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Pathologie pp 727–759Cite as

Hereditäre Tumoren

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Zusammenfassung

In diesem Kapitel werden die erblichen Formen des Dickdarmkarzinoms systematisch aufgeführt. Um die Bedeutung der Pathologie für die Primärdiagnostik erblicher Tumoren herauszustellen, werden vor allem die pathomorphologisch diagnostisch hinweisenden Befunde genauer dargestellt. Zur Verbesserung des Verständnisses der genetischen Grundlagen und der Einordnung klinischer Befunde wurden zahlreiche graphische Darstellungen eingefügt. Ferner ist der aktuelle Wissenstand zu Genetik, Pathologie und Vorsorge für jedes einzelne Syndrom zusammenfassend tabellarisch dargestellt.

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Literatur

  1. Abraham SC, Park SJ, Mugartegui L, Hamilton SR, Wu TT (2002) Sporadic fundic gland polyps with epithelial dysplasia : evidence for preferential targeting for mutations in the adenomatous polyposis coli gene. Am J Pathol 161:1735–1742

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  2. Aaltonen LA, Peltomäki P, Leach FS et al (1993) Clues of the pathogenesis of familial colorectal cancer. Science 260:812–816

    Article  CAS  PubMed  Google Scholar 

  3. Acharya S, Foster PL, Brooks P, Fishel R (2003) The coordinated functions of the E. coli MutS and MutL proteins in mismatch repair. Mol Cell 12:233–246

    Article  CAS  PubMed  Google Scholar 

  4. Alhopuro P, Phichith D, Tuupanen S et al (2008) Unregulated smooth-muscle myosin in human intestinal neoplasia. Proc Natl Acad Sci USA 105:5513–5518

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  5. Aretz S (2010) The differential diagnosis and surveillance of hereditary gastrointestinal polyposis syndromes. Dtsch Arztebl Int 107:163–173

    PubMed  PubMed Central  Google Scholar 

  6. Aretz S, Uhlhaas S, Caspari R, Mangold E, Pagenstecher C, Propping P, Friedl W (2004) Frequency and parental origin of de novo APC mutations in familial adenomatous polyposis. Eur J Hum Genet 12:52–58

    Article  CAS  PubMed  Google Scholar 

  7. Arnold D, Fietkau R, Hegewisch-Becker S (2011) Gastrointestinale Tumoren – interdisziplinäre Diskussion neuer Daten. Onkologie 34(Suppl 3):2–31

    Google Scholar 

  8. Baker K, Foulkes WD, Jass JR (2009) MSI-H colorectal cancers preferentially retain and expand intraepithelial lymphocytes rather than peripherally derived CD8+ T cells. Cancer Immunol Immunother 58:135–144

    Article  CAS  PubMed  Google Scholar 

  9. Bao F, Panarelli NC, Rennert H, Sherr DL, Yantiss RK (2010) Neoadjuvant therapy induces loss of MSH6 expression in colorectal carcinoma. Am J Surg Pathol 34:1798–1804

    Article  PubMed  Google Scholar 

  10. Boland CR, Thibodeau SN, Hamilton SR et al (1998) A National Cancer Institute Workshop on Microsatellite Instability for cancer detection and familial predisposition: development of international criteria for the determination of microsatellite instability in colorectal cancer. Cancer Res 58:5248–5257

    CAS  PubMed  Google Scholar 

  11. Boparai KS, Reitsma JB, Lemmens V et al (2010) Increased colorectal cancer risk in first-degree relatives of patients with hyperplastic polyposis syndrome. Gut 59:1222–1225

    Article  CAS  PubMed  Google Scholar 

  12. Bosman FT, Carneiro F, Hruban RH, Theise ND (2010) WHO Classification of tumours of the digestive system. IARC Press, Lyon, S 184–193

    Google Scholar 

  13. Bosserhoff AK, Grussendorf-Conen EI, Rübben A, Rudnik-Schöneborn S, Zerres K, Buettner R, Merkelbach-Bruse S (2006) Multiple colon carcinomas in a patient with Cowden syndrome. Int J Mol Med 18:643–647

    CAS  PubMed  Google Scholar 

  14. Brosens LA, van Hattem A, Iacobuzio-Donahue C, Hylind LM et al (2007) Risk of colorectal cancer in juvenile polyposis. Gut 56:965–967

