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Cowden-Syndrom und juvenile Polypose

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Molekularmedizinische Grundlagen von hereditären Tumorerkrankungen

Part of the book series: Molekulare Medizin ((MOLMED))

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Zusammenfassung

Übersicht. Die Cowden-Erkrankung gehort zu einer Gruppe von Syndromen, deren gemeins ames Merkmal die autosomal-dominante Vererbung von hamartomatösen Schleimhautpolypen im Gastro intestinaltrakt und von weiteren tumorösen Veran derungen ist. In diese Gru ppe gehören ferner das Bannayan-Ruvalcaba-Riley-Syndrom (BRRS), die familiäre juvenile Polypose (FJP) und das Peutz-Jeghers-Syndrom (PJS). Aile 4 Syndrome weisen hamartornatos/hyperplastische Polypen im Gastrointestinaltrakt auf, unterscheiden sich aber in den Veränderungen, die die iibrigen Organe und Organ systeme bet reffen. Hamartome werden entsprechend ihres Aufbaus und ihrer Wachstumseigenschaften den benignen Tumoren bzw. den tu morartigen Veranderungen zugerechnet und gelten als nichtprakänzeröse Schleimh autveränderungen.

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Literatur

  • Albrecht S, Haber RM, Goodman JC, Duvic M (1992) Cowden syndrome and Lhermitte-Duclos disease. Cancer 70:869–876

    PubMed  CAS  Google Scholar 

  • Bannayan GA (1971) Lipomatosis, angiomatosis, and macroencephalia: a previously undescribed congenital syndrome. Arch Pathol 92:1–5

    PubMed  CAS  Google Scholar 

  • Baptist SJ, Sabatini MT (1985) Coexisting juvenile polyps and tubulovillous adenoma of colon with carcinoma in situ: report of a case. Hum Pathol 16:1061–1063

    PubMed  CAS  Google Scholar 

  • Beacham CH, Shields HM, Raffensperger EC, Enterline HT (1987) Juvenile and adenomatous gastrointestinal polyposis. Am J Dig Dis 23:1137–1143

    Google Scholar 

  • Bevan S, Woodford-Richens K, Rozen P et al. (1999) Screening SMAD1, SMAD2, SMAD3, and SMAD5 for germline mutations in juvenile polyposis syndrome. Gut 45:406–408

    PubMed  CAS  Google Scholar 

  • Bostrom J, Cobbers JM, Wolter M et al. (1998) Mutation of the PTEN (MMAC1) tumor suppressor gene in a subset of glioblastomas but not in meningiomas with loss of chromosome arm 10q. Cancer Res 1998 58:29–33

    PubMed  CAS  Google Scholar 

  • Brownstein MH, Mehregan AH, Bikowski JB (1977) Trichilemmomas in Cowden’s disease. JAMA 238:26

    PubMed  CAS  Google Scholar 

  • Brownstein MH, Wolf M, Bilowski JB (1978) Cowden’s disease. Cancer 41:2393–2398

    PubMed  CAS  Google Scholar 

  • Butler MP, Wang SI, Chaganti RS, Parsons R, Dalla-Favera R (1999) Analysis of PTEN mutations and deletions in Bcell non-Hodgkin’s lymphomas. Genes Chromosomes Cancer 24:322–327

    PubMed  CAS  Google Scholar 

  • Cairns P, Okami K, Halachmi S et al. (1997) Frequent inactivation of PTEN/MM AC 1 in primary prostate cancer. Cancer Res 57:4997–5000

    PubMed  CAS  Google Scholar 

  • Carethers JM, Furnari FB, Zigman AF et al. (1998) Absence of PTEN/MM AC 1 germ-line mutations in sporadic Bannayan-Riley-Ruvalcaba syndrome. Cancer Res 58:2724–2726

    PubMed  CAS  Google Scholar 

  • Carlson HE, Burns TW, Davenport SL et al. (1986) Cowden disease: gene marker studies and measurements of epidermal growth factor. Am J Hum Genet 38:908–917

    PubMed  CAS  Google Scholar 

  • Celebi JT, Tsou HC, Chen FF et al. (1999) Phenotypic findings of Cowden syndrome and Bannayan-Zonana syndrome in a family associated with a single germline mutation in PTEN. J Med Genet 36:360–364

    PubMed  CAS  Google Scholar 

  • Chen ST, Yu SY, Tsai M et al. (1999) Mutation analysis of the putative tumor suppression gene PTEN/MM AC 1 in sporadic breast cancer. Breast Cancer Res Treat 55:85–89

    PubMed  CAS  Google Scholar 

  • Cheney IW, Johnson DE, Vaillancourt MT et al. (1998) Suppression of tumorigenicity of glioblastoma cells by adenovirus-mediated MMAC1/PTEN gene transfer. Cancer Res 58:2331–2334

