{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,20]],"date-time":"2026-07-20T14:20:47Z","timestamp":1784557247176,"version":"3.55.0"},"reference-count":13,"publisher":"Bioscientifica","issue":"1","content-domain":{"domain":["erc.bioscientifica.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2024,10,30]]},"abstract":"<jats:p>\n                    Multiple endocrine neoplasia type 2 (MEN2) is the collective term for two distinct types of autosomal dominantly inherited neuroendocrine neoplasm syndromes: MEN2A and MEN2B (or MEN3). MEN2 is characterised by medullary thyroid cancer (MTC) (99%) and phaeochromocytoma (50%) and also other conditions according to specific genotype. MEN2A also includes a 25% risk of developing parathyroid hyperplasia and is now recognised as four separate syndromes: classic MEN2A, MEN2A with cutaneous lichen amyloidosis, MEN2A with Hirschsprung\u2019s disease and familial MTC. MEN2B accounts for around 5% of all MEN2 cases and predisposes patients to diffuse intestinal ganglioneuromatosis, mucosal neuromas and musculoskeletal abnormalities. MEN2 is autosomal dominantly inherited, meaning that several generations in a single family may be affected by the same syndrome. We present a mini review of four case studies (\u00d72 MEN2A and \u00d72 MEN2B) that illustrate the advantages of\n                    <jats:italic>RET<\/jats:italic>\n                    testing, as well as some of the likely obstacles that must be overcome to receive a diagnosis of MEN2A or MEN2B. In addition, despite improved genotype\/phenotype correlation in MEN2, we highlight that not all cases are \u2018typical\u2019, which emphasises the need for all MEN2 patients to be cared for in a centre of expertise and experience. Some of our case study patients or their parents also took this opportunity to personally tell us more about their lives with MEN2, illustrating the need for more research into the psychosocial impact of these hereditary diseases.\n                  <\/jats:p>","DOI":"10.1530\/erc-24-0130","type":"journal-article","created":{"date-parts":[[2024,10,30]],"date-time":"2024-10-30T14:40:43Z","timestamp":1730299243000},"update-policy":"https:\/\/doi.org\/10.1530\/crossmarkpolicy-8","source":"Crossref","is-referenced-by-count":2,"title":["Living with a RET gene mutation: patient perspectives"],"prefix":"10.1530","volume":"32","author":[{"given":"Caroline","family":"Brain","sequence":"first","affiliation":[{"name":"Great Ormond Street Hospital for Children, London, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0001-1953-1632","authenticated-orcid":true,"given":"Joanna","family":"Grey","sequence":"additional","affiliation":[{"name":"Association for Multiple Endocrine Neoplasia Disorders (AMEND), Tonbridge, Kent, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kirstie","family":"Purnell","sequence":"additional","affiliation":[{"name":"Association for Multiple Endocrine Neoplasia Disorders (AMEND), Tonbridge, Kent, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"416","reference":[{"key":"bib1","series-title":"Endocr Relat Cancer","first-page":"1","article-title":"Neuroendocrine tumours","volume":"11","author":"Barakat MT","year":"2004","unstructured":"Barakat MT, Meeran K & Bloom SR 2004 Neuroendocrine tumours. Endocr Relat Cancer 11 1\u201318. (https:\/\/doi.org\/10.1677\/erc.0.0110001)"},{"key":"bib2","series-title":"J Clin Endocrinol Metab","first-page":"5658","article-title":"CONSENSUS: guidelines for diagnosis and therapy of MEN type 1 and type 2","volume":"86","author":"Brandi ML","year":"2001","unstructured":"Brandi ML, Gagel RF, Angeli A, et al. 2001 CONSENSUS: guidelines for diagnosis and therapy of MEN type 1 and type 2. J Clin Endocrinol Metab 86 5658\u20135671. (https:\/\/doi.org\/10.1210\/jcem.86.12.8070)"},{"key":"bib3","series-title":"Endocr Relat Cancer","first-page":"T29","article-title":"A comprehensive review on MEN2B","volume":"25","author":"Castinetti F","year":"2018","unstructured":"Castinetti F, Moley J, Mulligan L, et al. 2018 A comprehensive review on MEN2B. Endocr Relat Cancer 25 T29\u2013T39. (https:\/\/doi.org\/10.1530\/ERC-17-0209)"},{"key":"bib4","series-title":"Hum Mol Genet","first-page":"851","article-title":"Mutations in the RET proto-oncogene are associated with MEN 2A and FMTC","volume":"2","author":"Donis-Keller H","year":"1993","unstructured":"Donis-Keller H, Dou S, Chi D, et al. 1993 Mutations in the RET proto-oncogene are associated with MEN 2A and FMTC. Hum Mol Genet 2 851\u2013856. (https:\/\/doi.org\/10.1093\/hmg\/2.7.851)"},{"key":"bib5","series-title":"Hum Mol Genet","first-page":"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 C","year":"1994","unstructured":"Eng C, Smith DP, Mulligan LM, et al. 1994 Point mutation within the tyrosine kinase domain of the RET proto-oncogene in multiple endocrine neoplasia type 2B and related sporadic tumours. Hum Mol Genet 3 237\u2013241. 