{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,19]],"date-time":"2026-09-19T21:12:44Z","timestamp":1789852364055,"version":"4.0.1"},"reference-count":0,"publisher":"Bioscientifica","issue":"5","content-domain":{"domain":["erc.bioscientifica.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2020,5]]},"abstract":"\n Major clinical challenges exist with differentiated thyroid cancers with distant metastases or rare but aggressive types, such as poorly differentiated thyroid carcinomas and anaplastic thyroid carcinomas. The precise characterization of the mutational profile in these advanced thyroid cancers is crucial. Samples were collected from primary tumors and distant metastases of 64 patients with distant metastases from differentiated thyroid cancer, poorly differentiated thyroid carcinoma, or anaplastic thyroid carcinoma. Targeted next-generation sequencing was performed with 50 known thyroid-cancer-related genes. Of the 82 tissues, 63 were from primary tumors and 19 from distant metastases. The most prevalent mutation observed from the primary tumors was\n TERT<\/jats:italic>\n promoter mutation (56%), followed by\n BRAF<\/jats:italic>\n (41%) and\n RAS<\/jats:italic>\n (24%) mutations.\n TP3<\/jats:italic>\n was altered by 11%. Mutations in histone methyltransferases, SWI\/SNF subunit\u2013related genes, and PI3K\/AKT\/mTOR pathway-related genes were present in 42%, 12%, and 22%, respectively. When the mutational status was analyzed in 15 matched pairs of thyroid tumors and their matched distant metastases and one pair of distant metastases with two distinct sites, the concordance was high. A similar frequency of mutations in\n TERT<\/jats:italic>\n promoter (58%) and\n BRAF<\/jats:italic>\n (42%) as well as histone methyltransferases (37%), SWI\/SNF subunits (10%), and PI3K\/AKT\/mTOR pathway (26%) were noted. The same main, early and late mutations were practically always present in individual primary tumor\u2013metastasis pairs. Enrichment of\n TERT<\/jats:italic>\n promoter,\n BRAF<\/jats:italic>\n , and\n RAS<\/jats:italic>\n mutations were detected in highly advanced thyroid cancers with distant metastasis. The genetic profiles of primary thyroid tumors and their corresponding distant metastases showed a high concordance.\n <\/jats:p>","DOI":"10.1530\/erc-19-0452","type":"journal-article","created":{"date-parts":[[2020,3,11]],"date-time":"2020-03-11T13:33:30Z","timestamp":1583933610000},"page":"285-293","update-policy":"https:\/\/doi.org\/10.1530\/crossmarkpolicy-1","source":"Crossref","is-referenced-by-count":35,"title":["Genetic profile of advanced thyroid cancers in relation to distant metastasis"],"prefix":"10.1530","volume":"27","author":[{"given":"Eyun","family":"Song","sequence":"first","affiliation":[{"name":"1Department of Internal Medicine, Asan Medical Center, University of Ulsan College of Medicine, Songpa-gu, Seoul, Republic of Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dong Eun","family":"Song","sequence":"additional","affiliation":[{"name":"2Department of Pathology, Asan Medical Center, University of Ulsan College of Medicine, Songpa-gu, Seoul, Republic of Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jonghwa","family":"Ahn","sequence":"additional","affiliation":[{"name":"1Department of Internal Medicine, Asan Medical Center, University of Ulsan College of Medicine, Songpa-gu, Seoul, Republic of Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tae Yong","family":"Kim","sequence":"additional","affiliation":[{"name":"1Department of Internal Medicine, Asan Medical Center, University of Ulsan College of Medicine, Songpa-gu, Seoul, Republic of Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Won Bae","family":"Kim","sequence":"additional","affiliation":[{"name":"1Department of Internal Medicine, Asan Medical Center, University of Ulsan College of Medicine, Songpa-gu, Seoul, Republic of Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Young Kee","family":"Shong","sequence":"additional","affiliation":[{"name":"1Department of Internal Medicine, Asan Medical Center, University of Ulsan College of Medicine, Songpa-gu, Seoul, Republic of Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Min Ji","family":"Jeon","sequence":"additional","affiliation":[{"name":"1Department of Internal Medicine, Asan Medical Center, University of Ulsan College of Medicine, Songpa-gu, Seoul, Republic of Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Won Gu","family":"Kim","sequence":"additional","affiliation":[{"name":"1Department of Internal Medicine, Asan Medical Center, University of Ulsan College of Medicine, Songpa-gu, Seoul, Republic of Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"416","container-title":["Endocrine-Related Cancer"],"original-title":[],"link":[{"URL":"https:\/\/erc.bioscientifica.com\/view\/journals\/erc\/27\/5\/ERC-19-0452.xml","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/erc.bioscientifica.com\/downloadpdf\/journals\/erc\/27\/5\/ERC-19-0452.xml","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,7,20]],"date-time":"2026-07-20T13:55:32Z","timestamp":1784555732000},"score":1,"resource":{"primary":{"URL":"http:\/\/journals.bioscientifica.com\/erc\/article\/27\/5\/285-293\/25463"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,5]]},"references-count":0,"journal-issue":{"issue":"5"},"URL":"https:\/\/doi.org\/10.1530\/erc-19-0452","relation":{},"ISSN":["1351-0088","1479-6821"],"issn-type":[{"value":"1351-0088","type":"print"},{"value":"1479-6821","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,5]]}}}