    Article  PubMed  PubMed Central  Google Scholar 

  15. Buchanan DD, Sweet K, Drini M et al (2010) Phenotypic diversity in patients with multiple serrated polyps: a genetics clinic study. Int J Colorectal Dis 25:703–712

    Article  PubMed  PubMed Central  Google Scholar 

  16. Burn J, Gerdes AM, Macrae F et al (2011) Long-term effect of aspirin on cancer risk in carriers of hereditary colorectal cancer: an analysis from the CAPP2 randomised controlled trial. Lancet 378:2081–2087

    Article  PubMed  PubMed Central  Google Scholar 

  17. Burt RW (2003) Gastric fundic gland polyps. Gastroenterology 125(5):1462–1469

    Article  PubMed  Google Scholar 

  18. Chow E, Lipton L, Lynch E et al (2006) Hyperplastic polyposis syndrome: phenotypic presentations and the role of MBD4 and MYH. Gastroenterology 131:30–39

    Article  CAS  PubMed  Google Scholar 

  19. Claes K, Dahan K, Tejpar S et al (2011) The genetics of familial adenomatous polyposis (FAP) and MutYH-associated polyposis (MAP). Acta Gastroenterol Belg 74:421–426

    PubMed  Google Scholar 

  20. Cleary SP, Cotterchio M, Jenkins MA et al (2009) Germline MutY human homologue mutations and colorectal cancer: a multisite case-control study. Gastroenterology 136:1251–1260

    Article  CAS  PubMed  Google Scholar 

  21. Colombo C, Foo WC, Whiting D, Young ED, Lusby K, Pollock RE, Lazar AJ, Lev D (2012) FAP-related desmoid tumors: a series of 44 patients evaluated in a cancer referral center. Histol Histopathol 27:641–649

    PubMed  Google Scholar 

  22. Cunningham JM, Kim CY, Christensen ER et al (2001) The frequency of hereditary defective mismatch repair in a prospective series of unselected colorectal carcinomas. Am J Hum Genet 69:780–790

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  23. Dietmaier W, Wallinger S, Bocker T, Kullmann F, Fishel R, Rüschoff J (1997) Diagnostic microsatellite instability: definition and correlation with mismatch repair protein expression. Cancer Res 57:4749–4756

    CAS  PubMed  Google Scholar 

  24. Drini M, Speer A, Dow C, Collier N, Bhathal P, Macrae FA (2011) Management of duodenal adenomatosis in FAP: single centre experience. Fam Cancer 11:167–173

    Article  Google Scholar 

  25. Eng Ch, Eng C, Burt RW (2010) Cowden syndrome. In: Bosman FT, Carneiro F, Hruban RH, Theise ND (Hrsg) WHO Classification of tumours of the digestive system. IARC Press, Lyon, S 171–173

    Google Scholar 

  26. Engel C, Forberg J, Holinski-Feder E et al (2006) Novel strategy for optimal sequential application of clinical criteria, immunohistochemistry and microsatellite analysis in the diagnosis of hereditary nonpolyposis colorectal cancer. Int J Cancer 118:115–122

    Article  CAS  PubMed  Google Scholar 

  27. Escobar C, Munker R, Thomas JO, Li BD, Burton GV (2012) Update on desmoid tumors. Ann Oncol 23:562–569

    Article  CAS  PubMed  Google Scholar 

  28. Evans DG, Howard E, Giblin C, Clancy T, Spencer H, Huson SM, Lalloo F (2010) Birth incidence and prevalence of tumor-prone syndromes: estimates from a UK family genetic register service. Am J Med Genet 152:327–332

    Article  Google Scholar 

  29. Fearon ER, Vogelstein B (1990) A genetic model for colorectal tumorigenesis. Cell 61:759–767

    Article  CAS  PubMed  Google Scholar 

  30. Fodde R (2002) The APC gene in colorectal cancer. Eur J Cancer 38:867–871

    Article  CAS  PubMed  Google Scholar 

  31. Fodde R, Khan PM (1995) Genotype-phenotype correlations at the adenomatous polyposis coli (APC) gene. Crit Rev Oncog 6:291–303

