{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,28]],"date-time":"2026-07-28T15:22:48Z","timestamp":1785252168263,"version":"3.55.0"},"reference-count":36,"publisher":"VM Media SP. zo.o VM Group SK","issue":"5","license":[{"start":{"date-parts":[[2015,9,1]],"date-time":"2015-09-01T00:00:00Z","timestamp":1441065600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Neurologia i Neurochirurgia Polska"],"published-print":{"date-parts":[[2015,9]]},"DOI":"10.1016\/j.pjnns.2015.07.005","type":"journal-article","created":{"date-parts":[[2015,7,30]],"date-time":"2015-07-30T16:29:03Z","timestamp":1438273743000},"page":"339-343","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":4,"title":["Cowden syndrome and the associated Lhermitte-Duclos disease \u2013 Case presentation"],"prefix":"10.5603","volume":"49","author":[{"given":"I.","family":"St\u0119pniak","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"T.","family":"Trojanowski","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Drelich-Zbroja","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P.","family":"Willems","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.","family":"Zaremba","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"3595","reference":[{"key":"10.1016\/j.pjnns.2015.07.005_bib0185","doi-asserted-by":"crossref","first-page":"13","DOI":"10.1007\/s10897-008-9187-7","article-title":"Cowden syndrome a critical review of the clinical literature","volume":"18","author":"Pilarski","year":"2009","journal-title":"J Genet Counsel"},{"key":"10.1016\/j.pjnns.2015.07.005_bib0190","doi-asserted-by":"crossref","first-page":"1289","DOI":"10.1038\/ejhg.2008.162","article-title":"PTEN hamartoma tumor syndromes","volume":"16","author":"Blumenthal","year":"2008","journal-title":"Eur J Hum Genet"},{"key":"10.1016\/j.pjnns.2015.07.005_bib0195","doi-asserted-by":"crossref","first-page":"1927","DOI":"10.1053\/j.gastro.2010.06.061","article-title":"Frequent gastrointestinal polyps and colorectal adenocarcinomas in a prospective series of PTEN mutation carriers","volume":"139","author":"Heald","year":"2010","journal-title":"Gastroneterology"},{"issue":"1","key":"10.1016\/j.pjnns.2015.07.005_bib0200","doi-asserted-by":"crossref","first-page":"75","DOI":"10.1016\/j.dld.2012.09.017","article-title":"Duodenal carcinoma in a 37-year-old man with Cowden\/Bannayan syndrome","volume":"45","author":"de Leon","year":"2013","journal-title":"Dig Liver Dis"},{"key":"10.1016\/j.pjnns.2015.07.005_bib0205","doi-asserted-by":"crossref","first-page":"579","DOI":"10.1136\/jmg.2007.049981","article-title":"Cowden syndrome and Bannayan Riley Ruvalcaba syndrome represent one condition with variable expression and age-related penetrance: results of a clinical study of PTEN mutation carriers","volume":"44","author":"Lachlan","year":"2007","journal-title":"J Med Genet"},{"key":"10.1016\/j.pjnns.2015.07.005_bib0210","doi-asserted-by":"crossref","first-page":"318","DOI":"10.1136\/jmg.2004.024646","article-title":"Subset of individuals with autism spectrum disorders and extreme macrocephaly associated with germline PTEN tumour suppressor gene mutations","volume":"42","author":"Butler","year":"2005","journal-title":"J Med Genet"},{"issue":"26","key":"10.1016\/j.pjnns.2015.07.005_bib0215","doi-asserted-by":"crossref","first-page":"15406","DOI":"10.1073\/pnas.95.26.15406","article-title":"PTEN\/MMAC1\/TEP1 suppresses the tumorigenicity and induces G1 cell cycle arrest in human glioblastoma