    PubMed  CAS  Google Scholar 

  • Cheney IW, Neuteboom ST, Vaillancourt MT, Ramachandra M, Bookstein R (1999) Adenovirus-mediated gene transfer of MMAC1/PTEN to glioblastoma cells inhibits S phase entry by the recruitment of p27Kipl into cyclin E/CDK2 complexes. Cancer Res 59:2318–2323

    PubMed  CAS  Google Scholar 

  • Chiariello E, Roz L, Albarosa R, Magnani I, Finocchiaro G (1998) PTEN/MM AC 1 mutations in primary glioblastomas and short-term cultures of malignant gliomas. Oncogene 16:541–545

    PubMed  CAS  Google Scholar 

  • Dahia PL, Marsh DJ, Zheng Z et al. (1997) Somatic deletions and mutations in the Cowden disease gene, PTEN, in sporadic thyroid tumors. Cancer Res 57:4710–4713

    PubMed  CAS  Google Scholar 

  • Dahia PL, FitzGerald MG, Zhang X et al. (1998) A highly conserved processed PTEN pseudogene is located on chromosome band 9p21. Oncogene 16:2403–2406

    PubMed  CAS  Google Scholar 

  • Dahia PL, Aguiar RC, Alberta J et al. (1999) PTEN is inversely correlated with the cell survival factor Akt/PKB and is inactivated via multiple mechanisms in haematological malignancies. Hum Mol Genet 8:185–193

    PubMed  CAS  Google Scholar 

  • Davies MA, Lu Y, Sano T et al. (1998) Adenoviral transgene expression of MMAC/PTEN in human glioma cells inhibits Akt activation and induces anoikis. Cancer Res 58:5285–5290

    PubMed  CAS  Google Scholar 

  • Davies MP, Gibbs FE, Halliwell N et al. (1999) Mutation in the PTEN/MM AC 1 gene in archival low grade and high grade gliomas. Br J Cancer 79:1542–1548

    PubMed  CAS  Google Scholar 

  • Di Cristofano A, Pesce B, Cordon-Cardo C, Pandolfi PP (1998) Pten is essential for embryonic development and tumour suppression. Nat Genet 19:348–355

    PubMed  Google Scholar 

  • Di Liberti JH (1998) Inherited macrocephaly-hamartoma syndromes. Am J Med Genet 79:284–290

    Google Scholar 

  • Dong JT, Sipe TW, Hyytinen ER et al. (1998) PTEN/MM AC 1 is infrequently mutated in pT2 and pT3 carcinomas of the prostate. Oncogene 17:1979–1982

    PubMed  CAS  Google Scholar 

  • Duerr EM, Rollbrocker B, Hayashi Y et al. (1998) PTEN mutations in gliomas and glioneuronal tumors. Oncogene 16:2259–2264

    PubMed  CAS  Google Scholar 

  • Eng C (1998) Genetics of Cowden syndrome: through the looking glass of oncology. Int J Oncol 12:701–710

    PubMed  CAS  Google Scholar 

  • Eng C, Peacocke M (1998) PTEN and inherited hamartomacancer syndromes. Nat Genet 19:223

    PubMed  CAS  Google Scholar 

  • Feilotter HE, Nagai MA, Boag AH, Eng C, Mulligan LM (1998) Analysis of PTEN and the 10q23 region in primary prostate carcinomas. Oncogene 16:1743–1748

    PubMed  CAS  Google Scholar 

  • Feilotter HE, Coulon V, McVeigh JL et al. (1999) Analysis of the 10q23 chromosomal region and the PTEN gene in human sporadic breast carcinoma. Br J Cancer 79:718–723

    PubMed  CAS  Google Scholar 

  • FitzGerald MG, Marsh DJ, Wahrer D et al. (1998) Germline mutations in PTEN are an infrequent cause of genetic predisposition to breast cancer. Oncogene 17:727–731

    PubMed  CAS  Google Scholar 

  • Forgacs E, Biesterveld EJ, Sekido Y et al. (1998) Mutation analysis of the PTEN/MMAC1 gene in lung cancer. Oncogene 17:1557–1565

    PubMed  CAS  Google Scholar 

  • Freihoff D, Kempe A, Beste B et al. (1999) Exclusion of a major role for the PTEN tumour-suppressor gene in breast carcinomas. Br J Cancer 79:754–758

    PubMed  CAS  Google Scholar 

  • Friedl W, Kruse R, Uhlhaas S et al. (1999) Frequent 4-bp deletion in exon 9 of the SMAD4/MADH4 gene in familial juvenile polyposis patients. Genes Chromosomes Cancer 25:403–406

    PubMed  CAS  Google Scholar 

  • Fujii GH, Morimoto AM, Berson AE, Bolen JB (1999) Transcriptional analysis of the PTEN/MMAC1 pseudogene, psiPTEN. Oncogene 18:1765–1769

