. 21.
    Yeoman A, Young J, Arnold J, Jass J, Parry S. Hyperplastic polyposis in the New Zealand population: a condition associated with increased colorectal cancer risk and European ancestory. NZMed J. 2007;120:31–9.Google Scholar
  22. 22.
    Williams GT, Arthur JF, Bussey HJ, Morson BC. Metaplastic polyps and polyposis of the colorectum. Histopathology. 1980;4:155–70.PubMedCrossRefGoogle Scholar
  23. 23.
    Leggett BA, Devereaux B, Biden K, Searle J, Young J, Jass J. Hyperplastic polyposis: association with colorectal cancer. Am J Surg Pathol. 2001;25:177–84.PubMedCrossRefGoogle Scholar
  24. 24.
    Bengoechea O, Martinez-Penuela JM, Larrinaga B, Valerdi J, Borda F. Hyperplastic polyposis of the colorectum and adenocarcinoma in a 24-year-old man. Am J Surg Pathol. 1987;11:323–7.PubMedCrossRefGoogle Scholar
  25. 25.
    Cohen SM, Brown L, Janower ML, McCready FJ. Multiple metaplastic (hyperplastic) polyposis of the colon. Gastrointest Radiol. 1981;6:333–5.PubMedCrossRefGoogle Scholar
  26. 26.
    Keljo DJ, Weinberg AG, Winick N, Tomlinson G. Rectal cancer in an 11-year-old girl with hyperplastic polyposis. J Pediatr Gastroenterol Nutr. 1999;28:327–32.PubMedCrossRefGoogle Scholar
  27. 27.
    Renaut AJ, Douglas PR, Newstead GL. Hyperplastic polyposis of the colon and rectum. Colorectal Dis. 2002;4:213–5.PubMedCrossRefGoogle Scholar
  28. 28.
    Jass JR, Do KA, Simms LA, Iino H, Wynter C, Pillay SP, et al. Morphology of sporadic colorectal cancer with DNA replication errors. Gut. 1998;42:673–9.PubMedCrossRefGoogle Scholar
  29. 29.
    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(7):1774–80.PubMedCrossRefGoogle Scholar
  30. 30.
    Higuchi T, Sugihara K, Jass JR. Demographic and pathological characteristics of serrated polyps of colorectum. Histopathology. 2005;47:32–40.PubMedCrossRefGoogle Scholar
  31. 31.
    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.PubMedCrossRefGoogle Scholar
  32. 32.
    Cooper HS, Patchefsky AS, Marks G. Adenomatous and carcinomatous changes within hyperplastic colonic epithelium. Dis Colon Rectum. 1979;22:152–6.PubMedCrossRefGoogle Scholar
  33. 33.
    Williams GT, Arthur JF, Bussey HJR, Morson BC. Metaplastic polyps and polyposis of the colorectum. Histopathology. 1980;4:155–70.PubMedCrossRefGoogle Scholar
  34. 34.
    Azimuddin K, Stasik JJ, Khubchandani IT, Rosen L, Riether RD, Scarlatto M. Hyperplastic polyps: “more than meets the eye”? Report of sixteen cases. Dis Colon Rectum. 2000;43:1309–13.PubMedCrossRefGoogle Scholar
  35. 35.
    Beusnel C, Le Berre N, Pagenault M, et al. [Giant hyperplastic polyposis with adenomatous tissue]. Gastroentérol Clin Biol. 1996;20:294–7.PubMedGoogle Scholar
  36. 36.
    Ferrandez A, Samowitz W, DiSario JA, Burt RW. Phenotypic characteristics and risk of cancer development in hyperplastic polyposis: case series and literature review. Am J Gastroenterol. 2004;99:2012–8.PubMedCrossRefGoogle Scholar
  37. 37.
    Hawkins NJ, Gorman P, Tomlinson IP, Bullpitt P, Ward RL. Colorectal carcinomas arising in the hyperplastic polyposis syndrome progress through the chromosomal instability pathway. Am J Pathol. 2000;157:385–92.PubMedCrossRefGoogle Scholar
  38. 38.
