{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,27]],"date-time":"2026-06-27T23:47:38Z","timestamp":1782604058510,"version":"3.54.5"},"reference-count":13,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2013,10,16]],"date-time":"2013-10-16T00:00:00Z","timestamp":1381881600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Head &amp; Neck"],"published-print":{"date-parts":[[2014,1]]},"abstract":"<jats:sec><jats:title>Background<\/jats:title><jats:p>Pituitary tumors, paragangliomas, and Cowden syndrome do not usually occur together.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>The synchronous presentation of papillary thyroid carcinoma and neck paraganglioma was revealed in a 43\u2010year\u2010old woman who had been diagnosed with a microprolactinoma one decade before and now presented with a constellation of characteristics that are components of Cowden syndrome, specifically macrocephaly, multiple skin papules, fibrocystic mammary disease, and uterine leiomyofibroma.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Germline mutation analysis of phosphatase and tensin homolog (<jats:italic>PTEN<\/jats:italic>), succinate dehydrogenase subunit B (<jats:italic>SDHB<\/jats:italic>), succinate dehydrogenase subunit C (<jats:italic>SDHC<\/jats:italic>), and succinate dehydrogenase subunit D (<jats:italic>SDHD<\/jats:italic>) was performed with revelation of 3 polymorphic sites in introns 1, 4, and 8 of the <jats:italic>PTEN<\/jats:italic> gene and 1 polymorphic site in exon 1 of the <jats:italic>SDHB<\/jats:italic> gene, but absence of known pathogenic mutations.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>The coexistence of Cowden\u2010like syndrome, neck paraganglioma, and pituitary adenoma is described for the first time, and could represent a novel genetic syndrome with an as yet unidentified common genetic basis. \u00a9 2013 Wiley Periodicals, Inc. <jats:italic>Head Neck<\/jats:italic> <jats:bold>36<\/jats:bold>: E12\u2013E16, 2014<\/jats:p><\/jats:sec>","DOI":"10.1002\/hed.23420","type":"journal-article","created":{"date-parts":[[2013,6,26]],"date-time":"2013-06-26T18:28:59Z","timestamp":1372271339000},"source":"Crossref","is-referenced-by-count":11,"title":["Unusual case of Cowden\u2010like syndrome, neck paraganglioma, and pituitary adenoma"],"prefix":"10.1002","volume":"36","author":[{"given":"Zoe A.","family":"Efstathiadou","sequence":"first","affiliation":[{"name":"Department of Endocrinology \u201cHippokration\u201d General Hospital of Thessaloniki Thessaloniki Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michail","family":"Sapranidis","sequence":"additional","affiliation":[{"name":"Department of Endocrinology \u201cHippokration\u201d General Hospital of Thessaloniki Thessaloniki Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Panagiotis","family":"Anagnostis","sequence":"additional","affiliation":[{"name":"Department of Endocrinology \u201cHippokration\u201d General Hospital of Thessaloniki Thessaloniki Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marina D.","family":"Kita","sequence":"additional","affiliation":[{"name":"Department of Endocrinology \u201cHippokration\u201d General Hospital of Thessaloniki Thessaloniki Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2013,10,16]]},"reference":[{"key":"e_1_2_4_2_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2009-0496"},{"key":"e_1_2_4_3_1","doi-asserted-by":"publisher","DOI":"10.4158\/EP11070.RA"},{"key":"e_1_2_4_4_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2004.018036"},{"key":"e_1_2_4_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2008.07.011"},{"key":"e_1_2_4_6_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2011-1179"},{"key":"e_1_2_4_7_1","doi-asserted-by":"publisher","DOI":"10.1158\/0008-5472.CAN-08-4057"},{"key":"e_1_2_4_8_1","doi-asserted-by":"publisher","DOI":"10.1001\/jama.294.16.2057"},{"key":"e_1_2_4_9_1","doi-asserted-by":"publisher","DOI":"10.1001\/jama.292.8.943"},{"key":"e_1_2_4_10_1","first-page":"4710","article-title":"Somatic deletions and mutations in the Cowden disease gene, PTEN, in sporadic thyroid tumors","volume":"57","author":"Dahia PL","year":"1997","journal-title":"Cancer Res"},{"key":"e_1_2_4_11_1","doi-asserted-by":"crossref","first-page":"527","DOI":"10.1093\/ajcp\/78.4.527","article-title":"Multiple endocrine neoplasia. Pituitary adenoma, multicentric papillary thyroid carcinoma, bilateral carotid body paraganglioma, parathyroid hyperplasia, gastric leiomyoma, and systemic amyloidosis","volume":"78","author":"Larraza\u2013Hernandez O","year":"1982","journal-title":"Am J Clin Pathol"},{"key":"e_1_2_4_12_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00701-006-0895-1"},{"key":"e_1_2_4_13_1","doi-asserted-by":"publisher","DOI":"10.1038\/ncponc0935"},{"key":"e_1_2_4_14_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.35.11.881"}],"container-title":["Head &amp; Neck"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fhed.23420","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/hed.23420","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,4]],"date-time":"2023-10-04T02:39:18Z","timestamp":1696387158000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/hed.23420"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,10,16]]},"references-count":13,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2014,1]]}},"alternative-id":["10.1002\/hed.23420"],"URL":"https:\/\/doi.org\/10.1002\/hed.23420","archive":["Portico"],"relation":{},"ISSN":["1043-3074","1097-0347"],"issn-type":[{"value":"1043-3074","type":"print"},{"value":"1097-0347","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,10,16]]}}}