    PubMed  CAS  Google Scholar 

  • Fults D, Pedone CA, Thompson GE et al. (1998) Microsatellite deletion mapping on chromosome lOq and mutation analysis of MMAC1, FAS, and MXI1 in human glioblastoma multiforme. Int J Oncol 12:905–910

    PubMed  CAS  Google Scholar 

  • Furnari FB, Huang HJ, Cavenee WK (1998) The phosphoinositol phosphatase activity of PTEN mediates a serum-sensitive G1 growth arrest in glioma cells. Cancer Res 58:5002–5008

    PubMed  CAS  Google Scholar 

  • Ghosh AK, Grigorieva I, Steele R, Hoover RG, Ray RB (1999) PTEN transcriptionally modulates c-myc gene expression in human breast carcinoma cells and is involved in cell growth regulation. Gene 235:85–91

    PubMed  CAS  Google Scholar 

  • Goodman ZD, Yardley JH, Milligan FD (1979) Pathogenesis of colonic polyps in multiple juvenile polyposis: report of a case associated with gastric polyps and carcinoma of the rectum. Cancer 43:1906–1913

    PubMed  CAS  Google Scholar 

  • Gorlin RJ, Cohen M M Jr, Condon LM, Burke BA (1992) Bannayan-Riley-Ruvalcaba syndrome. Am J Med Genet 44:307–314

    PubMed  CAS  Google Scholar 

  • Grosfeld JL, West KW (1986) Generalized juvenile polyposis coli. Clinical management based on long-term observations. Arch Surg 121:530–534

    PubMed  CAS  Google Scholar 

  • Guldberg P, Thor Straten P, Birck A, Ahrenkiel V, Kirkin AF, Zeuthen J (1997) Disruption of the MMAC1/PTEN gene by deletion or mutation is a frequent event in malignant melanoma. Cancer Res 57:3660–3663

    PubMed  CAS  Google Scholar 

  • Gujrati M, Thomas C, Zelby A, Jensen E, Lee JM (1998) Bannayan-Zonana syndrome: a rare autosomal dominant syn-drome with multiple lipomas and hemangiomas: a case report and review of literature. Surg Neurol 50:164–168

    PubMed  CAS  Google Scholar 

  • Haas-Kogan D, Shalev N, Wong M, Mills G, Yount G, Stokoe D (1998) Protein kinase B (PKB/Akt) activity is elevated in glioblastoma cells due to mutation of the tumor suppressor PTEN/MMAC. Curr Biol 8:1195–1198

    PubMed  CAS  Google Scholar 

  • Hahn SA, Schutte M, Hoque AT et al. (1996) DPC4, a candidate tumor suppressor gene at human chromosome 18q21.1. Science 271:350–353

    PubMed  CAS  Google Scholar 

  • Hahn SA, Hoque AT, Moskaluk CA et al. (1996) Homozygous deletion map at 18q21.1 in pancreatic cancer. Cancer Res 56:490–494

    PubMed  CAS  Google Scholar 

  • Halachmi N, Halachmi S, Evron E et al. (1998) Somatic mutations of the PTEN tumor suppressor gene in sporadic follicular thyroid tumors. Genes Chromosomes Cancer 23:239–243

    PubMed  CAS  Google Scholar 

  • Hayashi Y, Ohi R, Tornita Y, Chiba T, Matsumoto Y, Chiba T (1992) Bannayan-Zonana syndrome associated with lipomas, hemangiomas, and lymphangiomas. J Pediatr Surg 27:722–723

    PubMed  CAS  Google Scholar 

  • Houlston R, Bevan S, Williams A et al. (1998) Mutations in DPC4 (SMAD4) cause juvenile polyposis syndrome, but only account for a minority of cases. Hum Mol Genet 7:1907–1912

    PubMed  CAS  Google Scholar 

  • Howe JR, Mitros FA, Summers RW (1998) The risk of gastrointestinal carcinoma in familial juvenile polyposis. Ann Surg Oncol 5:751–756

    PubMed  CAS  Google Scholar 

  • Howe JR, Ringold JC, Summers RW, Mitros FA, Nishimura DY, Stone EM (1998) A gene for familial juvenile polyposis maps to chromosome 18q21.1. Am J Hum Genet 62:1129–1136

    PubMed  CAS  Google Scholar 

  • Howe JR, Ringold JC, Hughes JH, Summers RW (1999) Direct genetic testing for Smad4 mutations in patients at risk for juvenile polyposis. Surgery 126:162–170

    PubMed  CAS  Google Scholar 

  • Iida S, Tanaka Y, Fujii H et al. (1998) A heterozygous frameshift mutation of the PTEN/MMAC 1 gene in a patient with Lhermitte-Duclos disease — only the mutated allele was expressed in the cerebellar tumor. Int J Mol Med 1:925–929

    PubMed  CAS  Google Scholar 

  • Jarvinen H, Franssila KO (1984) Familial juvenile polyposis coli; increased risk of colorectal cancer. Gut 25:792–800

