Gastroenterologie up2date, Table of Contents Gastroenterologie up2date 2015; 11(02): 78-82DOI: 10.1055/s-0034-1391882 Klinisch-pathologische Konferenz © Georg Thieme Verlag KG Stuttgart · New YorkGemischte, partiell ganglioneuromatöse Polypose beim Cowden-Syndrom Hendrik Bläker 1 , Ulrich-Frank Pape 2 Recommend Article Abstract Buy Article All articles of this category Full Text References Literatur 1 Lloyd KM, Dennis M. Cowden’s disease: a possible new symptom complex with multiple system involvement. Ann Intern Med 1963; 58: 136-142 2 Nelen MR, Kremer H, Konings IBM et al. Novel PTEN mutations in patients with Cowden disease: absence of clear genotype-phenotype correlations. Eur J Hum Genet 1999; 7: 267-273 3 Nelen MR, van Staveren CG, Peeters EAJ et al. Germline mutations in the PTEN/MMAC1 gene in patients with Cowden disease. Hum Mol Genet 1997; 6: 1383-1387 4 Liaw D, Marsh DJ, Li J et al. Germline mutations of the PTEN gene in Cowden disease, an inherited breast and thyroid cancer syndrome. Nat Genet 1997; 16: 64-67 5 Eng C. Cowden syndrome. J Genet Counsel 1997; 6: 181-191 6 Eng CH, Eng C, Burt RW. Cowden Syndrom. In: Bosman F, Carneiro F, Hruban RH, Theise ND, eds. WHO Classification of Tumors of the Digestive System. Lyon: IARC; 2010: 171-173 7 Stanich P, Pilarski R, Rock J et al. Colonic manifestations of PTEN hamartoma tumor syndrome: case series and systematic review. World J Gastroenterol 2014; 20: 1833-1838 8 Levi Z, Baris HN, Kedar I et al. Upper and lower gastrointestinal findings in PTEN mutation-positive Cowden syndrome patients participating in an active surveillance program. Clin Transl Gastroenterol 2011; 2: e5 9 Pilarski R, Burt R, Kohlman W et al. Cowden syndrome and the PTEN hamartoma tumor syndrome: systematic review and revised diagnostic criteria. J Natl Cancer Inst 2013; 105: 1607-1616 10 Stanich P, Owens V, Sweetser S et al. Colonic polyposis and neoplasia in Cowden syndrome. Mayo Clin Proc 2011; 86: 489-492 11 Heald B, Mester J, Rybicki L et al. Frequent gastrointestinal polyps and colorectal adenocarcinomas in a prospective series of PTEN mutation carriers. Gastroenterology 2010; 139: 1927-1933 12 Tan MH, Mester JL, Ngeow J et al. Lifetime cancer risks in individuals with germline PTEN mutations. Clin Cancer Res 2012; 18: 400-407 13 Trufant JW, Greene L, Cook DL et al. Colonic ganglioneuromatous polyposis and metastatic adenocarcinoma in the setting of Cowden syndrome: a case report and literature review. Hum Pathol 2012; 43: 601-604 14 Bosserhoff AK, Grussendorf-Conen EI, Rübben A et al. Multiple colon carcinomas in a patient with Cowden syndrome. Int J Mol Med 2006; 18: 643-647