    Article  CAS  PubMed  Google Scholar 

  32. Friedl W, Aretz S (2005) Familial adenomatous polyposis: experience from a study of 1164 unrelated german polyposis patients. Hered Cancer Clin Pract 3:95–114

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  33. Friedl W, Uhlhaas S, Schulmann K et al (2002) Juvenile polyposis: massive gastric polyposis is more common in MADH4 mutation carriers than in BMPR1 A mutation carriers. Hum Genet 111:108–111

    Article  CAS  PubMed  Google Scholar 

  34. Gendiagnostikgesetz: http://www.gesetze-im-internet.de/bundesrecht/gendg/gesamt.pdf (1.2.2010)

    Google Scholar 

  35. Giardello FM, Burt RW, Järvinen HJ, Offerhaus GJA (2010) Familial adenomatous polyposis. In: Bosman FT, Carneiro F, Hruban RH, Theise ND (Hrsg) WHO Classification of tumours of the digestive system. IARC Press, Lyon, S 147–151

    Google Scholar 

  36. Grady WM, Carethers JM (2008) Genomic and epigenetic instability in colorectal cancer pathogenesis. Gastroenterology 135:1079–1099

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  37. Greenson JK, Huang SC, Herron C et al (2009) Pathologic predictors of microsatellite instability in colorectal cancer. Am J Surg Pathol 33:126–133

    Article  PubMed  PubMed Central  Google Scholar 

  38. Groves C, Lamlum H, Crabtree M et al (2002) Mutation cluster region, association between germline and somatic mutations and genotype-phenotype correlation in upper gastrointestinal familial adenomatous polyposis. Am J Pathol 160:2055–2061

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  39. Gustafson S, Zbuk KM, Scacheri C, Eng C (2007) Cowden syndrome. Semin Oncol 34:428–434

    Article  CAS  PubMed  Google Scholar 

  40. Han SH, Ryu JS, Kim YJ, Cho HI, Yang YH, Lee KR (2011) Mutation analysis of the APC gene in unrelated Korean patients with FAP: four novel mutations with unusual phenotype. Fam Cancer 10:21–26

    Article  CAS  PubMed  Google Scholar 

  41. Hartmann A, Dietmaier W, Hofstädter F, Burgart LJ, Cheville JC, Blaszyk H (2003) Urothelial carcinoma of the upper urinary tract: inverted growth pattern is predictive of microsatellite instability. Hum Pathol 34:222–227

    Article  PubMed  Google Scholar 

  42. Iino H, Jass JR, Simms LA et al (1999) DNA microsatellite instability in hyperplastic polyps, serrated adenomas, and mixed polyps: a mild mutator pathway for colorectal cancer? J Clin Pathol 52:5–9

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  43. Inoki K, Corradetti MN, Guan KL (2005) Dysregulation of the TSC-mTOR pathway in human disease. Nat Genet 37:19–24

    Article  CAS  PubMed  Google Scholar 

  44. Ionov Y, Peinado MA, Malkhosyan S, Shibata D, Perucho M (1993) Ubiquitous somatic mutations in simple repeated sequences reveal a new mechanism for colonic carcinogenesis. Nature 363:558–561

    Article  CAS  PubMed  Google Scholar 

  45. Jass JR, Iino H, Ruszkiewicz A et al (2000) Neoplastic progression occurs through mutator pathways in hyperplastic polyposis of the colorectum. Gut 47:43–49

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  46. Jeong C, Cho WK, Song KM, Cook C, Yoon TY, Ban C, Fishel R, Lee JB (2011) MutS switches between two fundamentally distinct clamps during mismatch repair. Nat Struct Mol Biol 18:379–385

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  47. Jones S, Emmerson P, Maynard J et al. (2002) Biallelic germline mutations in MYH predispose to multiple colorectal adenoma and somatic G:C–>T:A mutations. Hum Mol Genet 11: 2961–2967

    Google Scholar 

  48. Kasper B, Ströbel P, Hohenberger P (2011) Desmoid tumors: clinical features and treatment options for advanced disease. Oncologist 16:682–693

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  49. Kastrinos F, Syngal S (2007) Recently identified colon cancer predispositions: MYH and MSH6 mutations. Semin Oncol 34:418–424