    PubMed  CAS  Google Scholar 

  • Kapetanakis AM, Vini D, Plitsis G (1996) Solitary juvenile polyps in children and colon cancer. Hepatogastroenterology 43:1530–1531

    PubMed  CAS  Google Scholar 

  • Kawamura N, Nagai H, Bando K et al. (1999) PTEN/MMAC 1 mutations in hepatocellular carcinomas: somatic inactivation of both alleles in tumors. Jpn J Cancer Res 90:41341–41348

    Google Scholar 

  • Kim SK, Su LK, Oh Y, Kemp BL, Hong WK, Mao L (1998) Alterations of PTEN/MMAC 1, a candidate tumor suppressor gene, and its homologue, PTH2, in small cell lung cancer cell lines. Oncogene 16:89–93

    PubMed  CAS  Google Scholar 

  • Koch R, Scholz M, Nelen MR, Schwechheimer K, Epplen JT, Härders AG (1999) Lhermitte-Duclos disease as a component of Cowden’s syndrome. Case report and review of the literature. J Neurosurg 90:776–779

    PubMed  CAS  Google Scholar 

  • Kohno T, Takahashi M, Manda R, Yokota J (1998) Inactivation of the PTEN/MMAC 1/TEP1 gene in human lung cancers. Genes Chromosomes Cancer 22:15.215–15.216

    Google Scholar 

  • Kong D, Suzuki A, Zou TT et al. (1997) PTEN1 is frequently mutated in primary endometrial carcinomas. Nat Genet 17:143–144

    PubMed  CAS  Google Scholar 

  • Knudson AG (1996) Hereditary cancer: two hits revisited. J Cancer Res Clin Oncol 122:135–140

    PubMed  CAS  Google Scholar 

  • Kurose K, Bando K, Fukino K, Sugisaki Y, Araki T, Emi M (1998) Somatic mutations of the PTEN/MMAC 1 gene in fifteen Japanese endometrial cancers: evidence for inactivation of both alleles. Jpn J Cancer Res 89:842–848

    PubMed  CAS  Google Scholar 

  • Lauge A, Lefebvre C, Laurent-Puig P et al. (1999) No evidence for germline PTEN mutations in families with breast and brain tumours. Int J Cancer 84:216–219

    PubMed  CAS  Google Scholar 

  • Levine RL, Cargile CB, Blazes MS, Rees B van, Kurman RJ, Ellenson LH (1998) PTEN mutations and microsatellite instability in complex atypical hyperplasia, a precursor lesion to uterine endometrioid carcinoma. Cancer Res 58:3254–3258

    PubMed  CAS  Google Scholar 

  • Lhermitte J, Duclos P (1920) Sur un ganglioneurome diffus du cortex du cervelet. Bull Assoc Franc Cancer 9:99–107

    Google Scholar 

  • Li DM, Sun H (1997) TEP1, encoded by a candidate tumor suppressor locus, is a novel protein tyrosine phosphatase regulated by transforming growth factor beta. Cancer Res 57:2124–2129

    PubMed  CAS  Google Scholar 

  • Li DM, Sun H (1998) PTEN/MMAC 1/TEP1 suppresses the tumorigenicity and induces Gx cell cycle arrest in human glioblastoma cells. Proc Natl Acad Sci USA 95:15.406–15.411

    Google Scholar 

  • Li J, Simpson L, Takahashi M et al. (1998) The PTEN/MMAC1 tumor suppressor induces cell death that is rescued by the AKT/protein kinase B oncogene. Cancer Res 58:5667–5672

    PubMed  CAS  Google Scholar 

  • Li J, Yen C, Liaw D et al. (1997) PTEN, a putative protein tyrosine phosphatase gene mutated in human brain, breast, and prostate cancer. Science 275:1943–1947

    PubMed  CAS  Google Scholar 

  • Liaw D, Marsh DJ, Li J et al. (1997) Germline mutations of the PTEN gene in Cowden disease, an inherited breast and thyroid cancer syndrome. Nat Genet 16:64–67

    PubMed  CAS  Google Scholar 

  • Lin H, Bondy ML, Langford LA et al. (1998) Allelic deletion analyses of MMAC/PTEN and DMBT1 loci in gliomas: relationship to prognostic significance. Clin Cancer Res 4:2447–2454

    PubMed  CAS  Google Scholar 

  • Liu J, Kagan J (1999) Method to distinguish between the MMAC1/PTEN gene and its pseudogene in RT-PCR analysis of point mutations. Biotechniques 26:19–22, 24

    PubMed  Google Scholar 

  • Liu W, James CD, Frederick L, Alderete BE, Jenkins RB (1997) PTEN/MMAC 1 mutations and EGFR amplification in glioblastomas. Cancer Res 57:5254–5257