cells","volume":"95","author":"Li","year":"1998","journal-title":"Proc National Acad Sci"},{"issue":"7","key":"10.1016\/j.pjnns.2015.07.005_bib0220","doi-asserted-by":"crossref","first-page":"466","DOI":"10.1111\/ijd.1984.23.7.466","article-title":"Cowden's disease with associated malignant melanoma","volume":"23","author":"Greene","year":"1984","journal-title":"Int J Dermatol"},{"issue":"11","key":"10.1016\/j.pjnns.2015.07.005_bib0225","doi-asserted-by":"crossref","first-page":"924","DOI":"10.1093\/jnci\/92.11.924","article-title":"Altered PTEN expression as a diagnostic marker for the earliest endometrial precancers","volume":"92","author":"Mutter","year":"2000","journal-title":"J Natl Cancer Inst"},{"issue":"3","key":"10.1016\/j.pjnns.2015.07.005_bib0230","first-page":"469","article-title":"MMAC\/PTEN tumor suppressor gene regulates vascular Cowden Syndrome: a critical review of the clinical literature 25 endothelial growth factor-mediated angiogenesis in prostate cancer","volume":"21","author":"Koul","year":"2002","journal-title":"Int J Oncol"},{"key":"10.1016\/j.pjnns.2015.07.005_bib0235","doi-asserted-by":"crossref","first-page":"109","DOI":"10.1002\/1098-1004(200008)16:2<109::AID-HUMU3>3.0.CO;2-0","article-title":"Mutations of the human PTEN gene","volume":"16","author":"Bonneau","year":"2000","journal-title":"Hum Mutat"},{"key":"10.1016\/j.pjnns.2015.07.005_bib0240","first-page":"1801","article-title":"Somatic mutation and germline variants of MINPP1, a phosphatase gene located in proximity to PTEN on 10q23.3, in follicular thyroid carcinomas","volume":"86","author":"Gimm","year":"2001","journal-title":"J Clin Endocrinol Metab"},{"key":"10.1016\/j.pjnns.2015.07.005_bib0245","doi-asserted-by":"crossref","first-page":"136","DOI":"10.7326\/0003-4819-58-1-136","article-title":"Cowden's disease. A possible new symptom complex with multiple system involvement","volume":"58","author":"Lloyd","year":"1963","journal-title":"Ann Intern Med"},{"key":"10.1016\/j.pjnns.2015.07.005_bib0250","doi-asserted-by":"crossref","first-page":"114","DOI":"10.1038\/ng0596-114","article-title":"Localization of the gene for Cowden disease to chromosome 10q22-23","volume":"13","author":"Nelen","year":"1996","journal-title":"Nat Genet"},{"key":"10.1016\/j.pjnns.2015.07.005_bib0255","doi-asserted-by":"crossref","first-page":"267","DOI":"10.1038\/sj.ejhg.5200289","article-title":"Novel PTEN mutations in patients with Cowden disease: absence of clear genotype\u2013phenotype correlations","volume":"7","author":"Nelen","year":"1999","journal-title":"Eur J Hum Genet"},{"key":"10.1016\/j.pjnns.2015.07.005_bib0260","doi-asserted-by":"crossref","first-page":"645","DOI":"10.1111\/j.1742-1241.2006.00896.x","article-title":"Cowden disease: a review","volume":"61","author":"Uppal","year":"2007","journal-title":"Int J Clin Pract"},{"key":"10.1016\/j.pjnns.2015.07.005_bib0265","doi-asserted-by":"crossref","first-page":"27","DOI":"10.1016\/S0733-8635(18)30103-7","article-title":"Cowden syndrome (multiple hamartomas syndrome)","volume":"13","author":"Mallory","year":"1995","journal-title":"Dermatol Clin"},{"key":"10.1016\/j.pjnns.2015.07.005_bib0270","doi-asserted-by":"crossref","first-page":"183","DOI":"10.1002\/humu.10257","article-title":"PTEN: one gene, many syndromes","volume":"22","author":"Eng","year":"2003","journal-title":"Hum Mutat"},{"key":"10.1016\/j.pjnns.2015.07.005_bib0275","doi-asserted-by":"crossref","first-page":"625","DOI":"10.1016\/j.tripleo.2005.06.026","article-title":"Cowden