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  50. Kempers MJ, Kuiper RP, Ockeloen CW et al (2011) Risk of colorectal and endometrial cancers in EPCAM deletion-positive Lynch syndrome: a cohort study. Lancet Oncol 12:49–55

    Article  PubMed  Google Scholar 

  51. Klarskov L, Holck S, Bernstein I, Okkels H, Rambech E, Baldetorp B, Nilbert M (2011) Challenges in the identification of MSH6-associated colorectal cancer: rectal location, less typical histology, and a subset with retained mismatch repair function. Am J Surg Pathol 35:1391–1399

    Article  PubMed  Google Scholar 

  52. Knudson Jr AG (1971) Mutation and cancer: statistical study of retinoblastoma. Proc Natl Acad Sci USA 68:820–823

    Article  PubMed  PubMed Central  Google Scholar 

  53. Krüger S, Kinzel M, Walldorf C et al (2008) Homozygous PMS2 germline mutations in two families with early-onset haematological malignancy, brain tumours, HNPCC-associated tumours, and signs of neurofibromatosis type 1. Eur J Hum Genet 16:62–72

    Article  PubMed  CAS  Google Scholar 

  54. Krüger S, Kinzel M, Walldorf C et al (2007) Homozygous PMS2 germline mutations in two families with early-onset haematological malignancy, brain tumours, HNPCC-associated tumours, and signs of neurofibromatosis type 1. Eur J Hum Genet 16:62–72

    Article  PubMed  CAS  Google Scholar 

  55. Kuwada SK, Burt R (2011) A rationale for mTOR inhibitors as chemoprevention agents in Peutz-Jeghers syndrome. Fam Cancer 10:469–472

    Article  CAS  PubMed  Google Scholar 

  56. Laiho P, Kokko A, Vanharanta S et al (2007) Serrated carcinomas form a subclass of colorectal cancer with distinct molecular basis. Oncogene 26:312–320

    Article  CAS  PubMed  Google Scholar 

  57. Laken SJ, Papadopoulos N, Petersen GM et al (1999) Analysis of masked mutations in familial adenomatous polyposis. Proc Natl Acad Sci USA 96:2322–2326

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  58. Laurent S, Franchimont D, Coppens JP et al (2011) Familial adenomatous polyposis: clinical presentation, detection and surveillance. Acta Gastroenterol Belg 74:415–420

    CAS  PubMed  Google Scholar 

  59. Leppert M, Burt R, Hughes JP et al (1990) Genetic analysis of an inherited predisposition to colon cancer in a family with a variable number of adenomatous polyps. N Engl J Med 322:904–908

    Article  CAS  PubMed  Google Scholar 

  60. Lefevre JH, Colas C, Coulet F, Bonilla C, Mourra N, Flejou JF, Tiret E, Bodmer W, Soubrier F, Parc Y (2010) MYH biallelic mutation can inactivate the two genetic pathways of colorectal cancer by APC or MLH1 transversions. Fam Cancer 9:589–594

    Article  PubMed  Google Scholar 

  61. Lichtenstein P, Holm NV, Verkasalo PK et al (2000) Environmental and heritable factors in the causation of cancer-analyses of cohorts of twins from Sweden, Denmark, and Finland. N Engl J Med 343:78–85

    Article  CAS  PubMed  Google Scholar 

  62. Lindor NM, Rabe K, Petersen GM et al (2005) Lower cancer incidence in Amsterdam-I criteria families without mismatch repair deficiency: familial colorectal cancer type X. JAMA 293:1979–1985

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  63. Lipton L, Halford SE, Johnson V et al (2003) Carcinogenesis in MYH-associated polyposis follows a distinct genetic pathway. Cancer Res 63:7595–7599

    CAS  PubMed  Google Scholar 

  64. Liu B, Parsons R, Papadopoulos N, Nicolaides N et al (1996) Analysis of mismatch repair genes in hereditary nonpolyposis colorectal cancer patients. Nat Medicine 2:169–174

    Article  CAS  Google Scholar 

  65. Lynch HT, Smyrk T, Lynch JF (1996) Overview of natural history, pathology, molecular genetics and management of HNPCC (Lynch syndrome). Int J Cancer 69:38–43