    PubMed  CAS  Google Scholar 

  • Lloyd KM, Dennis M (1963) Cowden’s disease: a possible new symptom complex with multiple system involvement. Ann Intern Med 58:136–142

    PubMed  Google Scholar 

  • Longy M, Coulon V, Duboue B et al. (1998) Mutations of PTEN in patients with Bannayan-Riley-Ruvalcaba phenotype. J Med Genet 35:886–889

    PubMed  CAS  Google Scholar 

  • Lynch ED, Ostermeyer EA, Lee MK et al. (1997) Inherited mutations in PTEN that are associated with breast cancer, Cowden disease, and juvenile polyposis. Am J Hum Genet 1997 61:1254–1260

    PubMed  CAS  Google Scholar 

  • Maier D, Zhang Z, Taylor E et al. (1998) Somatic deletion mapping on chromosome 10 and sequence analysis of PTEN/MMAC 1 point to the 10q25-26 region as the primary target in low-grade and high-grade gliomas. Oncogene 16:3331–3335

    PubMed  CAS  Google Scholar 

  • Marsh DJ, Dahia PLM, Zheng Z et al. (1997) Germline mutations in PTEN are present in Bannayan-Zonana syndrome. Nat Genet 16:333–334

    PubMed  CAS  Google Scholar 

  • Marsh DJ, Roth S, Lunetta KL et al. (1997) Exclusion of PTEN and 10q22-24 as the susceptibility locus for juvenile polyposis syndrome. Cancer Res 57:5017–5021

    PubMed  CAS  Google Scholar 

  • Marsh DJ, Coulon V, Lunetta KL et al. (1999) PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome. Hum Mol Genet 8:1461–1472

    PubMed  CAS  Google Scholar 

  • Maxwell GL, Risinger JI, Gumbs C et al. (1998) Mutation of the PTEN tumor suppressor gene in endometrial hyperplasias. Cancer Res 58:2500–2503

    PubMed  CAS  Google Scholar 

  • Mazier WP, MacKeigan JM, Billingham RP, Dignan RD (1982) Juvenile polyps of the colon and rectum. Surg Gynecol Obstet 54:829–832

    Google Scholar 

  • Miles JH, Zonana J, Mcfarlane J, Aleck KA, Bawle E (1984) Macrocephaly with hamartomas: Bannayan-Zonana syndrome. Am J Med Genet 19:225–234

    PubMed  CAS  Google Scholar 

  • Mollenhauer J, Wiemann S, Scheurlen W et al. (1997) DMBT1, a new member of the SRCR superfamily, on chromosome 10q25.3-26.1 is deleted in malignant brain tumours. Nat Genet 17:32–39

    PubMed  CAS  Google Scholar 

  • Myers MP, Pass I, Batty IH et al. (1998) The lipid phosphatase activity of PTEN is critical for its tumor supressor function. Proc Natl Acad Sci USA 95:13.513–13.518

    Google Scholar 

  • Nakahara Y, Nagai H, Kinoshita T et al. (1998) Mutational analysis of the PTEN/MMAC 1 gene in non-Hodgkin’s lymphoma. Leukemia 12:1277–80

    PubMed  CAS  Google Scholar 

  • Nelen MR, Padberg GW, Peeters EAJ et al. (1996) Localization of the gene for Cowden disease to chromosome 10q22-23. Nat Genet 13:114–116

    PubMed  CAS  Google Scholar 

  • Nelen MR, Staveren WCG van, Peeters EAJ et al. (1997) Germline mutations in the PTEN/MMAC 1 gene in patients with Cowden disease. Hum Mol Genet 6:1383–1387

    PubMed  CAS  Google Scholar 

  • Nelen MR, Kremer H, Konings IB et al. (1999) Novel PTEN mutations in patients with Cowden disease: absence of clear genotype-phenotype correlations. Eur J Hum Genet 7:267–273

    PubMed  CAS  Google Scholar 

  • Nugent KP, Talbot IC, Hodgson SV, Phillips RK (1993) Solitary juvenile polyps: not a marker for subsequent malignancy. Gastroenterology 105:698–700

    PubMed  CAS  Google Scholar 

  • Olschwang S, Serova-Sinilnikova OM, Lenoir GM, Thomas G (1998) PTEN germ-line mutations in juvenile polyposis coli. Nat Genet 18:12–14

    PubMed  CAS  Google Scholar 

  • Padberg GW, Schot JDL, Vielvoye GJ, Bots GTAM, Beer FC de (1991) Lhermitte-Duclos disease and Cowden disease: a single phakomatosis. Ann Neurol 29:517–523

    PubMed  CAS  Google Scholar 

  • Pesche S, Latil A, Muzeau F et al. (1998) PTEN/MMAC 1/TEP1 involvement in primary prostate cancers. Oncogene 16:2879–2883

    PubMed  CAS  Google Scholar 

  • Phillips DM (1978) Juvenile polyp in a 10-month-old infant. Postgrad Med 64:188, 190