    Hyman NH, Anderson P, Blasyk H. Hyperplastic polyposis and the risk of colorectal cancer. Dis Colon Rectum. 2004;47:2101–4.PubMedCrossRefGoogle Scholar
  39. 39.
    Jass JR, Cottier DS, Pokos V, Parry S, Winship IM. Mixed epithelial polyps in association with hereditary non-polyposis colorectal cancer providing an alternative pathway of cancer histogenesis. Pathology. 1997;29:28–33.PubMedCrossRefGoogle Scholar
  40. 40.
    Jeevaratnam P, Cottier DS, Browett PJ, Van De Water NS, Pokos V, Jass JR. Familial giant hyperplastic polyposis predisposing to colorectal cancer: a new hereditary bowel cancer syndrome. J Pathol. 1996;179:20–5.PubMedCrossRefGoogle Scholar
  41. 41.
    Koide N, Saito Y, Fujii T, Kondo H, Saito D, Shimoda T. A case of hyperplastic polyposis of the colon with adenocarcinomas in hyperplastic polyps after long-term follow-up. Endoscopy. 2002;34:499–502.PubMedCrossRefGoogle Scholar
  42. 42.
    Kusunoki M, Fujita S, Sakanoue Y, Shoji Y, Yanagi H, Yamamura T, et al. Disappearance of hyperplastic polyposis after resection of rectal cancer. Report of two cases. Dis Colon Rectum. 1991;34:829–32.PubMedCrossRefGoogle Scholar
  43. 43.
    Lage P, Cravo M, Sousa R, Chaves P, Salazar M, Fonseca R, et al. Management of portuguese patients with hyperplastic polyposis and screening of at-risk first-degree relatives: a contribution for future guidelines based on a clinical study. Am J Gastroenterol. 2004;99:1779–84.PubMedCrossRefGoogle Scholar
  44. 44.
    Lieverse RJ, Kibbelaar RE, Griffioen G, Lamers CB. Colonic adenocarcinoma in a patient with multiple hyperplastic polyps. Neth J Med. 1995;46:185–8.PubMedCrossRefGoogle Scholar
  45. 45.
    McCann BG. A case of metaplastic polyposis of the colon associated with focal adenomatous change and metachronous adenocarcinomas. Histopathology. 1988;13:700–2.PubMedCrossRefGoogle Scholar
  46. 46.
    Oberschmid BI, Dietmaier W, Hartmann A, Dahl E, Klopocki E, Beatty BG, et al. Distinct secreted Frizzled receptor protein 1 staining pattern in patients with hyperplastic polyposis coli syndrome. Arch Pathol Lab Med. 2004;128:967–73.PubMedGoogle Scholar
  47. 47.
    Orii S, Nakamura S, Sugai T, Habano W, Akasaka I, Nakasima F, et al. Hyperplastic (metaplastic) polyposis of the colorectum associated with adenomas and an adenocarcinoma. J Clin Gastroenterol. 1997;25:369–72.PubMedCrossRefGoogle Scholar
  48. 48.
    Place RJ, Simmang CL, D’Souza R, Aragona C, Hodgkin L, et al. Hyperplastic-adenomatous polyposis syndrome. J Am Coll Surg. 1999;188:503–7.PubMedCrossRefGoogle Scholar
  49. 49.
    Rashid A, Houlihan PS, Booker S, Petersen GM, Giardiello FM, Hamilton SR. Phenotypic and molecular characteristics of hyperplastic polyposis. Gastroenterology. 2000;119:323–32.PubMedCrossRefGoogle Scholar
  50. 50.
    Shepherd NA. Inverted hyperplastic polyposis of the colon. J Clin Pathol. 1993;46:56–60.PubMedCrossRefGoogle Scholar
  51. 51.
    Sumner HW, Wasserman NF, McClain CJ. Giant hyperplastic polyposis of the colon. Dig Dis Sci. 1981;26:85–9.PubMedCrossRefGoogle Scholar
  52. 52.