    Article  CAS  PubMed  Google Scholar 

  66. Lynch HT, de la Chapelle A (2003) Hereditary colorectal cancer. New Engl J Med 348:919–932

    Article  CAS  PubMed  Google Scholar 

  67. Lynch HT, Lynch JF, Attard TA (2009) Diagnosis and management of hereditary colorectal cancer syndromes: Lynch syndrome as a model. CMAJ 181:273–280

    Article  PubMed  PubMed Central  Google Scholar 

  68. Lynch HT, Lynch JF, Gatalica Z, Boland CR (2011) Lynch Syndrome: Its phenotypic and genotypic heterogeneity. Viszeralmedizin 27:266–273

    Article  Google Scholar 

  69. Lynch HT, Shaw MW, Magnuson CW, Larsen AL, Krsh AJ (1966) Hereditary factors in cancer. Study of two large midwestern kindreds. Arch Intern Med 117:206–212

    Article  CAS  PubMed  Google Scholar 

  70. Makinen MJ (2007) Colorectal serrated adenocarcinoma. Histopathology 50:131–150

    Article  CAS  PubMed  Google Scholar 

  71. Mandl M, Caspari R, Jauch A et al (1996) Familial adenomatous polyposis: a submicroscopic deletion at the APC locus in a family with mentally normal patients. Hum Genet 97:204–208

    Article  CAS  PubMed  Google Scholar 

  72. Mangold E, Pagenstecher C, Friedl W et al (2005) Tumours from MSH2 mutation carriers show loss of MSH2 expression but many tumours from MLH1 mutation carriers exhibit weak positive MLH1 staining. J Pathol 207:385–395

    Article  CAS  PubMed  Google Scholar 

  73. Mangold E, Pagenstecher C, Leister M et al (2004) A genotype-phenotype correlation in HNPCC: strong predominance of msh2 mutations in 41 patients with Muir-Torre syndrome. J Med Genet 41:567–572

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  74. Mangold E, Rahner N, Friedrichs N et al (2007) MSH6 mutation in Muir-Torre syndrome: could this be a rare finding? Br J Dermatol 156:158–162

    Article  CAS  PubMed  Google Scholar 

  75. Matsumoto T, Iida M, Kobori Y, Mizuno M, Nakamura S, Hizawa K, Yao T (2002) Serrated adenoma in familial adenomatous polyposis: relation to germline APC gene mutation. Gut 50:402–404

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  76. McIlhatton MA, Tyler J, Burkholder S, Ruschoff J, Rigas B, Kopelovich L, Fishel R (2007) Nitric oxide-donating aspirin derivatives suppress microsatellite instability in mismatch repair-deficient and hereditary nonpolyposis colorectal cancer cells. Cancer Res 67:10966–10975

    Article  CAS  PubMed  Google Scholar 

  77. Michel S, Kloor M, Singh S et al (2010) Coding microsatellite instability analysis in microsatellite unstable small intestinal adenocarcinomas identifies MARCKS as a common target of inactivation. Mol Carcinogenesis 49:175–182

    CAS  Google Scholar 

  78. Morreau H, Riddell RH, Aretz S (2010) MUTYH-associated polyposis. In: Bosman FT, Carneiro F, Hruban RH, Theise ND (Hrsg) WHO Classification of tumours of the digestive system. IARC Press, Lyon, S 156–159

    Google Scholar 

  79. Mueller JD, Haegle N, Keller G et al (1998) Loss of heterozygosity and microsatellite instability in de novo versus ex-adenoma carcinomas of the colorectum. Am J Pathol 153:1977–1984

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  80. Müller A, Beckmann C, Westphal G et al (2006) Prevalence of the mismatch-repair-deficient phenotype in colonic adenomas arising in HNPCC patients: results of a 5-year follow-up study. Int J Colorectal Dis 21:632–641

    Article  PubMed  Google Scholar 

  81. Müller A, Schackert HK, Lange B et al (2006) A novel MSH2 germline mutation in homozygous state in two brothers with colorectal cancers diagnosed at the age of 11 and 12 years. Am J Med Genet A 140:195–199

    Article  PubMed  CAS  Google Scholar 

  82. Nagasaka T, Rhees J, Kloor M, Gebert J, Naomoto Y, Boland CR, Goel A (2010) Somatic hypermethylation of MSH2 is a frequent event in Lynch Syndrome colorectal cancers. Cancer Res 70:3098–3108