    PubMed  CAS  Google Scholar 

  • Poddar U, Thapa BR, Vaiphei K, Singh K (1998) Colonic polyps: experience of 236 Indian children. Am J Gastroenterol 93:619–622

    PubMed  CAS  Google Scholar 

  • Ramaswamy S, Nakamura N, Vazquez F et al. (1999) Regulation of Gl progression by the PTEN tumor suppressor protein is linked to inhibition of the phosphatidylinositol 3-kinase/Akt pathway. Proc Natl Acad Sci USA 96:2110–2115

    PubMed  CAS  Google Scholar 

  • Rasheed BK, Stenzel TT, McLendon RE et al. (1997) PTEN gene mutations are seen in high-grade but not in lowgrade gliomas. Cancer Res 57:4187–4190

    PubMed  CAS  Google Scholar 

  • Reed K, Vose PC (1981) Diffuse juvenile polyposis of the colon: a premalignant condition? Dis Colon Rectum 24:205–210

    PubMed  CAS  Google Scholar 

  • Rhei E, Kang L, Bogomolniy F, Federici MG, Borgen PI, Boyd J (1997) Mutation analysis of the putative tumor suppressor gene PTEN/MMAC 1 in primary breast carcinomas. Cancer Res 57:3657–3659

    PubMed  CAS  Google Scholar 

  • Riggins GJ, Thiagalingam S, Rozenblum E et al. (1996) Madrelated genes in the human. Nat Genet 13:347–349

    PubMed  CAS  Google Scholar 

  • Riley HD, Smith WR (1960) Macrocephaly, pseudopapilledema and multiple hemangiomata: a previously undescribed heredofamilial syndrome. Pediatrics 26:293–300

    Google Scholar 

  • Risinger JI, Hayes AK, Berchuck A, Barrett JC (1997) PTEN/MMAC1 mutations in endometrial cancers. Cancer Res 57:4736–4738

    PubMed  CAS  Google Scholar 

  • Robertson GP, Herbst RA, Nagane M, Huang HJ, Cavenee WK (1999) The chromosome 10 monosomy common in human melanomas results from loss of two separate tumor suppressor loci. Cancer Res 59:3596–3601

    PubMed  CAS  Google Scholar 

  • Roth S, Sistonen P, Salovaara R et al. (1999) SMAD genes in juvenile polyposis. Genes Chromosomes Cancer 26:54–61

    PubMed  CAS  Google Scholar 

  • Rozen P, Baratz M (1982) Familial juvenile colonic polyposis with associated colon cancer. Cancer 49:1500–1503

    PubMed  CAS  Google Scholar 

  • Sakurada A, Suzuki A, Sato M et al. (1997) Infrequent genetic alterations of the PTEN/MMAC 1 gene in Japanese patients with primary cancers of the breast, lung, pancreas, kidney, and ovary. Jpn J Cancer Res 88:1025–1028

    PubMed  CAS  Google Scholar 

  • Sano T, Lin H, Chen X et al. (1999) Differential expression of MMAC/PTEN in glioblastoma multiforme: relationship to localization and prognosis. Cancer Res 59:1820–1824

    PubMed  CAS  Google Scholar 

  • Sandler RS, Lipper S (1981) Multiple adenomas in juvenile polyposis. Am J Gastroenterol 75:361–366

    PubMed  CAS  Google Scholar 

  • Schräger CA, Schneider D, Gruener AC, Tsou HC, Peacocke M (1998) Clinical and pathological features of breast disease in Cowden’s syndrome: an underrecognized syndrome with an increased risk of breast cancer. Hum Pathol 29:47–53

    PubMed  Google Scholar 

  • Schutte M, Hruban RH, Hedrick L et al. (1996) DPC4 gene in various tumor types. Cancer Res 56:2527–2530

    PubMed  CAS  Google Scholar 

  • Scott-Conner CE, Hausmann M, Hall TJ, Skelton DS, Anglin BL, Subramony C (1995) Familial juvenile polyposis: patterns of recurrence and implications for surgical management. J Am Coll Surg 181:407–413

    PubMed  CAS  Google Scholar 

  • Simpkins SB, Peiffer-Schneider S, Mutch DG, Gersell D, Goodfellow PJ (1998) PTEN mutations in endometrial cancers with lOq LOH: additional evidence for the involvement of multiple tumor suppressors. Gynecol Oncol 71:391–395

    PubMed  CAS  Google Scholar 

  • Somerville RP, Shoshan Y, Eng C, Barnett G, Miller D, Cowell JK (1998) Molecular analysis of two putative tumour suppressor genes, PTEN and DMBT, which have been implicated in glioblastoma multiforme disease progression. Oncogene 17:1755–1757

    PubMed  CAS  Google Scholar 

  • Stambolic V, Suzuki A, Pompa JL de la et al. (1998) Negative regulation of PKB/Akt-dependent cell survival by the tumor suppressor PTEN. Cell 95:29–39