    Teoh HH, Delahunt B, Isbister WH. Dysplastic and malignant areas in hyperplastic polyps of the large intestine. Pathology. 1989;21:138–42.PubMedCrossRefGoogle Scholar
  53. 53.
    Tulman AB, Bradford S, Lee E, Brady PG. Giant hyperplastic polyps associated with ­vasculitis of colon. J Fla Med Assoc. 1982;69:380–3.PubMedGoogle Scholar
  54. 54.
    Warner AS, Glick ME, Fogt F. Multiple large hyperplastic polyps of the colon coincident with adenocarcinoma. Am J Gastroenterol. 1994;89:123–5.PubMedGoogle Scholar
  55. 55.
    Goldstein NS. Clinical significance of (sessile) serrated adenomas: another piece of the puzzle. Am J Clin Pathol. 2005;123:329–30.PubMedCrossRefGoogle Scholar
  56. 56.
    Goldstein NS, Bhanot P, Odish E, Hunter S. Hyperplastic-like colon polyps that preceded microsatellite-unstable adenocarcinomas. Am J Clin Pathol. 2003;119:778–96.PubMedCrossRefGoogle Scholar
  57. 57.
    Jass JR. Hyperplastic-like polyps as precursors of microsatellite-unstable colorectal cancer. Am J Clin Pathol. 2003;119:773–5.PubMedCrossRefGoogle Scholar
  58. 58.
    Montgomery E. Serrated colorectal polyps: emerging evidence suggests the need for a reappraisal. Adv Anat Pathol. 2004;11:143–9.PubMedCrossRefGoogle Scholar
  59. 59.
    Torlakovic E, Skovlund E, Snover DC, Torlakovic G, Nesland JM. Morphologic reappraisal of serrated colorectal polyps. Am J Surg Pathol. 2003;27:65–81.PubMedCrossRefGoogle Scholar
  60. 60.
    Torlakovic E, Snover DC. Sessile serrated adenoma: a brief history and current status. Crit Rev Oncog. 2006;12:27–39.PubMedCrossRefGoogle Scholar
  61. 61.
    Ferrandez A, Samowitz W, DiSario JA, Burt RW. Phenotypic characteristics and risk of cancer development in hyperplastic polyposis: case series and literature review. Am J Gastroenterol. 2004;99:2012–8.PubMedCrossRefGoogle Scholar
  62. 62.
    Burt RW, Samowitz WS. Serrated adenomatous polyposis: a new syndrome? Gastroenterology. 1996;110:950–2.PubMedCrossRefGoogle Scholar
  63. 63.
    Jass JR. Classification of colorectal cancer based on correlation of clinical, morphological and molecular features. Histopathology. 2007;50:113–30.PubMedCrossRefGoogle Scholar
  64. 64.
    Smith G, Carey FA, Beattie J, Wilkie MJ, Lightfoot TJ, Coxhead J, et al. Mutations in APC, Kirsten-ras, and p53 – Alternative genetic pathways to colorectal cancer. Proc Natl Acad Sci U S A. 2002;99:9433–8.PubMedCrossRefGoogle Scholar
  65. 65.
    Aaltonen LA, Peltomaki P, Leach FS, Sistonen P, Pylkkanen L, Mecklin JP, et al. Clues to the pathogenesis of familial colorectal cancer. Science. 1993;260:812–6.PubMedCrossRefGoogle Scholar
  66. 66.
    Thibodeau SN, Bren G, Schaid D. Microsatellite instability in cancer of the proximal colon. Science. 1993;260:816–9.PubMedCrossRefGoogle Scholar
  67. 67.
    Kane MF, Loda M, Gaida GM, Lipman J, Mishra R, Goldman H, et al. Methylation of the hMLH1 promoter correlates with lack of expression of hMLH1 in sporadic colon tumors and mismatch repair-defective human tumor cell lines. Cancer Res. 1997;57:808–11.PubMedGoogle Scholar
  68. 68.