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  83. Nagase H, Miyoshi Y, Horii A et al (1992) Screening for germ-line mutations in familial adenomatous polyposis patients: 61 new patients and a summary of 150 unrelated patients. Hum Mutat 1:467–473

    Article  CAS  PubMed  Google Scholar 

  84. Nielsen M, Joerink-van de Beld MC, Jones N et al (2009) Analysis of MUTYH genotypes and colorectal phenotypes in patients with MUTYH assoiated polyposis. Gastroenterology 136:471–476

    Article  CAS  PubMed  Google Scholar 

  85. Obermair A, Youlden DR, Young JP et al (2010) Risk of endometrial cancer for women diagnosed with HNPCC-related colorectal carcinoma. Int J Cancer 127:2678–2684

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  86. Oberschmid B, Homayounfar K, Büttner B, Rüschoff J, Müller-Dornieden A (2007) Patient mit multiplen viszeralen und kutanen Tumoren – Ungewöhnliche Manifestation eines Muir-Torre-Syndroms. Gastroenterologie up2date 3:188–194

    Article  Google Scholar 

  87. Offerhaus GJA, Billaud M, Gruber SB (2010) Peutz-Jeghers syndrome. In: Bosman FT, Carneiro F, Hruban RH, Theise ND (Hrsg) WHO Classification of tumours of the digestive system. IARC Press, Lyon, S 168–170

    Google Scholar 

  88. Offerhaus GJA, Howe JR (2010) Juvenile polyposis. In: Bosman FT, Carneiro F, Hruban RH, Theise ND (Hrsg) WHO Classification of tumours of the digestive system. IARC Press, Lyon, S 166–167

    Google Scholar 

  89. O'Shea AM, Cleary SP, Croitoru MA, Kim H, Berk T, Monga N, Riddell RH, Pollett A, Gallinger S (2008) Pathological features of colorectal carcinomas in MYH-associated polyposis. Histopathology 53:184–194

    Article  PubMed  PubMed Central  Google Scholar 

  90. Parsons MT, Buchanan DD, Thompson B, Young JP, Spurdle AB (2012) Correlation of tumour BRAF mutations and MLH1 methylation with germline mismatch repair (MMR) gene mutation status: a literature review assessing utility of tumour features for MMR variant classification. J Med Genet 49:151–157

    Article  CAS  PubMed  Google Scholar 

  91. Poulsen ML, Bisgaard ML (2008) MUTYH Associated Polyposis (MAP). Curr Genomics 9:420–435

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  92. Peltomaki P, Offerhaus GJA, Vasen HFA (2010) Lynch syndrome. In: Bosman FT, Carneiro F, Hruban RH, Theise ND (Hrsg) WHO Classification of tumours of the digestive system. IARC Press, Lyon, S 152–155

    Google Scholar 

  93. Peltomaki P, Vasen HFA, the ICG-HNPCC (1997) Mutations predisposing to hereditary nonpolyposis colorectal cancer: Database and results of a collaborative study. Gastroenterology 113:1146–1158

    Article  CAS  PubMed  Google Scholar 

  94. Pineda M, Mur P, Iniesta MD et al (2012) MLH1 methylation screening is effective in identifying epimutation carriers. Eur J Hum Genet 20:1256–1264

    Google Scholar 

  95. Pino MS, Mino-Kenudson M, Wildemore BM et al (2009) Deficient DNA mismatch repair is common in Lynch syndrome-associated colorectal adenomas. J Mol Diagn 11:238–247

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  96. Plaschke J, Engel C, Kruger S et al (2004) Lower incidence of colorectal cancer and later age of disease onset in 27 families with pathogenic MSH6 germline mutations compared with families with MLH1 or MSH2 mutations: the German Hereditary Nonpolyposis Colorectal Cancer Consortium. J Clin Oncol 22:4486–4494

    Article  CAS  PubMed  Google Scholar 

  97. Popat S, Hubner R, Houlston RS (2005) Systematic review of microsatellite instability and colorectal cancer prognosis. J Clin Oncol 23:609–618

    Article  CAS  PubMed  Google Scholar 

  98. Rahner N, Friedrichs N, Steinke V et al (2008) Coexisting somatic promoter hypermethylation and pathogenic MLH1 germline mutation in Lynch syndrome. J Pathol 214:10–16