    PubMed  CAS  Google Scholar 

  • Starink TM, Veen JPW van der, Arwert F et al. (1986) The Cowden syndrome: a clinical and genetic study in 21 patients. Clin Genet 29:222–233

    PubMed  CAS  Google Scholar 

  • Steck PA, Pershouse MA, Jasser SA et al. (1997) Identification of a candidate tumour suppressor gene, MMAC1, at chromosome 10q23.3 that is mutated in multiple advanced cancers. Nat Genet 15:356–362

    PubMed  CAS  Google Scholar 

  • Steck PA, Lin H, Langford LA et al. (1999) Functional and molecular analyses of lOq deletions in human gliomas. Genes Chromosomes Cancer 24:135–143

    PubMed  CAS  Google Scholar 

  • Sulser H, Deyhle P, Clavadetscher P, Ammann R (1976) Juvenile colonic mucosal polyps in adults. Schweiz Med Wochenschr 106:107–111

    PubMed  CAS  Google Scholar 

  • Sun H, Lesche R, Li DM et al. (1999) PTEN modulates cell cycle progression and cell survival by regulating phosphatidylinositol 3,4,5,-trisphosphate and Akt/protein ki-8.4 Cowden-Syndrom und juvenile Polypose 365 nase B signaling pathway. Proc Natl Acad Sci USA 96:6199–6204

    PubMed  CAS  Google Scholar 

  • Sutphen R, Diamond TM, Minton SE, Peacocke M, Tsou HC, Root AW (1999) Severe Lhermitte-Duclos disease with unique germline mutation of PTEN. Am J Med Genet 82:290–293

    PubMed  CAS  Google Scholar 

  • Suzuki A, Pompa JL de la, Stambolic V et al. (1998) High cancer susceptibility and embryonic lethality associated with mutation of the PTEN tumor suppressor gene in mice. Curr Biol 8:1169–1178

    PubMed  CAS  Google Scholar 

  • Tamura M, Gu J, Matsumoto K, Aota S, Parsons R, Yamada KM (1998) Inhibition of cell migration, spreading, and focal adhesions by tumor suppressor PTEN. Science 280:1614–1617

    PubMed  CAS  Google Scholar 

  • Tamura M, Gu J, Takino T, Yamada KM (1999) Tumor suppressor PTEN inhibition of cell invasion, migration, and growth: differential involvement of focal adhesion kinase and pl30Cas. Cancer Res 59:442–449

    PubMed  CAS  Google Scholar 

  • Tashiro H, Blazes MS, Wu R et al. (1997) Mutations in PTEN are frequent in endometrial carcinoma but rare in other common gynecological malignancies. Cancer Res 57:3935–3940

    PubMed  CAS  Google Scholar 

  • Thomas HJ, Whitelaw SC, Cottrell SE et al. (1996) Genetic mapping of hereditary mixed polyposis syndrome to chromosome 6q. Am J Hum Genet 1996 58:770–776

    PubMed  CAS  Google Scholar 

  • Tian XX, Pang JC, To SS, Ng HK (1999) Restoration of wildtype PTEN expression leads to apoptosis, induces differentiation, and reduces telomerase activity in human glioma cells. J Neuropathol Exp Neurol 58:472–479

    PubMed  CAS  Google Scholar 

  • Tohma Y, Gratas C, Biernat W et al. (1998) PTEN (MMAC1) mutations are frequent in primary glioblastomas (de novo) but not in secondary glioblastomas. J Neuropathol Exp Neurol 57:684–689

    PubMed  CAS  Google Scholar 

  • Tsao H, Zhang X, Benoit E, Haluska FG (1998) Identification of PTEN/MMAC 1 alterations in uncultured melanomas and melanoma cell lines. Oncogene 16:3397–3402

    PubMed  CAS  Google Scholar 

  • Ueda K, Nishijima M, Inui H et al. (1998) Infrequent mutations in the PTEN/MMAC 1 gene among primary breast cancers. Jpn J Cancer Res 89:17–21

    PubMed  CAS  Google Scholar 

  • Vaiphei K, Thapa BR (1997) Juvenile polyposis (coli) — high incidence of dysplastic epithelium. J Pediatr Surg 32:1287–1290

    PubMed  CAS  Google Scholar 

  • Velcek FT, Coopersmith IS, Chen CK, Kassner EG, Klotz DH Jr, Kottmeier PK (1976) Familial juvenile adenomatous polyposis. J Pediatr Surg 11:781–787

    PubMed  CAS  Google Scholar 

  • Vinchon M, Blond S, Lejeune JP et al. (1994) Association of Lhermitte-Duclos and Cowden disease: report of a new case and review of the literature. J Neurol Neurosurg Psychiatry 57:699–704

