{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,4]],"date-time":"2026-05-04T06:26:34Z","timestamp":1777875994949,"version":"3.51.4"},"reference-count":20,"publisher":"SAGE Publications","issue":"1","license":[{"start":{"date-parts":[[2025,1,1]],"date-time":"2025-01-01T00:00:00Z","timestamp":1735689600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Thyroid\u00ae"],"published-print":{"date-parts":[[2025,1]]},"abstract":"\n Background:<\/jats:title>\n \n Anaplastic thyroid cancer (ATC) is a rare but one of the most lethal types of human cancer. Although increasing evidence demonstrated that ATC tumors had a high mutation burden, little is known about the aberrancy of the noncoding genome of ATC except the well-investigated\n telomerase reverse transcriptase<\/jats:italic>\n (\n TERT<\/jats:italic>\n ) promoter mutations.\n <\/jats:p>\n <\/jats:sec>\n \n Methods:<\/jats:title>\n \n The mutational statuses of\n TBC1D12<\/jats:italic>\n 5\u2032 untranslated region (5\u2032UTR),\n GPR126<\/jats:italic>\n intron 6,\n SDHD<\/jats:italic>\n and\n PLEKHS1<\/jats:italic>\n promoters, as well as the\n TERT<\/jats:italic>\n promoter and\n \n BRAF\n V600E<\/jats:sup>\n <\/jats:italic>\n mutations were determined using Sanger sequencing in 28 patients with ATC (19 women and 9 men) with a median (interquartile range) age of 64 (55\u201371) years, 14 thyroid cancer cell lines and a normal thyroid cell line. The prevalence of\n TBC1D12<\/jats:italic>\n 5\u2032UTR mutations in papillary thyroid cancer (PTC) and their association with clinicopathologic characteristics were explored by analyzing The Cancer Genome Atlas thyroid cancer dataset.\n <\/jats:p>\n <\/jats:sec>\n \n Results:<\/jats:title>\n \n The noncoding mutations in\n TERT<\/jats:italic>\n ,\n SDHD<\/jats:italic>\n and\n PLEKHS1<\/jats:italic>\n promoters,\n TBC1D12<\/jats:italic>\n 5\u2032UTR, and\n GPR126<\/jats:italic>\n intron 6 were collectively found in 82.1% (23\/28) of ATC samples. Specifically,\n TERT<\/jats:italic>\n promoter mutations were detected in 22 (78.6%) samples;\n GPR126<\/jats:italic>\n intron mutations were detected in 2 (7.1%) samples; and both\n SDHD<\/jats:italic>\n and\n PLEKHS1<\/jats:italic>\n promoter mutations were detected in 1 (3.6%) ATC sample. Two hotspot mutations in\n TBC1D12<\/jats:italic>\n 5\u2032UTR were observed in 14 of 28 (50%) ATCs, 7 of 492 (1.4%) PTCs, and 1 cell line derived from ATC.\n TBC1D12<\/jats:italic>\n 5\u2032UTR mutations were significantly associated with older age at diagnosis (60 vs. 46 for wild type,\n p<\/jats:italic>\n = 0.003), pathological T3\/T4 stage (85.7% vs. 37.7%,\n p<\/jats:italic>\n = 0.010), and advanced tumor stages (85.7% vs. 32.5%,\n p<\/jats:italic>\n = 0.006) in PTC.\n <\/jats:p>\n <\/jats:sec>\n \n Conclusions:<\/jats:title>\n \n This preliminary study for the first time showed a high prevalence of\n TBC1D12<\/jats:italic>\n 5\u2032UTR mutations in ATC and indicated an association between\n TBC1D12<\/jats:italic>\n mutation and aggressive characteristics of PTC, which needs to be confirmed in large cohort studies.\n <\/jats:p>\n <\/jats:sec>","DOI":"10.1089\/thy.2024.0345","type":"journal-article","created":{"date-parts":[[2024,12,17]],"date-time":"2024-12-17T00:24:51Z","timestamp":1734395091000},"page":"115-119","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":3,"title":["High Prevalence of\n TBC1D12<\/i>\n 5\u2032UTR Mutations in Anaplastic Thyroid Cancer"],"prefix":"10.1177","volume":"35","author":[{"given":"Guanghui","family":"Hu","sequence":"first","affiliation":[{"name":"Department of Endocrinology, The First Affiliated Hospital, Sun Yat-Sen University, Guangzhou, China."},{"name":"Institute of Precision Medicine, The First Affiliated Hospital, Sun Yat-Sen University, Guangzhou, China."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Junyu","family":"Xue","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, The First Affiliated Hospital, Sun Yat-Sen University, Guangzhou, China."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ju","family":"Yu","sequence":"additional","affiliation":[{"name":"Department of Breast and Thyroid Surgery, The First Affiliated Hospital, Sun Yat-Sen University, Guangzhou, China."