    Article  CAS  PubMed  Google Scholar 

  99. Roessner A, Kuester D, Guenther T (2011) Kolorektale Polyposen – Eine Anleitung zur Diagnostik. Pathologe 32:303–313

    Article  CAS  PubMed  Google Scholar 

  100. Rüschoff J, Dietmaier W, Lüttges J et al (1997) Poorly differentiated colonic adenocarcinoma, medullary type: clinical, phenotypic, and molecular characteristics. Am J Pathol 150:1815–1825

    PubMed  PubMed Central  Google Scholar 

  101. Rüschoff J, Wallinger S, Dietmaier W, Bocker T, Brockhoff G, Hofstädter F, Fishel R (1998) Aspirin suppresses the mutator phenotype associated with hereditary nonpolyposis colorectal cancer by genetic selection. Proc Natl Acad Sci USA 95:11301–11306

    Article  PubMed  PubMed Central  Google Scholar 

  102. Sampson JR, Dolwani S, Jones S et al (2003) Autosomal recessive colorectal adenomatous polyposis due to inherited mutations of MYH. Lancet 362:39–41

    Article  CAS  PubMed  Google Scholar 

  103. Schmiegel W, Pox C, Reinacher-Schick A, Fölsch UR, Fleig W, Adler G et al (2008) S3-Leitlinie „Kolorektales Karzinom“ Ergebnisse evidenzbasierter Konsensuskonferenzen am 6./7. Februar 2004 und am 8./9. Juni 2007 (für die Themenkomplexe IV, VI und VII) S3-Guideline „Colorectal Cancer“ 2004/2008. Z Gastroenterol 46:1–73

    Article  CAS  Google Scholar 

  104. Schulmann K, Reiser M, Schmiegel W (2002) Colonic cancer and polyps. Best Pract Res Clin Gastroenterol 16:91–114

    Article  PubMed  Google Scholar 

  105. Schulmann K, Schmiegel W (2010) Hereditäres nichtpolypöseskolorektales Karzinom. Gastroenterologe 5:16–22

    Article  Google Scholar 

  106. Shia J, Ellis NA, Paty PB et al (2003) Value of histopathology in predicting microsatellite instability in hereditary nonpolyposis colorectal cancer and sporadic colorectal cancer. Am J Surg Pathol 27:1407–1417

    Article  PubMed  Google Scholar 

  107. Sieber OM, Lipton L, Crabtree M et al (2003) Multiple colorectal adenomas, classic adenomatous polyposis, and germ-line mutations in MYH. N Engl J Med 348:791–799

    Article  PubMed  Google Scholar 

  108. Sinicrope FA, Sargent DJ (2012) Molecular pathways: microsatellite instability in colorectal cancer: prognostic, predictive, and therapeutic implications. Clin Cancer Res 18:1506–1512

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  109. Snover DC, Ahnen DJ, Burt RW, Odze RD (2010) Serrated polyps of the colon and rectum and serrated poylposis. In: Bosman FT, Carneiro F, Hruban RH, Theise ND (Hrsg) WHO classification of tumours of the digestive system. IARC Press, Lyon, S 160–165

    Google Scholar 

  110. Tan MH, Mester JL, Ngeow J, Rybicki LA, Orloff MS, Eng C (2010) Lifetime cancer risks in individuals with germline PTEN mutations. Clin Cancer Res 18:400–407

    Article  CAS  Google Scholar 

  111. Theodoratou E, Campbell H, Tenesa A et al (2010) A large-scale meta-analysis to refine colorectal cancer risk estimates associated with MUTYH variants. Br J Cancer 103:1875–1884

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  112. Thibodeau SN, Bren G, Schaid (1993) Microsatellite instability in cancer of the proximal colon. Science 260:816–819

    Article  CAS  PubMed  Google Scholar 

  113. Tougeron D, Fauquembergue E, Rouquette A et al (2009) Tumor-infiltrating lymphocytes in colorectal cancers with microsatellite instability are correlated with the number and spectrum of frameshift mutations. Mod Pathol 22:1186–1195

    Article  CAS  PubMed  Google Scholar 

  114. Touriño R, Conde-Freire R, Cabezas-Agrícola JM et al (2004) Value of the congenital hypertrophy of the retinal pigment epithelium in the diagnosis of familial adenomatous polyposis. Int Ophthalmol 25:101–112