    PubMed  CAS  Google Scholar 

  • Vlietstra RJ, Alewijk DC van, Hermans KG, Steenbrugge GJ van, Trapman J (1998) Frequent inactivation of PTEN in prostate cancer cell lines and xenografts. Cancer Res 58:2720–2723

    PubMed  CAS  Google Scholar 

  • Wang SI, Puc J, Li J et al. (1997) Somatic mutations of PTEN in glioblastoma multiforme. Cancer Res 57:4183–4186

    PubMed  CAS  Google Scholar 

  • Wang SI, Parsons R, Ittmann M (1998) Homozygous deletion of the PTEN tumor suppressor gene in a subset of prostate adenocarcinomas. Clin Cancer Res 4:811–815

    PubMed  CAS  Google Scholar 

  • Whang YE, Wu X, Suzuki H et al. (1998) Inactivation of the tumor suppressor PTEN/MMAC 1 in advanced human prostate cancer through loss of expression. Proc Natl Acad Sci USA 95:5246–5250

    PubMed  CAS  Google Scholar 

  • Weary PE, Gorlin RJ, Gentry WC Jr, Comer JE, Greer KE (1972) Multiple hamartoma syndrome (Cowden’s disease). Arch Dermatol 106:682–690

    PubMed  CAS  Google Scholar 

  • Whang YE, Wu X, Sawyers CL (1998) Identification of a pseudogene that can masquerade as a mutant allele of the PTEN/MMAC 1 tumor suppressor gene. J Natl Cancer Inst 90:859–861

    PubMed  CAS  Google Scholar 

  • Whitelaw SC, Murday VA, Tomlinson IP et al. (1997) Clinical and molecular features of the hereditary mixed polyposis syndrome. Gastroenterology 112:327–334

    PubMed  CAS  Google Scholar 

  • Wu X, Senechal K, Neshat MS, Whang YE, Sawyers CL (1998) The PTEN/MMAC1 tumor suppressor phosphatase functions as a negative regulator of the phosphoinositide 3-kinase/Akt pathway. Proc Natl Acad Sci USA 95:15.587–15.591

    Google Scholar 

  • Yamagiwa H, Ishihara A, Matsuzaki O, Yoshimura H (1979) Clinicopathological study of juvenile polyp. Gastroenterol Jpn 14:425–431

    PubMed  CAS  Google Scholar 

  • Yao YJ, Ping XL, Zhang H et al. (1999) PTEN/MMAC 1 mutations in hepatocellular carcinomas. Oncogene 18:3181–3185

    PubMed  CAS  Google Scholar 

  • Yokomizo A, Tindali DJ, Drabkin H et al. (1998) PTEN/MMAC1 mutations identified in small cell, but not in non-small cell lung cancers. Oncogene 17:475–479

    PubMed  CAS  Google Scholar 

  • Yoshinaga K, Sasano H, Furukawa T et al. (1998) The PTEN, BAX, and IGFIIR genes are mutated in endometrial atypical hyperplasia. Jpn J Cancer Res 89:985–990

    PubMed  CAS  Google Scholar 

  • Zhou XP, Li YJ, Hoang-Xuan K et al. (1999) Mutational analysis of the PTEN gene in gliomas: molecular and pathological correlations. Int J Cancer 84:150–154

    PubMed  CAS  Google Scholar 

  • Zori RT, Marsh DJ, Graham GE, Marliss EB, Eng C (1998) Germline PTEN mutation in a family with Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome. Am J Med Genet 80:399–402

    PubMed  CAS  Google Scholar 

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Authors and Affiliations

  1. Fakultät für Klinische Medizin Mannheim Pathologisches Institut, Universität Heidelberg, Theodor-Kutzer-Ufer, 68135, Mannheim

    Dr. Matthias Hahn & Dr. Walter Back

  2. Abteilung Chirurgische Forschung, Technische Universität Dresden Universitätsklinikum Carl Gustav Carus, Fetscherstraße 74, 01307, Dresden

    Prof. Dr. Hans K. Schackert

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  1. Dr. Matthias Hahn
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  2. Dr. Walter Back
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  3. Prof. Dr. Hans K. Schackert
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  1. Max-Delbrück-Centrum für Molekulare Medizin (MDC), Robert-Rössle-Str. 10, 13122, Berlin-Buch

    Detlev Ganten  & Klaus Ruckpaul  & 

  2. Medizinische Universitätsklinik, Knappschaftskrankenhaus, In der Schornau 23-25, 44892, Bochum-Langendreer

    Stephan A. Hahn  & Wolff Schmiegel  & 

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Hahn, M., Back, W., Schackert, H.K. (2001). Cowden-Syndrom und juvenile Polypose. In: Ganten, D., Ruckpaul, K., Hahn, S.A., Schmiegel, W. (eds) Molekularmedizinische Grundlagen von hereditären Tumorerkrankungen. Molekulare Medizin. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-56889-3_12

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  • DOI: https://doi.org/10.1007/978-3-642-56889-3_12

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