    Biemer-Huttmann AE, Walsh MD, McGuckin MA, Ajioka Y, Watanabe H, Leggett BA, et al. Immunohistochemical staining patterns of MUC1, MUC2, MUC4, and MUC5AC mucins in hyperplastic polyps, serrated adenomas, and traditional adenomas of the colorectum. J Histochem Cytochem. 1999;47:1039–48.PubMedCrossRefGoogle Scholar
  69. 69.
    Biemer-Huttmann AE, Walsh MD, McGuckin MA, Simms LA, Young J, Legget BA, et al. Mucin core protein expression in colorectal cancers with high levels of microsatellite instability indicates a novel pathway of morphogenesis. Clin Cancer Res. 2000;6:1909–16.PubMedGoogle Scholar
  70. 70.
    Jass JR, Whitehall VL, Young J, Leggett BA. Emerging concepts in colorectal neoplasia. Gastroenterology. 2002;123:862–76.PubMedCrossRefGoogle Scholar
  71. 71.
    Rosenberg DW, Yang S, Pleau DC, Greenspan EJ, Stevens RG, Ragan TV, et al. Mutations in BRAF and KRAS differentially distinguish serrated versus non-serrated hyperplastic aberrant crypt foci in humans. Cancer Res. 2007;67:3551–4.PubMedCrossRefGoogle Scholar
  72. 72.
    Shivapurkar N, Huang L, Ruggeri B, Swalsky PA, Bakker A, Finklestein S, et al. K-ras and p53 mutations in aberrant crypt foci and colonic tumors from colon cancer patients. Cancer Lett. 1997;115:39–46.PubMedCrossRefGoogle Scholar
  73. 73.
    Yamashita N, Minamoto T, Ochiai A, Onda M, Esumi H. Frequent and characteristic K-ras activation in aberrant crypt foci of colon. Is there preference among K-ras mutants for malignant progression? Cancer. 1995;75:1527–33.PubMedCrossRefGoogle Scholar
  74. 74.
    Yamashita N, Minamoto T, Ochiai A, Onda M, Esumi H. Frequent and characteristic K-ras activation and absence of p53 protein accumulation in aberrant crypt foci of the colon. Gastroenterology. 1995;108:434–40.PubMedCrossRefGoogle Scholar
  75. 75.
    Smith AJ, Stern HS, Penner M, Hay K, Mitri A, Bapat BV, et al. Somatic APC and K-ras codon 12 mutations in aberrant crypt foci from human colons. Cancer Res. 1994;54:5527–30.PubMedGoogle Scholar
  76. 76.
    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.PubMedCrossRefGoogle Scholar
  77. 77.
    Beach R, Chan AO, Wu TT, White JA, Morris JS, Lunagomez S, et al. BRAF mutations in aberrant crypt foci and hyperplastic polyposis. Am J Pathol. 2005;166:1069–75.PubMedCrossRefGoogle Scholar
  78. 78.
    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.PubMedCrossRefGoogle Scholar
  79. 79.
    Yang S, Farraye FA, Mack C, Posnik O, O’Brien MJ. BRAF and KRAS mutations in hyperplastic polyps and serrated adenomas of the colorectum: relationship to histology and CpG island methylation status. Am J Surg Pathol. 2004;28:1452–9.PubMedCrossRefGoogle Scholar
  80. 80.
    Chan AO, Issa JP, Morris JS, Hamilton SR, Rashid A. Concordant CpG island methylation in hyperplastic polyposis. Am J Pathol. 2002;160:529–36.PubMedCrossRefGoogle Scholar
  81. 81.
    Jass JR, Iino H, Ruszkiewicz A, Painter D, Solomon MJ, Koorey DJ, et al. Neoplastic progression occurs through mutator pathways in hyperplastic polyposis of the colorectum. Gut. 2000;47:43–9.PubMedCrossRefGoogle Scholar
  82. 82.
    Minoo P, Baker K, Goswami R, Chong G, Foulkes WD, Ruszkiewicz AR, et al. Extensive DNA methylation in normal colorectal mucosa in hyperplastic polyposis. Gut. 2006.Google Scholar
  83. 83.
