{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T13:54:19Z","timestamp":1753883659810,"version":"3.41.2"},"reference-count":14,"publisher":"The Endocrine Society","issue":"4","license":[{"start":{"date-parts":[[2020,2,18]],"date-time":"2020-02-18T00:00:00Z","timestamp":1581984000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2020,4,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>The coexistence of multiple endocrine neoplasia type 1 (MEN1) and type 2A (MEN2A) is a rare occurrence and has been reported only twice in the literature. We present a patient with primary hyperparathyroidism and medullary thyroid cancer with strong family history of both MEN1- and MEN2A-associated conditions. Genetic testing showed the patient had a novel MEN1 loss-of-function mutation, c0.525_526insTT (p.Ala176Leufs*10), and an uncommon Cys630Tyr RET mutation. This case highlights the importance of obtaining a detailed family history when heritable endocrine disorders are suspected.<\/jats:p>","DOI":"10.1210\/jendso\/bvaa020","type":"journal-article","created":{"date-parts":[[2020,2,18]],"date-time":"2020-02-18T18:59:24Z","timestamp":1582052364000},"source":"Crossref","is-referenced-by-count":2,"title":["Features of Multiple Endocrine Neoplasia Type 1 and 2A in a Patient with Both RET and MEN1 Germline Mutations"],"prefix":"10.1210","volume":"4","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0233-869X","authenticated-orcid":false,"given":"Spandana J","family":"Brown","sequence":"first","affiliation":[{"name":"Department of Medicine, Houston Methodist Hospital, Houston, TX, and Weill Cornell Medicine, New York, NY"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4553-5722","authenticated-orcid":false,"given":"Daniel L","family":"Riconda","sequence":"first","affiliation":[{"name":"Molecular and Human Genetics, Baylor College of Medicine, Houston, TX"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Feibi","family":"Zheng","sequence":"first","affiliation":[{"name":"Department of Surgery, Houston Methodist Hospital, Houston, TX, and Weill Cornell Medicine, New York, NY"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gilchrist L","family":"Jackson","sequence":"first","affiliation":[{"name":"Department of Surgery, Houston Methodist Hospital, Houston, TX, and Weill Cornell Medicine, New York, NY"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8838-5969","authenticated-orcid":false,"given":"Liye","family":"Suo","sequence":"first","affiliation":[{"name":"Department of Pathology & Genomic Medicine, Houston Methodist Hospital, Houston, TX, and Weill Cornell Medicine, New York, NY"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8107-5199","authenticated-orcid":false,"given":"Richard J","family":"Robbins","sequence":"first","affiliation":[{"name":"Department of Medicine, Houston Methodist Hospital, Houston, TX, and Weill Cornell Medicine, New York, NY"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"80","published-online":{"date-parts":[[2020,2,18]]},"reference":[{"key":"2020062705134516900_CIT0001","doi-asserted-by":"crossref","first-page":"339","DOI":"10.3389\/fendo.2019.00339","article-title":"Multiple Endocrine Neoplasia Type 1 (MEN1): an update and the significance of early genetic and clinical diagnosis","volume":"10","author":"Kamilaris","year":"2019","journal-title":"Front Endocrinol (Lausanne)."},{"issue":"12","key":"2020062705134516900_CIT0002","doi-asserted-by":"crossref","first-page":"5658","DOI":"10.1210\/jcem.86.12.8070","article-title":"Guidelines for diagnosis and therapy of MEN type 1 and type 2","volume":"86","author":"Brandi","year":"2001","journal-title":"J Clin Endocrinol Metab."},{"issue":"2","key":"2020062705134516900_CIT0003","doi-asserted-by":"crossref","first-page":"451","DOI":"10.1007\/s12020-019-01932-x","article-title":"True MEN1 or phenocopy? Evidence for geno-phenotypic correlations in MEN1 syndrome","volume":"65","author":"K\u00f6vesdi","year":"2019","journal-title":"Endocrine."},{"issue":"10","key":"2020062705134516900_CIT0004","doi-asserted-by":"crossref","first-page":"T195","DOI":"10.1530\/ERC-17-0243","article-title":"MEN4 and CDKN1B mutations: the latest of the MEN syndromes","volume":"24","author":"Alrezk","year":"2017","journal-title":"Endocr Relat Cancer."},{"issue":"9","key":"2020062705134516900_CIT0005","doi-asserted-by":"crossref","first-page":"2990","DOI":"10.1210\/jc.2012-1230","article-title":"Clinical practice guidelines for multiple endocrine neoplasia type 1 (MEN1)","volume":"97","author":"Thakker","year":"2012","journal-title":"J Clin Endocrinol Metab."