{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,11]],"date-time":"2026-09-11T01:51:21Z","timestamp":1789091481383,"version":"build-2803163510"},"reference-count":25,"publisher":"The Endocrine Society","issue":"7","funder":[{"DOI":"10.13039\/501100005010","name":"Associazione Italiana per la Ricerca sul Cancro","doi-asserted-by":"publisher","award":["AIRC, code IG15431"],"award-info":[{"award-number":["AIRC, code IG15431"]}],"id":[{"id":"10.13039\/501100005010","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2019,7,1]]},"DOI":"10.1210\/jc.2018-02102","type":"journal-article","created":{"date-parts":[[2018,12,28]],"date-time":"2018-12-28T14:08:34Z","timestamp":1546006114000},"page":"2520-2526","source":"Crossref","is-referenced-by-count":28,"title":["Fifty Years After the First Description, MEN 2B Syndrome Diagnosis Is Still Late: Descriptions of Two Recent Cases"],"prefix":"10.1210","volume":"104","author":[{"given":"Rossella","family":"Elisei","sequence":"first","affiliation":[{"name":"Unit of Endocrinology, Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antonio","family":"Matrone","sequence":"additional","affiliation":[{"name":"Unit of Endocrinology, Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura","family":"Valerio","sequence":"additional","affiliation":[{"name":"Unit of Endocrinology, Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eleonora","family":"Molinaro","sequence":"additional","affiliation":[{"name":"Unit of Endocrinology, Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura","family":"Agate","sequence":"additional","affiliation":[{"name":"Unit of Endocrinology, Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Valeria","family":"Bottici","sequence":"additional","affiliation":[{"name":"Unit of Endocrinology, Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"Viola","sequence":"additional","affiliation":[{"name":"Unit of Endocrinology, Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carlotta","family":"Giani","sequence":"additional","affiliation":[{"name":"Unit of Endocrinology, Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Virginia","family":"Cappagli","sequence":"additional","affiliation":[{"name":"Unit of Endocrinology, Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesco","family":"Latrofa","sequence":"additional","affiliation":[{"name":"Unit of Endocrinology, Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gabriele","family":"Materazzi","sequence":"additional","affiliation":[{"name":"Unit of Surgery, Department of Surgical, Medical, Molecular Pathology and Critical Area, University of Pisa, Pisa, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Liborio","family":"Torregrossa","sequence":"additional","affiliation":[{"name":"Unit of Pathology, Department of Surgical, Medical, Molecular Pathology and Critical Area, University of Pisa, Pisa, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Clara","family":"Ugolini","sequence":"additional","affiliation":[{"name":"Unit of Pathology, Department of Surgical, Medical, Molecular Pathology and Critical Area, University of Pisa, Pisa, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fulvio","family":"Basolo","sequence":"additional","affiliation":[{"name":"Unit of Pathology, Department of Surgical, Medical, Molecular Pathology and Critical Area, University of Pisa, Pisa, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5957-8902","authenticated-orcid":false,"given":"Cristina","family":"Romei","sequence":"additional","affiliation":[{"name":"Unit of Endocrinology, Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"80","published-online":{"date-parts":[[2018,12,28]]},"reference":[{"key":"2019051419194830800_B1","first-page":"282","article-title":"Multiple neurome des auges und der zunge","volume":"43","author":"Wagemmann","year":"1922","journal-title":"Ber Dtsch Ophthalmal Ges"},{"key":"2019051419194830800_B2","doi-asserted-by":"crossref","first-page":"312","DOI":"10.1007\/BF01963398","article-title":"Das aus markhaltigen nervenfasern bestehende, ganglienzellose, ecthe neurom in rankenform: zugleich ein beitrang zu den nervosen geschwulsten der zunge und des augenlides","volume":"240","author":"Froboese","year":"1923","journal-title":"Virchows Arch Pathol