    Wynter CV, Walsh MD, Higuchi T, Leggett BA, Young J, Jass JR. Methylation patterns define two types of hyperplastic polyp associated with colorectal cancer. Gut. 2004;53:573–80.PubMedCrossRefGoogle Scholar
  84. 84.
    Young J, Barker MA, Simms LA, Walsh MD, Biden KG, Buchanan D, 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.PubMedCrossRefGoogle Scholar
  85. 85.
    Samowitz WS, Sweeney C, Herrick J, Albertsen H, Levin TR, Murtaugh MA, et al. Poor survival associated with the BRAF V600E mutation in microsatellite-stable colon cancers. Cancer Res. 2005;65:6063–9.PubMedCrossRefGoogle Scholar
  86. 86.
    Hawkins N, Norrie M, Cheong K, Mokay E, Ku SL, Meagher A, et al. CpG island methylation in sporadic colorectal cancers and its relationship to microsatellite instability. Gastroenterology. 2002;122:1376–87.PubMedCrossRefGoogle Scholar
  87. 87.
    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.PubMedCrossRefGoogle Scholar
  88. 88.
    Yuen ST, Davies H, Chan TL, Ho JW, Bignell GR, Coc C, et al. Similarity of the phenotypic patterns associated with BRAF and KRAS mutations in colorectal neoplasia. Cancer Res. 2002;62:6451–5.PubMedGoogle Scholar
  89. 89.
    Rashid A, Houlihan S, Booker S, Petersen GM, Giardiello FM, Hamilton SR. Phenotypic and molecular characteristics of hyperplastic polyposis. Gastroenterology. 2000;119:323–32.PubMedCrossRefGoogle Scholar
  90. 90.
    Yang S, Farraye FA, Mack C, Posnik O, O’Brien MJ. BRAF and KRAS mutations in hyperplastic polyps and serrated adenomas of the colorectum: relationship to histology and CpG island methylation status. Am J Surg Pathol. 2004;28:1452–9.PubMedCrossRefGoogle Scholar
  91. 91.
    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.PubMedCrossRefGoogle Scholar
  92. 92.
    Kambara T, Simms LA, Whitehall VLJ, Spring KJ, Wynter CV, Walsh MD, et al. BRAF mutation and CpG island methylation: an alternative pathway to colorectal cancer. Gut. 2004;53:1137–44.PubMedCrossRefGoogle Scholar
  93. 93.
    Minoo P, Baker K, Goswami R, Chong G, Foulkes WD, Ruskiewicz AR, et al. Extensive DNA methylation in normal colorectal mucosa in hyperplastic polyposis. Gut. 2006;55:1467–74.PubMedCrossRefGoogle Scholar
  94. 94.
    Boparai KS, Dekker E, van Eeden S, Polack MM, Bartlesman JF, Mathus-Vliegen EM, et al. Hyperplastic Polyps and Sessile Serrated Adenomas as a Phenotypic Expression of MYH-associated Polyposis. Gastroenterology. 2008;135:2014–8Google Scholar
  95. 95.
    Issa JP, Shen L, Toyota M. CIMP, at last. Gastroenterology. 2005;129:1121–4.PubMedCrossRefGoogle Scholar
  96. 96.
    Samowitz WS, Albertsen H, Herrick J, Levin TR, Sweeney L, Murtaugh MA, et al. Evaluation of a large, population-based sample supports a CpG island methylator phenotype in colon cancer. Gastroenterology. 2005;129:837–45.PubMedCrossRefGoogle Scholar
  97. 97.
    Weisenberger DJ, Siegmund KD, Campan M, 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.PubMedCrossRefGoogle Scholar
  98. 98.
    Vandrovcova J, Lagerstedt-Robinsson K, Pahlman L, Lindblom A. Somatic BRAF-V600E Mutations in Familial Colorectal Cancer. Cancer Epidemiol Biomark Prev. 2006;15:2270–3.CrossRefGoogle Scholar
  99. 99.