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(https:\/\/doi.org\/10.1111\/cen.14823)"},{"key":"bib8","series-title":"Int J Clin Diagn Pathol","first-page":"1","article-title":"Selpercatinib induced intestinal lymphangiectasia in RET fusion positive metastatic non-small cell lung cancer","volume":"5","author":"Mansoor N","year":"2022","unstructured":"Mansoor N, Andrabi SY, Fung H, et al. 2022 Selpercatinib induced intestinal lymphangiectasia in RET fusion positive metastatic non-small cell lung cancer. Int J Clin Diagn Pathol 5 1\u20133. (https:\/\/doi.org\/10.33545\/pathol.2023.v6.i3a.533)"},{"key":"bib9","series-title":"Clin Genet","first-page":"1","article-title":"RET codon 804 mutations in multiple endocrine neoplasia 2: genotype\u2013phenotype correlations and implications in clinical management","volume":"79","author":"Mukherjee S","year":"2011","unstructured":"Mukherjee S & Zakalik D 2011 RET codon 804 mutations in multiple endocrine neoplasia 2: genotype\u2013phenotype correlations and implications in clinical management. Clin Genet 79 1\u201316. (https:\/\/doi.org\/10.1111\/j.1399-0004.2010.01453.x)"},{"key":"bib10","series-title":"Nature","first-page":"458","article-title":"Germ-line mutations of the RET proto-oncogene in multiple endocrine neoplasia type 2A","volume":"363","author":"Mulligan LM","year":"1993","unstructured":"Mulligan LM, Kwok JB, Healey CS, et al. 1993 Germ-line mutations of the RET proto-oncogene in multiple endocrine neoplasia type 2A. Nature 363 458\u2013460. (https:\/\/doi.org\/10.1038\/363458a0)"},{"key":"bib11","series-title":"Nat Genet","first-page":"70","article-title":"Specific mutations of the RET proto-oncogene are related to disease phenotype in MEN 2A and FMTC","volume":"6","author":"Mulligan LM","year":"1994","unstructured":"Mulligan LM, Eng C, Healey CS, et al. 1994 Specific mutations of the RET proto-oncogene are related to disease phenotype in MEN 2A and FMTC. Nat Genet 6 70\u201374. (https:\/\/doi.org\/10.1038\/ng0194-70)"},{"key":"bib13","series-title":"Thyroid","first-page":"1096","article-title":"Prevalence by age and predictors of medullary thyroid cancer in patients with lower risk germline RET proto-oncogene mutations","volume":"24","author":"Rich TA","year":"2014","unstructured":"Rich TA, Feng L, Busaidy N, et al. 2014 Prevalence by age and predictors of medullary thyroid cancer in patients with lower risk germline RET proto-oncogene mutations. Thyroid 24 1096\u20131106. (https:\/\/doi.org\/10.1089\/thy.2013.0620)"},{"key":"bib14","series-title":"Thyroid","first-page":"567","article-title":"Revised American Thyroid Association guidelines for the management of medullary thyroid carcinoma: the American Thyroid Association Guidelines Task Force on Medullary Thyroid Carcinoma","volume":"25","author":"Wells SA Jr","year":"2015","unstructured":"Wells SA Jr, Asa SL, Dralle H, et al. 2015 Revised American Thyroid Association guidelines for the management of medullary thyroid carcinoma: the American Thyroid Association Guidelines Task Force on Medullary Thyroid Carcinoma. Thyroid 25 567\u2013610. (https:\/\/doi.org\/10.1089\/thy.2014.0335)"}],"container-title":["Endocrine-Related Cancer"],"original-title":[],"link":[{"URL":"https:\/\/erc.bioscientifica.com\/view\/journals\/erc\/32\/1\/ERC-24-0130.xml","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/erc.bioscientifica.com\/downloadpdf\/journals\/erc\/32\/1\/ERC-24-0130.xml","content-type":"text\/html","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/erc.bioscientifica.com\/downloadpdf\/journals\/erc\/32\/1\/ERC-24-0130.xml","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,7,20]],"date-time":"2026-07-20T13:56:49Z","timestamp":1784555809000},"score":1,"resource":{"primary":{"URL":"http:\/\/journals.bioscientifica.com\/erc\/article\/25892"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,10,30]]},"references-count":13,"journal-issue":{"issue":"1"},"URL":"https:\/\/doi.org\/10.1530\/erc-24-0130","relation":{},"ISSN":["1351-0088","1479-6821"],"issn-type":[{"value":"1351-0088","type":"print"},{"value":"1479-6821","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,10,30]]}}}