},{"issue":"8","key":"2020062705134516900_CIT0006","doi-asserted-by":"crossref","first-page":"3149","DOI":"10.1210\/jc.2013-1204","article-title":"Multiple endocrine neoplasia type 2 and familial medullary thyroid carcinoma: an update","volume":"98","author":"Wells","year":"2013","journal-title":"J Clin Endocrinol Metab."},{"issue":"6","key":"2020062705134516900_CIT0007","doi-asserted-by":"crossref","first-page":"567","DOI":"10.1089\/thy.2014.0335","article-title":"Revised American Thyroid Association guidelines for the management of medullary thyroid carcinoma","volume":"25","author":"Wells","year":"2015","journal-title":"Thyroid."},{"issue":"7","key":"2020062705134516900_CIT0008","doi-asserted-by":"crossref","first-page":"4063","DOI":"10.1210\/jc.2004-1759","article-title":"Coincidence of multiple endocrine neoplasia types 1 and 2: mutations in the RET protooncogene and MEN1 tumor suppressor gene in a family presenting with recurrent primary hyperparathyroidism","volume":"90","author":"Frank-Raue","year":"2005","journal-title":"J Clin Endocrinol Metab."},{"issue":"3","key":"2020062705134516900_CIT0009","doi-asserted-by":"crossref","first-page":"481","DOI":"10.1007\/s12020-011-9501-2","article-title":"Coexistence of multiple endocrine neoplasia type 1 and type 2 in a large Italian family","volume":"40","author":"Mastroianno","year":"2011","journal-title":"Endocrine."},{"issue":"1","key":"2020062705134516900_CIT0010","doi-asserted-by":"crossref","first-page":"35","DOI":"10.1002\/humu.10092","article-title":"Germline mutation profile of MEN1 in multiple endocrine neoplasia type 1: search for correlation between phenotype and the functional domains of the MEN1 protein","volume":"20","author":"Wautot","year":"2002","journal-title":"Hum Mutat."},{"issue":"25","key":"2020062705134516900_CIT0011","doi-asserted-by":"crossref","first-page":"3103","DOI":"10.1038\/sj.onc.1201102","article-title":"Novel germline RET proto-oncogene mutations associated with medullary thyroid carcinoma (MTC): mutation analysis in Japanese patients with MTC","volume":"14","author":"Kitamura","year":"1997","journal-title":"Oncogene."},{"issue":"4","key":"2020062705134516900_CIT0012","doi-asserted-by":"crossref","first-page":"531","DOI":"10.1507\/endocrj.K06-145","article-title":"A family of multiple endocrine neoplasia type 2A (MEN 2A) with Cys630Tyr RET germline mutation: report of a case","volume":"54","author":"Yonekawa","year":"2007","journal-title":"Endocr J."},{"issue":"5","key":"2020062705134516900_CIT0013","doi-asserted-by":"crossref","first-page":"1042","DOI":"10.1002\/jgc4.1143","article-title":"How to inform relatives at risk of hereditary diseases? A mixed-methods systematic review on patient attitudes","volume":"28","author":"van den Heuvel","year":"2019","journal-title":"J Genet Couns."},{"issue":"1","key":"2020062705134516900_CIT0014","doi-asserted-by":"crossref","first-page":"22","DOI":"10.1002\/humu.20605","article-title":"Multiple endocrine neoplasia type 1 (MEN1): analysis of 1336 mutations reported in the first decade following identification of the gene","volume":"29","author":"Lemos","year":"2008","journal-title":"Hum Mutat."}],"container-title":["Journal of the Endocrine Society"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/academic.oup.com\/jes\/advance-article-pdf\/doi\/10.1210\/jendso\/bvaa020\/32518908\/bvaa020.pdf","content-type":"application\/pdf","content-version":"am","intended-application":"syndication"},{"URL":"http:\/\/academic.oup.com\/jes\/article-pdf\/4\/4\/bvaa020\/33436269\/bvaa020.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"http:\/\/academic.oup.com\/jes\/article-pdf\/4\/4\/bvaa020\/33436269\/bvaa020.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,6,27]],"date-time":"2020-06-27T09:14:03Z","timestamp":1593249243000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/jes\/article\/doi\/10.1210\/jendso\/bvaa020\/5740169"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,2,18]]},"references-count":14,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2020,4,1]]}},"URL":"https:\/\/doi.org\/10.1210\/jendso\/bvaa020","relation":{},"ISSN":["2472-1972"],"issn-type":[{"type":"electronic","value":"2472-1972"}],"subject":[],"published-other":{"date-parts":[[2020,4]]},"published":{"date-parts":[[2020,2,18]]},"article-number":"bvaa020"}}