{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,28]],"date-time":"2026-01-28T11:49:55Z","timestamp":1769600995375,"version":"3.49.0"},"reference-count":16,"publisher":"S. Karger AG","issue":"Suppl. 5","license":[{"start":{"date-parts":[[2007,1,1]],"date-time":"2007-01-01T00:00:00Z","timestamp":1167609600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2007,1,1]],"date-time":"2007-01-01T00:00:00Z","timestamp":1167609600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Horm Res Paediatr"],"published-print":{"date-parts":[[2007]]},"abstract":"<jats:p>&lt;i&gt;Background:&lt;\/i&gt; Multiple endocrine neoplasia type 2 (MEN-2) is an autosomal dominant tumour syndrome caused by germline-activating mutations of the &lt;i&gt;RET&lt;\/i&gt; proto-oncogene. It is clinically characterised by the presence of medullary thyroid carcinoma (MTC), bilateral pheochromocytoma and primary hyperparathyroidism (MEN-2A) within a single patient. Three distinct clinical forms have been described depending on the phenotype: (1) classic MEN-2A, (2) MEN-2B, an association of MTC, pheochromocytoma and mucosal neuroma and (3) familial MTC (FMTC), which is associated with a low incidence of other endocrinopathies. Each variant of MEN-2 results from a different &lt;i&gt;RET&lt;\/i&gt; gene mutation, with a good genotype-phenotype correlation. &lt;i&gt;Detection and Treatment:&lt;\/i&gt; Genetic testing detects nearly 100% of mutation carriers and is considered the standard of care for all first-degree relatives of patients with newly diagnosed MTC. Recommendations on the timing of prophylactic thyroidectomy and extent of surgery are based on a three risk-level classification using the genotype-phenotype correlations. &lt;i&gt;Conclusions:&lt;\/i&gt; MEN-2 provides a unique model for early prevention and cure of cancer and for stratified roles of mutation-based diagnosis of carriers.<\/jats:p>","DOI":"10.1159\/000110589","type":"journal-article","created":{"date-parts":[[2007,12,14]],"date-time":"2007-12-14T10:31:44Z","timestamp":1197628304000},"page":"101-104","source":"Crossref","is-referenced-by-count":24,"title":["Multiple Endocrine Neoplasia Type 2: 2007 Update"],"prefix":"10.1159","volume":"68","author":[{"given":"Friedhelm","family":"Raue","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Karin","family":"Frank-Raue","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2007,12,10]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1089%2Fthy.2005.15.531"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1111%2Fj.1365-2796.1995.tb01208.x"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1093%2Fhmg%2F2.7.851"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1001%2Farchinte.152.6.1250"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1210%2Fjc.83.3.770"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1210%2Fjc.86.12.5658"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1056%2FNEJMoa012915"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1055%2Fs-0029-1211997"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1210%2Fjc.85.2.919"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1001%2Fjama.276.19.1575"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1210%2Fjc.81.5.1780"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1016%2Fj.cca.2006.01.029"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1001%2Farchsurg.138.4.409"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1016%2FS0002-9343%2896%2900330-0"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1038%2Fsj.onc.1201481"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.1530%2Feje.1.02216"}],"container-title":["Hormone Research in Paediatrics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/110589","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/110589","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,24]],"date-time":"2025-04-24T02:07:00Z","timestamp":1745460420000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000110589"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2007]]},"references-count":16,"journal-issue":{"issue":"Suppl. 5","published-online":{"date-parts":[[2007,12,1]]}},"URL":"https:\/\/doi.org\/10.1159\/000110589","archive":["Portico"],"relation":{},"ISSN":["1663-2818","1663-2826"],"issn-type":[{"value":"1663-2818","type":"print"},{"value":"1663-2826","type":"electronic"}],"subject":[],"published":{"date-parts":[[2007]]}}}