{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,4,27]],"date-time":"2025-04-27T15:40:02Z","timestamp":1745768402049,"version":"3.40.4"},"reference-count":15,"publisher":"BMJ","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["BMJ Case Reports"],"abstract":"<jats:p>A 35-year-old woman presented with non-specific symptoms of fatigue and weight loss. Radiological investigations diagnosed a metastatic process and large bilateral adrenal masses. Histology from a liver biopsy and skin biopsy confirmed a diagnosis of metastatic medullary thyroid cancer. Further biochemical investigations revealed a positive 24-h urinary metanephrine collection and evidence of primary hyperparathyroidism. Genetic testing confirmed a mutant RET oncogene, confirming our clinical suspicion of multiple endocrine neoplasia type 2 (MEN2A) syndrome. The patient had no family history of endocrine disease and presented with widespread metastatic disease, making this an unusual presentation of MEN2A syndrome. Furthermore cutaneous metastases are rarely encountered in conjunction with metastatic medullary thyroid cancer. This case draws attention to the importance of genetic counselling in first-degree relatives of patients with confirmed MEN2A. This allows for timely diagnosis and reduced morbidity and mortality.<\/jats:p>","DOI":"10.1136\/bcr-2012-007171","type":"journal-article","created":{"date-parts":[[2013,6,7]],"date-time":"2013-06-07T03:36:13Z","timestamp":1370576173000},"page":"bcr2012007171","source":"Crossref","is-referenced-by-count":1,"title":["An unusual presentation of MEN2A"],"prefix":"10.1136","volume":"2013","author":[{"given":"R","family":"Casey","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M","family":"Bell","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M","family":"Keane","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A","family":"Smyth","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2013,6,6]]},"reference":[{"key":"2025042708123478000_2013.jun06_1.bcr2012007171.1","doi-asserted-by":"crossref","first-page":"315","DOI":"10.1007\/s11864-004-0022-6","article-title":"Multiple endocrine neoplasia type 2","volume":"2013","author":"Gertner","year":"2004","journal-title":"Curr Treat Options Oncol"},{"key":"2025042708123478000_2013.jun06_1.bcr2012007171.2","first-page":"69","article-title":"Groupe d'\u00e9tude des Tumeurs Endocrines. Clinical characteristics of multiple endocrine neoplasia","volume":"2013","author":"Conte-Devolx","year":"2010","journal-title":"Bull Acad Natl Med"},{"key":"2025042708123478000_2013.jun06_1.bcr2012007171.3","doi-asserted-by":"crossref","first-page":"45","DOI":"10.1186\/1750-1172-1-45","article-title":"Multiple endocrine neoplasia type 2","volume":"2013","author":"Marini","year":"2006","journal-title":"Orphanet J Rare Dis"},{"key":"2025042708123478000_2013.jun06_1.bcr2012007171.4","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":"2013","author":"Brandi","year":"2001","journal-title":"J Clin Endocrinol Metab"},{"key":"2025042708123478000_2013.jun06_1.bcr2012007171.5","doi-asserted-by":"crossref","first-page":"449","DOI":"10.1007\/s10689-010-9320-2","article-title":"Update multiple endocrine neoplasia type 2","volume":"2013","author":"Raue","year":"2010","journal-title":"Fam Cancer"},{"key":"2025042708123478000_2013.jun06_1.bcr2012007171.6","unstructured":"Moline J Eng C . Multiple endocrine neoplasia type 2, MEN2 syndrome. Includes: familial medullary thyroid carcinoma (FMTC), multiple endocrine neoplasia type 2A (MEN 2A, sipple syndrome), multiple endocrine neoplasia type 2B (MEN 2B, mucosal neuroma syndrome). Gene Reviews. Bookshelf ID: NBK1257PMID: 20301434."},{"key":"2025042708123478000_2013.jun06_1.bcr2012007171.7","first-page":"2415","article-title":"RET mutations in exons 13 and 14 of FMTC patients","volume":"2013","author":"Bolino","year":"1995","journal-title":"Oncogene"},{"key":"2025042708123478000_2013.jun06_1.bcr2012007171.8","doi-asserted-by":"crossref","first-page":"381","DOI":"10.1126\/science.7824936","article-title":"Activation of RET as a dominant transforming gene by germline mutations of MEN2A and MEN2B","volume":"2013","author":"Santoro","year":"1995","journal-title":"Science"},{"key":"2025042708123478000_2013.jun06_1.bcr2012007171.9","doi-asserted-by":"crossref","first-page":"828","DOI":"10.1056\/NEJM199409293311302","article-title":"Clinical screening as compared with DNA analysis in families with multiple endocrine neoplasia type 2A","volume":"2013","author":"Lips","year":"1994","journal-title":"N Engl J Med"},{"key":"2025042708123478000_2013.jun06_1.bcr2012007171.10","doi-asserted-by":"crossref","first-page":"133","DOI":"10.7326\/0003-4819-115-2-133","article-title":"Thyroid cancer: a lethal endocrine neoplasm","volume":"2013","author":"Robbins","year":"1991","journal-title":"Ann Intern Med"},{"key":"2025042708123478000_2013.jun06_1.bcr2012007171.11","doi-asserted-by":"crossref","first-page":"889","DOI":"10.1210\/jcem-58-5-889","article-title":"Diagnostic and prognostic values of carcinoembryonic antigen in medullary carcinoma of the thyroid","volume":"2013","author":"Saad","year":"1984","journal-title":"J Clin Endocrinol Metab"},{"key":"2025042708123478000_2013.jun06_1.bcr2012007171.12","doi-asserted-by":"crossref","first-page":"409","DOI":"10.1001\/archsurg.138.4.409","article-title":"Multiple endocrine neoplasia type 2: evaluation of the genotype-phenotype relationship","volume":"2013","author":"Yip","year":"2003","journal-title":"Arch Surg"},{"key":"2025042708123478000_2013.jun06_1.bcr2012007171.13","first-page":"794","article-title":"Clinical and prognostic implications of the genetic diagnosis of hereditary NET syndromes in asymptomatic patients","volume":"2013","author":"Ramundo","year":"2011","journal-title":"Horm Metab Res"},{"key":"2025042708123478000_2013.jun06_1.bcr2012007171.14","doi-asserted-by":"crossref","first-page":"957","DOI":"10.1007\/s00268-006-0769-y","article-title":"Genotype-phenotype based surgical concept of hereditary medullary thyroid carcinoma","volume":"2013","author":"Machens","year":"2007","journal-title":"World J Surg"},{"key":"2025042708123478000_2013.jun06_1.bcr2012007171.15","doi-asserted-by":"crossref","first-page":"565","DOI":"10.1089\/thy.2008.0403","article-title":"Medullary thyroid cancer: management guidelines of the American Thyroid Association","volume":"2013","author":"Kloos","year":"2009","journal-title":"Thyroid"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2012-007171","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,27]],"date-time":"2025-04-27T15:12:48Z","timestamp":1745766768000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2012-007171"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,6,6]]},"references-count":15,"alternative-id":["10.1136\/bcr-2012-007171"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2012-007171","relation":{},"ISSN":["1757-790X"],"issn-type":[{"type":"electronic","value":"1757-790X"}],"subject":[],"published":{"date-parts":[[2013,6,6]]}}}