syndrome: report of a case with immunohistochemical analysis and review of the literature","volume":"101","author":"Scheper","year":"2006","journal-title":"Oral Surg Oral Med Oral Pathol Oral Radiol Endod"},{"key":"10.1016\/j.pjnns.2015.07.005_bib0280","doi-asserted-by":"crossref","first-page":"633","DOI":"10.1016\/S1542-3565(05)00370-8","article-title":"Inherited polyposis syndromes: molecular mechanisms, clinicopathology, and genetic testing","volume":"3","author":"Doxey","year":"2005","journal-title":"Clin Gastroeneterol Hepatol"},{"key":"10.1016\/j.pjnns.2015.07.005_bib0285","doi-asserted-by":"crossref","first-page":"1429","DOI":"10.1111\/j.1572-0241.2003.07496.x","article-title":"GI polyposis and glycogenic acanthosis of the esophagus associated with PTEN mutation positive Cowden syndrome in the absence of cutaneous manifestations","volume":"98","author":"McGarrity","year":"2003","journal-title":"Am J Gastroenterol"},{"key":"10.1016\/j.pjnns.2015.07.005_bib0290","doi-asserted-by":"crossref","first-page":"21","DOI":"10.3233\/BD-2007-27103","article-title":"Susceptibility to breast cancer: hereditary syndromes and low penetrance genes","volume":"27","author":"Nusbaum","year":"2006","journal-title":"Breast Dis"},{"key":"10.1016\/j.pjnns.2015.07.005_bib0295","doi-asserted-by":"crossref","first-page":"577","DOI":"10.1016\/j.ctrv.2010.04.002","article-title":"Cowden syndrome","volume":"36","author":"Farooq","year":"2010","journal-title":"Cancer Treat Rev"},{"key":"10.1016\/j.pjnns.2015.07.005_bib0300","doi-asserted-by":"crossref","first-page":"159","DOI":"10.1136\/jmg.38.3.159","article-title":"Male breast cancer in Cowden syndrome patients with germline PTEN mutations","volume":"38","author":"Fackenthal","year":"2001","journal-title":"J Med Genet"},{"key":"10.1016\/j.pjnns.2015.07.005_bib0305","doi-asserted-by":"crossref","first-page":"64","DOI":"10.1038\/ng0597-64","article-title":"Germline mutations of the PTEN gene in Cowden disease, an inherited breast and thyroid cancer syndrome","volume":"16","author":"Liaw","year":"1997","journal-title":"Nat Genet"},{"key":"10.1016\/j.pjnns.2015.07.005_bib0310","doi-asserted-by":"crossref","first-page":"601","DOI":"10.1016\/j.humpath.2011.06.022","article-title":"Colonic ganglioneuromatous polyposis and metastatic adenocarcinoma in the setting of Cowden syndrome: a case report and literature review","volume":"43","author":"Trufant","year":"2012","journal-title":"Hum Pathol"},{"key":"10.1016\/j.pjnns.2015.07.005_bib0315","doi-asserted-by":"crossref","first-page":"e50","DOI":"10.1136\/jmg.2004.030569","article-title":"Arteriovenous malformations in Cowden syndrome","volume":"42","author":"Tumbull","year":"2005","journal-title":"J Med Genet"},{"issue":"5","key":"10.1016\/j.pjnns.2015.07.005_bib0320","doi-asserted-by":"crossref","first-page":"542","DOI":"10.1007\/s00595-012-0460-x","article-title":"Intestinal bleeding from arteriovenous malformations of the small bowel in a patient with Cowden syndrome: report of a case","volume":"43","author":"Nakayama","year":"2013","journal-title":"Surg Today"},{"key":"10.1016\/j.pjnns.2015.07.005_bib0325","doi-asserted-by":"crossref","first-page":"828","DOI":"10.1136\/jmg.37.11.828","article-title":"Will the real Cowden syndrome please stand up: revised diagnostic criteria","volume":"37","author":"Eng","year":"2000","journal-title":"J Med