{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,16]],"date-time":"2026-09-16T04:57:52Z","timestamp":1789534672786,"version":"build-2803163510"},"reference-count":20,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2006,2,23]],"date-time":"2006-02-23T00:00:00Z","timestamp":1140652800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Journal of Internal Medicine"],"published-print":{"date-parts":[[2006,4]]},"abstract":"<jats:title>Abstract.<\/jats:title><jats:p>Thymic carcinoid is a rare multiple endocrine neoplasia type 1 (MEN1)\u2010associated tumour that is a major cause of death in MEN1 patients. Here, we describe a previously unreported MEN1 family in which two siblings presented with malignant thymic carcinoids. All six siblings share a novel nonsense mutation Q395X on exon 8 of the <jats:italic>MEN1<\/jats:italic> gene. The index patient developed a thymic carcinoid despite an earlier prophylactic transcervical thymectomy, and one other sibling had an incidental malignant thymic carcinoid discovered following prophylactic thymectomy, both cases demonstrating the weakness and strength of this surgical approach. We then review the spectrum of germline <jats:italic>MEN1<\/jats:italic> mutations associated with thymic carcinoids to evaluate the possibility of a genotype\u2013phenotype correlation. In the 22 separate MEN1 families with thymic carcinoids, all but two (91%) have mutations coding for a truncated protein. There is clearly a high prevalence of truncating mutations in MEN1\u2010related thymic carcinoids although when compared with the prevalence of truncating mutations in all reported <jats:italic>MEN1<\/jats:italic> mutations, it is not statistically significant (<jats:italic>P<\/jats:italic>\u2003=\u20030.39). Further studies are warranted to evaluate pathways of tumorigenesis of thymic carcinoids with regard to loss of function of menin.<\/jats:p>","DOI":"10.1111\/j.1365-2796.2006.01619.x","type":"journal-article","created":{"date-parts":[[2006,2,23]],"date-time":"2006-02-23T11:15:05Z","timestamp":1140693305000},"page":"428-432","source":"Crossref","is-referenced-by-count":29,"title":["Thymic carcinoid in multiple endocrine neoplasia 1: genotype\u2013phenotype correlation and prevention"],"prefix":"10.1111","volume":"259","author":[{"given":"L. C.","family":"LIM","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M. H.","family":"TAN","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.","family":"ENG","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B. T.","family":"TEH","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R. C.","family":"RAJASOORYA","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2006,2,23]]},"reference":[{"key":"e_1_2_8_2_2","doi-asserted-by":"publisher","DOI":"10.1023\/A:1026562217102"},{"key":"e_1_2_8_3_2","doi-asserted-by":"publisher","DOI":"10.1002\/1097-0142(197204)29:4<1061::AID-CNCR2820290456>3.0.CO;2-3"},{"key":"e_1_2_8_4_2","doi-asserted-by":"publisher","DOI":"10.1002\/1097-0142(197204)29:4<1075::AID-CNCR2820290457>3.0.CO;2-O"},{"key":"e_1_2_8_5_2","doi-asserted-by":"publisher","DOI":"10.1097\/00000658-199807000-00015"},{"key":"e_1_2_8_6_2","doi-asserted-by":"publisher","DOI":"10.1677\/erc.0.0060449"},{"key":"e_1_2_8_7_2","first-page":"149","volume-title":"Molecular Genetics of Cancer","author":"Teh BT","year":"2001"},{"key":"e_1_2_8_8_2","doi-asserted-by":"publisher","DOI":"10.1001\/archsurg.1993.01420180085016"},{"key":"e_1_2_8_9_2","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2002-021314"},{"key":"e_1_2_8_10_2","doi-asserted-by":"publisher","DOI":"10.1097\/00005792-199701000-00002"},{"key":"e_1_2_8_11_2","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2004-1155"},{"key":"e_1_2_8_12_2","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-2265.2000.01032.x"},{"key":"e_1_2_8_13_2","doi-asserted-by":"publisher","DOI":"10.1210\/jc.83.8.2621"},{"key":"e_1_2_8_14_2","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-2265.2003.01812.x"},{"key":"e_1_2_8_15_2","doi-asserted-by":"publisher","DOI":"10.1507\/endocrj.45.753"},{"key":"e_1_2_8_16_2","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-2265.2002.01535.x"},{"key":"e_1_2_8_17_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0025-7753(01)71713-7"},{"key":"e_1_2_8_18_2","doi-asserted-by":"publisher","DOI":"10.1530\/eje.0.1390416"},{"key":"e_1_2_8_19_2","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-2265.2001.01348.x"},{"key":"e_1_2_8_20_2","doi-asserted-by":"publisher","DOI":"10.1210\/jcem.86.12.8070"},{"key":"e_1_2_8_21_2","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-2796.1998.00329.x"}],"container-title":["Journal of Internal Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fj.1365-2796.2006.01619.x","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/j.1365-2796.2006.01619.x","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,12]],"date-time":"2023-10-12T21:18:03Z","timestamp":1697145483000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/j.1365-2796.2006.01619.x"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2006,2,23]]},"references-count":20,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2006,4]]}},"alternative-id":["10.1111\/j.1365-2796.2006.01619.x"],"URL":"https:\/\/doi.org\/10.1111\/j.1365-2796.2006.01619.x","archive":["Portico"],"relation":{},"ISSN":["0954-6820","1365-2796"],"issn-type":[{"value":"0954-6820","type":"print"},{"value":"1365-2796","type":"electronic"}],"subject":[],"published":{"date-parts":[[2006,2,23]]}}}