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Qianyi","family":"Dou","sequence":"additional","affiliation":[{"name":"Department of Medical Ultrasonics, The First Affiliated Hospital, Sun Yat-Sen University, Guangzhou, China."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ye","family":"Sang","sequence":"additional","affiliation":[{"name":"Institute of Precision Medicine, The First Affiliated Hospital, Sun Yat-Sen University, Guangzhou, China."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anjia","family":"Han","sequence":"additional","affiliation":[{"name":"Department of Pathology, The First Affiliated Hospital, Sun Yat-Sen University, Guangzhou, China."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Weiming","family":"Lv","sequence":"additional","affiliation":[{"name":"Department of Breast and Thyroid Surgery, The First Affiliated Hospital, Sun Yat-Sen University, Guangzhou, China."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jie","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Breast and Thyroid Surgery, The First Affiliated Hospital, Sun Yat-Sen University, Guangzhou, China."},{"name":"Department of Breast and Thyroid Surgery, Guangzhou Women and Children\u2019s Medical Center, Guangzhou Medical University, Guangdong Provincial Clinical Research Center for Child Health, Guangzhou, China."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1408-2372","authenticated-orcid":false,"given":"Rengyun","family":"Liu","sequence":"additional","affiliation":[{"name":"Institute of Precision Medicine, The First Affiliated Hospital, Sun Yat-Sen University, Guangzhou, China."}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2025,1,16]]},"reference":[{"key":"e_1_3_5_2_2","doi-asserted-by":"publisher","DOI":"10.1172\/jci85271"},{"key":"e_1_3_5_3_2","doi-asserted-by":"publisher","DOI":"10.1158\/1078-0432.Ccr-18-0373"},{"key":"e_1_3_5_4_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.celrep.2024.113826"},{"key":"e_1_3_5_5_2","doi-asserted-by":"publisher","DOI":"10.1530\/erc-15-0533"},{"key":"e_1_3_5_6_2","doi-asserted-by":"publisher","DOI":"10.1089\/thy.2020.0086"},{"key":"e_1_3_5_7_2","doi-asserted-by":"publisher","DOI":"10.1038\/s41467-018-03033-1"},{"key":"e_1_3_5_8_2","doi-asserted-by":"publisher","DOI":"10.1089\/thy.2018.0314"},{"key":"e_1_3_5_9_2","doi-asserted-by":"publisher","DOI":"10.1001\/jamaoncol.2016.3288"},{"key":"e_1_3_5_10_2","doi-asserted-by":"publisher","DOI":"10.1093\/jnci\/djad265"},{"key":"e_1_3_5_11_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2014.09.050"},{"key":"e_1_3_5_12_2","doi-asserted-by":"publisher","DOI":"10.1038\/nature22992"},{"key":"e_1_3_5_13_2","doi-asserted-by":"publisher","DOI":"10.3233\/blc-200278"},{"key":"e_1_3_5_14_2","doi-asserted-by":"publisher","DOI":"10.1007\/s12253-018-0468-7"},{"key":"e_1_3_5_15_2","doi-asserted-by":"publisher","DOI":"10.1126\/science.aaw2872"},{"key":"e_1_3_5_16_2","doi-asserted-by":"publisher","DOI":"10.1038\/s41467-019-08576-5"},{"key":"e_1_3_5_17_2","doi-asserted-by":"publisher","DOI":"10.1158\/0008-5472.Can-16-0919"},{"key":"e_1_3_5_18_2","doi-asserted-by":"publisher","DOI":"10.1158\/2159-8290.Cd-18-0825"},{"key":"e_1_3_5_19_2","doi-asserted-by":"publisher","DOI":"10.1089\/thy.2019.0459"},{"key":"e_1_3_5_20_2","doi-asserted-by":"publisher","DOI":"10.3390\/cancers12082133"},{"key":"e_1_3_5_21_2","doi-asserted-by":"publisher","DOI":"10.1089\/thy.2020.0728"}],"container-title":["Thyroid\u00ae"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1089\/thy.2024.0345","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1089\/thy.2024.0345","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1089\/thy.2024.0345","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,30]],"date-time":"2026-04-30T22:12:07Z","timestamp":1777587127000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1089\/thy.2024.0345"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,1]]},"references-count":20,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2025,1]]}},"alternative-id":["10.1089\/thy.2024.0345"],"URL":"https:\/\/doi.org\/10.1089\/thy.2024.0345","relation":{},"ISSN":["1050-7256","1557-9077"],"issn-type":[{"value":"1050-7256","type":"print"},{"value":"1557-9077","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,1]]}}}