Anat"},{"issue":"1","key":"2019051419194830800_B3","doi-asserted-by":"crossref","first-page":"71","DOI":"10.1002\/path.1700910109","article-title":"Multiple mucosal neuromata with endocrine tumours: a syndrome allied to von Recklinghausen\u2019s disease","volume":"91","author":"Williams","year":"1966","journal-title":"J Pathol Bacteriol"},{"issue":"2","key":"2019051419194830800_B4","doi-asserted-by":"crossref","first-page":"293","DOI":"10.1002\/1097-0142(196808)22:2<293::AID-CNCR2820220206>3.0.CO;2-R","article-title":"Multiple mucosal neuromas, pheochromocytoma and medullary carcinoma of the thyroid: a syndrome","volume":"22","author":"Gorlin","year":"1968","journal-title":"Cancer"},{"issue":"3","key":"2019051419194830800_B5","doi-asserted-by":"crossref","first-page":"695","DOI":"10.1002\/1097-0142(197503)35:3<695::AID-CNCR2820350323>3.0.CO;2-W","article-title":"Medullary carcinoma of the thyroid gland","volume":"35","author":"Chong","year":"1975","journal-title":"Cancer"},{"issue":"4","key":"2019051419194830800_B6","doi-asserted-by":"crossref","first-page":"800","DOI":"10.1097\/SLA.0b013e3182a6f43a","article-title":"Surgical curability of medullary thyroid cancer in multiple endocrine neoplasia 2B: a changing perspective","volume":"259","author":"Brauckhoff","year":"2014","journal-title":"Ann Surg"},{"issue":"12","key":"2019051419194830800_B7","doi-asserted-by":"crossref","first-page":"1305","DOI":"10.1007\/s00268-004-7637-4","article-title":"Multiple endocrine neoplasia 2B syndrome due to codon 918 mutation: clinical manifestation and course in early and late onset disease","volume":"28","author":"Brauckhoff","year":"2004","journal-title":"World J Surg"},{"issue":"6","key":"2019051419194830800_B8","doi-asserted-by":"crossref","first-page":"892","DOI":"10.1111\/cen.12686","article-title":"Twenty years of lesson learning: how does the RET genetic screening test impact the clinical management of medullary thyroid cancer","volume":"82","author":"Romei","year":"2015","journal-title":"Clin Endocrinol (Oxf)"},{"key":"2019051419194830800_B9","author":"Hughes","year":"2000"},{"issue":"2","key":"2019051419194830800_B10","doi-asserted-by":"crossref","first-page":"237","DOI":"10.1093\/hmg\/3.2.237","article-title":"Point mutation within the tyrosine kinase domain of the RET proto-oncogene in multiple endocrine neoplasia type 2B and related sporadic tumours","volume":"3","author":"Eng","year":"1994","journal-title":"Hum Mol Genet"},{"issue":"6461","key":"2019051419194830800_B11","doi-asserted-by":"crossref","first-page":"375","DOI":"10.1038\/367375a0","article-title":"A mutation in the RET proto-oncogene associated with multiple endocrine neoplasia type 2B and sporadic medullary thyroid carcinoma","volume":"367","author":"Hofstra","year":"1994","journal-title":"Nature"},{"issue":"11","key":"2019051419194830800_B12","doi-asserted-by":"crossref","first-page":"3902","DOI":"10.1210\/jcem.82.11.4508","article-title":"Germline dinucleotide mutation in codon 883 of the RET proto-oncogene in multiple endocrine neoplasia type 2B without codon 918 mutation","volume":"82","author":"Gimm","year":"1997","journal-title":"J Clin Endocrinol Metab"},{"issue":"20","key":"2019051419194830800_B13","doi-asserted-by":"crossref","first-page":"10179","DOI":"10.1158\/0008-5472.CAN-06-0884","article-title":"RET is constitutively activated by novel tandem mutations that alter the active site resulting in multiple endocrine neoplasia type 2B","volume":"66","author":"Cranston","year":"2006","journal-title":"Cancer Res"},{"issue":"6","key":"2019051419194830800_B14","first-page":"1076","article-title":"Parent-of-origin effects in multiple endocrine neoplasia type 2B","volume":"55","author":"Carlson","year":"1994","journal-title":"Am J Hum Genet"},{"issue":"2","key":"2019051419194830800_B15","doi-asserted-by":"crossref","first-page":"e1002420","DOI":"10.1371\/journal.pgen.1002420","article-title":"Positive selection for new disease mutations in the human germline: evidence from the heritable cancer syndrome multiple endocrine neoplasia type 2B","volume":"8","author":"Choi","year":"2012","journal-title":"PLoS Genet"},{"issue":"3","key":"2019051419194830800_B16","doi-asserted-by":"crossref","first-page":"449","DOI":"10.1177\/2050640615611630","article-title":"Characteristics