    Chow E, Lipton L, Lynch E, D’Souza R, Aragona C, Hodgkin L, et al. Hyperplastic polyposis syndrome: phenotypic ­presentations and the role of MBD4 and MYH. Gastroenterology. 2006;131:30–9.PubMedCrossRefGoogle Scholar
  100. 100.
    Jenkins MA, Baglietto L, Dite GS, Jolley DJ, Southey MC, Whitty J, et al. After hMSH2 and hMLH1–what next? Analysis of three-generational, population-based, early-onset colorectal cancer families. Int J Cancer. 2002;102:166–71.PubMedCrossRefGoogle Scholar
  101. 101.
    Croitoru ME, Cleary SP, Berk T, DiNicola N, Kopolovic I, Bapat B, et al. Germline MYH mutations in a clinic-based series of Canadian multiple colorectal adenoma patients. J Surg Oncol. 2007;95:499–506.Google Scholar
  102. 102.
    Croitoru ME, Cleary SP, Di Nicola N, Manno M, Selander T, Aronson M, et al. Association between biallelic and monoallelic germline MYH gene mutations and colorectal cancer risk. J Natl Cancer Inst. 2004;96:1631–4.PubMedCrossRefGoogle Scholar
  103. 103.
    Enholm S, Hienonen T, Suomalainen A, Lipton L, Karja V, Eskelinen M, et al. Proportion and phenotype of MYH-associated colorectal neoplasia in a population-based series of Finnish colorectal cancer patients. Am J Pathol. 2003;163:827–32.PubMedCrossRefGoogle Scholar
  104. 104.
    Farrington SM, Tenesa A, Barnetson R, Wiltsher A, Prendergast J, Porteous M, et al. Germline susceptibility to colorectal cancer due to base-excision repair gene defects. Am J Hum Genet. 2005;77:112–9.PubMedCrossRefGoogle Scholar
  105. 105.
    Jenkins MA, Croitoru ME, Monga N, Cleary SP, Cotterchio M, Hopper JL, et al. Risk of colorectal cancer in monoallelic and biallelic carriers of MYH mutations: a population-based case-family study. Cancer Epidemiol Biomarkers Prev. 2006;15:312–4.PubMedCrossRefGoogle Scholar
  106. 106.
    Kambara T, Whitehall VL, Spring KJ, Barker MA, Arnold S, Wynter CV, et al. Role of inherited defects of MYH in the development of sporadic colorectal cancer. Genes Chromosomes Cancer. 2004;40:1–9.PubMedCrossRefGoogle Scholar
  107. 107.
    Peterlongo P, Mitra N, Sanchez de Abajo A, de la hoya M, Bassi C, Bertario L, et al. Increased frequency of disease-causing MYH mutations in colon cancer families. Carcinogenesis. 2006;27:2243–9.PubMedCrossRefGoogle Scholar
  108. 108.
    Tenesa A, Farrington SM, Dunlop MG. Re: Association between biallelic and monoallelic germline MYH gene mutations and colorectal cancer risk. J Natl Cancer Inst. 2005;97:320–1.PubMedCrossRefGoogle Scholar
  109. 109.
    Wang L, Baudhuin LM, Boardman LA, Steenblock KJ, Petersen GM, Jarvinen H, et al. MYH mutations in patients with attenuated and classic polyposis and with young-onset colorectal cancer without polyps. Gastroenterology. 2004;127:9–16.PubMedCrossRefGoogle Scholar
  110. 110.
    Buchanan DD, Young JP. A perspective on Bi-allelic MUTYH mutations in patients with hyperplastic polyposis syndrome. Gastroenterology. 2009;136(7):2407–8.PubMedCrossRefGoogle Scholar
  111. 111.
    Kokko A, Laiho P, Lehtonen R, Korja S, Carvajal-Carmona LG, Jarvinen H, et al. EPHB2 germline variants in patients with colorectal cancer or hyperplastic polyposis. BMC Cancer. 2006;6:145.PubMedCrossRefGoogle Scholar
  112. 112.
    Keljo DJ, Weinberg AG, Winick N, Tomlinson GA. Rectal cancer in an 11-year-old girl with hyperplastic polyposis. J Pediatr Gastroenterol Nutr. 1999;28:327–32.PubMedCrossRefGoogle Scholar
  113. 113.