    Article  PubMed  Google Scholar 

  115. Trufant JW, Greene L, Cook DL, McKinnon W, Greenblatt M, Bosenberg MW (2012) Colonic ganglioneuromatous polyposis and metastatic adenocarcinoma in the setting of Cowden syndrome: a case report and literature review. Hum Pathol 43:601–604

    Article  PubMed  Google Scholar 

  116. Umar A, Boland CR, Terdiman JP, Syngal S, Fishel R, Rüschoff J, de la Chapelle A et al (2004) Revised Bethesda Guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability. J Natl Cancer Inst 96:261–268

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  117. van Puijenbroek M, Nielsen M, Tops CM, Halfwerk H, Vasen HF, Weiss MM, van Wezel T, Hes FJ, Morreau H (2008) Identification of patients with (atypical) MUTYH-associated polyposis by KRAS2 c.34G > T prescreening followed by MUTYH hotspot analysis in formalin-fixed paraffin-embedded tissue. Clin Cancer Res 14:139–142

    Article  PubMed  CAS  Google Scholar 

  118. Vasen HF, Mecklin JP, Meera Kahn P, Lynch HAT (1991) The International Collaborative Group on Hereditary Non-Polyposis Colorectal Cancer (ICG-HNPCC). Dis Colon Rectum 34:424–425

    Article  CAS  PubMed  Google Scholar 

  119. Venesio T, Balsamo A, Rondo-Spaudo M, Varesco L, Risio M, Ranzani GN (2003) APC haploinsufficiency, but not CTNNB1 or CDH1 gene mutations, accounts for a fraction of familial adenomatous polyposis patients without APC truncating mutations. Lab Invest 83:1859–1866

    Article  CAS  PubMed  Google Scholar 

  120. Warthin AS (1913) Heredity with reference to carcinoma. Arch Intern Med 12:546–555

    Article  Google Scholar 

  121. Weissman SM, Burt R, Church J, Erdman S, Hampel H, Holter S, Jasperson K, Kalady MF, Haidle JL, Lynch HT, Palaniappan S, Wise PE, Senter L (2011) Identification of individuals at risk for lynch syndrome using targeted evaluations and genetic testing: National Society of Genetic Counselors and the Collaborative Group of the Americas on Inherited Colorectal Cancer Joint Practice Guideline. J Genet Couns 21:484–493

    Article  PubMed  Google Scholar 

  122. Wijn MA, Keller JJ, Giardiello FM, Brand HS (2007) Oral and maxillofacial manifestations of familial adenomatous polyposis. Oral Dis 13:360–365

    Article  CAS  PubMed  Google Scholar 

  123. Win AK, Walters RJ, Buchanan DD et al (2012) Cancer risks for relatives of patients with serrated polyposis. Am J Gastroenterol 107:770–778

    Article  PubMed  PubMed Central  Google Scholar 

  124. Wirtzfeld DA, Petrelli NJ, Rodriguez-Bigas MA (2001) Hamartomatous polyposis syndromes: molecular genetics, neoplastic risk, and surveillance recommendations. Ann Surg Oncol 8:319–327

    Article  CAS  PubMed  Google Scholar 

  125. Yashiro M, Hirakawa K, Boland CR (2010) Mutations in TGFbeta-RII and BAX mediate tumor progression in the later stages of colorectal cancer with microsatellite instability. BMC Cancer 10:303

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  126. Young J, Jass JR (2006) The case for a genetic predisposition to serrated neoplasia in the colorectum: hypothesis and review of the literature. Cancer Epidemiol Biomarkers Prev 15:1778–1784

    Article  CAS  PubMed  Google Scholar 

  127. Zbuk KM, Eng C (2007) Hamartomatous polyposis syndromes. Nat Clin Pract Gastroenterol Hepatol 4:492–502

    Article  CAS  PubMed  Google Scholar 

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Correspondence to Josef Rüschoff Prof. Dr. med. .

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Rüschoff, J., Büttner, R. (2013). Hereditäre Tumoren. In: Stolte, M., Rüschoff, J., Klöppel, G. (eds) Pathologie. Pathologie. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-02322-4_34

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