of chronic megacolon among patients diagnosed with multiple endocrine neoplasia type 2B","volume":"4","author":"Gibbons","year":"2016","journal-title":"United European Gastroenterol J"},{"issue":"10","key":"2019051419194830800_B17","doi-asserted-by":"crossref","first-page":"596","DOI":"10.1038\/nrendo.2011.139","article-title":"Management of medullary thyroid carcinoma and MEN2 syndromes in childhood","volume":"7","author":"Waguespack","year":"2011","journal-title":"Nat Rev Endocrinol"},{"issue":"26","key":"2019051419194830800_B18","doi-asserted-by":"crossref","first-page":"3919","DOI":"10.1038\/sj.onc.1202742","article-title":"Biological and biochemical properties of Ret with kinase domain mutations identified in multiple endocrine neoplasia type 2B and familial medullary thyroid carcinoma","volume":"18","author":"Iwashita","year":"1999","journal-title":"Oncogene"},{"issue":"3","key":"2019051419194830800_B19","doi-asserted-by":"crossref","first-page":"305","DOI":"10.1530\/eje.0.1470305","article-title":"Primary thyroid disorders in endogenous Cushing\u2019s syndrome","volume":"147","author":"Niepomniszcze","year":"2002","journal-title":"Eur J Endocrinol"},{"issue":"3","key":"2019051419194830800_B20","doi-asserted-by":"crossref","first-page":"E509","DOI":"10.1210\/jc.2010-1234","article-title":"Prognostic factors of disease-free survival after thyroidectomy in 170 young patients with a RET germline mutation: a multicenter study of the Groupe Francais d\u2019Etude des Tumeurs Endocrines","volume":"96","author":"Rohmer","year":"2011","journal-title":"J Clin Endocrinol Metab"},{"issue":"11","key":"2019051419194830800_B21","doi-asserted-by":"crossref","first-page":"1105","DOI":"10.1056\/NEJMoa043999","article-title":"Prophylactic thyroidectomy in multiple endocrine neoplasia type 2A","volume":"353","author":"Skinner","year":"2005","journal-title":"N Engl J Med"},{"issue":"5","key":"2019051419194830800_B22","doi-asserted-by":"crossref","first-page":"603","DOI":"10.1530\/ERC-11-0117","article-title":"In silico and in vitro analysis of rare germline allelic variants of RET oncogene associated with medullary thyroid cancer","volume":"18","author":"Cosci","year":"2011","journal-title":"Endocr Relat Cancer"},{"issue":"1","key":"2019051419194830800_B23","doi-asserted-by":"crossref","first-page":"235","DOI":"10.1210\/jc.2017-01884","article-title":"Long-term survivorship in multiple endocrine neoplasia type 2B diagnosed before and in the new millennium","volume":"103","author":"Raue","year":"2018","journal-title":"J Clin Endocrinol Metab"},{"issue":"2","key":"2019051419194830800_B24","doi-asserted-by":"crossref","first-page":"134","DOI":"10.1200\/JCO.2011.35.5040","article-title":"Vandetanib in patients with locally advanced or metastatic medullary thyroid cancer: a randomized, double-blind phase III trial","volume":"30","author":"Wells","year":"2012","journal-title":"J Clin Oncol"},{"issue":"11","key":"2019051419194830800_B25","doi-asserted-by":"crossref","first-page":"2813","DOI":"10.1093\/annonc\/mdx479","article-title":"Overall survival analysis of EXAM, a phase III trial of cabozantinib in patients with radiographically progressive medullary thyroid carcinoma","volume":"28","author":"Schlumberger","year":"2017","journal-title":"Ann Oncol"}],"container-title":["The Journal of Clinical Endocrinology &amp; Metabolism"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/academic.oup.com\/jcem\/article-pdf\/104\/7\/2520\/28646984\/jc.2018-02102.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,5,14]],"date-time":"2019-05-14T19:44:57Z","timestamp":1557863097000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/jcem\/article\/104\/7\/2520\/5262418"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,12,28]]},"references-count":25,"journal-issue":{"issue":"7","published-online":{"date-parts":[[2018,12,28]]},"published-print":{"date-parts":[[2019,7,1]]}},"URL":"https:\/\/doi.org\/10.1210\/jc.2018-02102","relation":{},"ISSN":["0021-972X","1945-7197"],"issn-type":[{"value":"0021-972X","type":"print"},{"value":"1945-7197","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2019,7]]},"published":{"date-parts":[[2018,12,28]]}}}