    Bengoechea O, Martinez-Penuela JM, Larrinaga B, Borda F. Hyperplastic polyposis of the colorectum and adenocarcinoma in a 24 year old man. Am J Surg Pathol. 1987;11:323–7.PubMedCrossRefGoogle Scholar
  114. 114.
    Minoo P, Baker K, Goswami R, Chong G, Foulkes WD, Ruszkiewicz AR, et al. Extensive DNA methylation in normal colorectal mucosa in hyperplastic polyposis. Gut. 2006;55:1467–74.PubMedCrossRefGoogle Scholar
  115. 115.
    Jass JR, Iino H, Ruszkiewicz A, Painter D, Solomon MJ, Koorey DJ, et al. Neoplastic progression occurs through mutator pathways in hyperplastic polyposis of the colorectum. Gut. 2000;47:43–9.PubMedCrossRefGoogle Scholar
  116. 116.
    Lages P, Cravo M, Sousa R, Chaves P, Salazar M, Fonseca R, et al. Management of Portuguese patients with hyperplastic polyposis and screening of at-risk first-degree relatives: a contribution for future guidelines based on a clinical study. Am J Gastroenterol. 2004;99:1779–84.CrossRefGoogle Scholar
  117. 117.
    Young J, Barker MA, Simms LA, Walsh MD, Biden KG, Buchanan D, et al. BRAF mutation and variable levels of microsatellite instability characterize a syndrome of familial colorectal cancer. Clin Gastroenterol Hepatol. 2005;3:254–63.PubMedCrossRefGoogle Scholar
  118. 118.
    Lazarus R, Junttila OE, Karttunen TJ, Makinen MJ. The risk of metachronous neoplasia in patients with serrated adenoma. Am J Clin Pathol. 2005;123:349–59.PubMedCrossRefGoogle Scholar
  119. 119.
    Farrar WD, Sawhney MS, Nelson DB, Lederle FA, Bond JH. Colorectal cancers found after a complete colonoscopy. Clin Gastroenterol Hepatol. 2006;4:1259–64.PubMedCrossRefGoogle Scholar
  120. 120.
    Sawhney MS, Farrar WD, Gudiseva S, Nelson DB, Lederle FA, Rector TS, et al. Microsatellite instability in interval colon cancers. Gastroenterology. 2006;131:1700–5.PubMedCrossRefGoogle Scholar
  121. 121.
    Winawer SJ, Zauber AG, Fletcher RH, Stillman JS, O’Brien MJ, Levin B, et al. Guidelines for colonoscopy surveillance after polypectomy: a consensus update by the US Multi-Society Task Force on Colorectal Cancer and the American Cancer Society. Gastroenterology. 2006;130:1872–85.PubMedCrossRefGoogle Scholar
  122. 122.
    Skoglund J, Djureinovic T, Zhou XL, Vandracova J, Renkonen E, Iselius L, et al. Linkage analysis in a large Swedish family ­supports the presence of a susceptibility locus for adenoma and colorectal cancer on ­chromosome 9q22.32-31.1. J Med Genet. 2006;43:e7.PubMedCrossRefGoogle Scholar
  123. 123.
    Walsh MD, Buchanan DD, Walters R, Roberts A, Arnold S, McKeone D, et al. Analysis of families with Lynch syndrome complicated by advanced serrated neoplasia: the importance of pathology review and pedigree analysis. Fam Cancer. 2009;8(4):313–23.PubMedCrossRefGoogle Scholar
  124. 124.
    Young J, Jenkins M, Parry S, Young B, Nancarrow D, English D, et al. Serrated pathway colorectal cancer in the population: genetic consideration. Gut. 2007;56:1453–9.PubMedCrossRefGoogle Scholar

Copyright information

© Springer Science+Business Media, LLC 2010

Authors and Affiliations

  1. 1.Familial Cancer LaboratoryQueensland Institute of Medical ResearchHerstonAustralia

Personalised recommendations