Genet"},{"issue":"3","key":"10.1016\/j.pjnns.2015.07.005_bib0330","doi-asserted-by":"crossref","first-page":"137","DOI":"10.1034\/j.1600-0404.2002.1r127.x","article-title":"Lhermitte-Duclos disease (dysplastic cerebellar gangliocytoma): a malformation, hamartoma or neoplasm?","volume":"105","author":"Nowak","year":"2002","journal-title":"Acta Neurol Scand"},{"issue":"1","key":"10.1016\/j.pjnns.2015.07.005_bib0335","doi-asserted-by":"crossref","first-page":"127","DOI":"10.1007\/s12311-012-0394-2","article-title":"Acute-onset cerebellar symptoms in Lhermitte-Duclos disease: case report","volume":"12","author":"Hariri","year":"2013","journal-title":"Cerebellum"},{"key":"10.1016\/j.pjnns.2015.07.005_bib0340","doi-asserted-by":"crossref","first-page":"1191","DOI":"10.1086\/379382","article-title":"Germline inactivation of PTEN and dysregulation of the phosphoinositol-3-kinase\/Akt pathway cause human Lhermitte-Duclos disease in adults","volume":"73","author":"Zhou","year":"2003","journal-title":"Am J Hum Genet"},{"issue":"1","key":"10.1016\/j.pjnns.2015.07.005_bib0345","doi-asserted-by":"crossref","first-page":"42","DOI":"10.1016\/j.ajhg.2010.11.013","article-title":"A clinical scoring system for selection of patients for PTEN mutation testing is proposed on the basis of a prospective study of 3042 probands","volume":"88","author":"Tan","year":"2011","journal-title":"Am J Hum Genet"},{"issue":"8","key":"10.1016\/j.pjnns.2015.07.005_bib0350","doi-asserted-by":"crossref","first-page":"801","DOI":"10.1016\/j.jocn.2006.06.007","article-title":"Lhermitte-Duclos associated with Cowden syndrome","volume":"14","author":"Tan","year":"2007","journal-title":"J Clin Neurosci"},{"key":"10.1016\/j.pjnns.2015.07.005_bib0355","first-page":"287","article-title":"Recurrent Lhermitte-Duclos disease: report of two cases and association with Cowden's disease","volume":"13","author":"Williams","year":"1992","journal-title":"AJNR Am J Neuroradiol"},{"key":"10.1016\/j.pjnns.2015.07.005_bib0360","unstructured":"National Comprehensive Cancer Network web site. Clinical practice guidelines in oncology. Cowden syndrome. Available from: http:\/\/www.nccn.org\/profesionals\/physican_gls\/f_guidelines.asp [accessed 05.09.11]."}],"container-title":["Neurologia i Neurochirurgia Polska"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0028384315001218?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0028384315001218?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2019,8,28]],"date-time":"2019-08-28T22:42:27Z","timestamp":1567032147000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0028384315001218"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,9]]},"references-count":36,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2015,9]]}},"alternative-id":["S0028384315001218"],"URL":"https:\/\/doi.org\/10.1016\/j.pjnns.2015.07.005","relation":{},"ISSN":["0028-3843"],"issn-type":[{"value":"0028-3843","type":"print"}],"subject":[],"published":{"date-parts":[[2015,9]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Cowden syndrome and the associated Lhermitte-Duclos disease \u2013 Case presentation","name":"articletitle","label":"Article Title"},{"value":"Neurologia i Neurochirurgia Polska","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.pjnns.2015.07.005","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"simple-article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2015 Polish Neurological Society. Published by Elsevier Sp. z o.o. All rights reserved.","name":"copyright","label":"Copyright"}]}}