首页 / 院系成果 / 成果详情页

Highly prevalent TERT promoter mutations in aggressive thyroid cancers 期刊论文 WOS高被引论文

编号：

83fd08ce-e6b4-4b5f-aaf5-a8f16af2ad1e
作者：

Liu, Xiaoli#^[1]Bishop, Justin^[2];Shan, Yuan^[3,4];Pai, Sara^[5];Liu, Dingxie^[1];Murugan, Avaniyapuram Kannan^[1];Sun, Hui(孙辉)^[6]ElNaggar, Adel K.^[7];Xing, Mingzhao*^[1]
语种：

英文
期刊：

ENDOCRINE-RELATED CANCER ISSN：1351-0088 2013 年 20 卷 4 期 (603 - 610) ; AUG
收录：
关键词：

TERT promoter mutations thyroid cancers BRAF V600E mutation telomerase reverse transcriptase thyroid tumorigenesis
摘要：

Mutations 1 295 228 C > T and 1 295 250 C > T (termed C228T and C250T respectively), corresponding to -124 C > T and -146 C > T from the translation start site in the promoter of the telomerase reverse transcriptase (TERT) gene, have recently been reported in human cancers, but not in thyroid cancers yet. We explored these mutations in thyroid cancers by genomic sequencing of a large number of primary tumor samples. We found the C228T mutation in 0 of 85 (0.0%) benign thyroid tumors, 30 of 257 (11.7%) papillary thyroid cancers (PTC), 9 of 79 (11.4%) follicular thyroid cancers (FTC), 3 of 8 (37.5%) poorly differentiated thyroid cancers (PDTC), 23 of 54 (42.6%) anaplastic thyroid cancers (ATC), and 8 of 12 (66.7%) thyroid cancer cell lines. The C250T mutation was uncommon, but mutually exclusive with the C228T mutation, and the two mutations were collectively found in 11 of 79 (13.9%) FTC, 25 of 54 (46.3%) ATC, and 11 of 12 (91.7%) thyroid cancer cell lines. Among PTC variants, the C228T mutation was found in 4 of 13 (30.8%) tall-cell PTC (TCPTC), 23 of 187 (12.3%) conventional PTC, and 2 of 56 (3.6%) follicular variant PTC samples. No TERT mutation was found in 16 medullary thyroid cancer samples. The C228T mutation was associated with the BRAF V600E mutation in PTC, being present in 19 of 104 (18.3%) BRAF mutation-positive PTC vs 11 of 153 (7.2%) the BRAF mutation-negative PTC samples (P = 0.0094). Conversely, BRAF mutation was found in 19 of 30 (63.3%) C228T mutation-positive PTC vs 85 of 227 (37.4%) C228T mutation-negative PTC samples (P = 0.0094). We thus for the first time, to our knowledge, demonstrate TERT promoter mutations in thyroid cancers, that are particularly prevalent in the aggressive thyroid cancers TCPTC, PDTC, ATC and BRAF mutation-positive PTC, revealing a novel genetic background for thyroid cancers.
推荐引用方式
GB/T 7714：

Liu Xiaoli,Bishop Justin,Shan Yuan, et al. Highly prevalent TERT promoter mutations in aggressive thyroid cancers [J].ENDOCRINE-RELATED CANCER,2013,20(4):603-610.
APA：

Liu Xiaoli,Bishop Justin,Shan Yuan,Pai Sara,&Xing Mingzhao.(2013).Highly prevalent TERT promoter mutations in aggressive thyroid cancers .ENDOCRINE-RELATED CANCER,20(4):603-610.
MLA：

Liu Xiaoli, et al. "Highly prevalent TERT promoter mutations in aggressive thyroid cancers" .ENDOCRINE-RELATED CANCER 20,4(2013):603-610.
条目包含文件：

文件类型：PDF,文件大小：

正在加载全文

未找到全文

浏览次数：292  下载次数：0

分享到：

浏览次数：292

下载次数：0

打印次数：0