Division of Endocrinology and Metabolism, Department of Internal Medicine, MacKay Memorial Hospital and Mackay Medical College, Taipei, Taiwan.
Department of Surgery, MacKay Memorial Hospital and Mackay Medical College, Taipei, Taiwan.
Head Neck. 2018 Nov;40(11):2528-2537. doi: 10.1002/hed.25385. Epub 2018 Aug 13.
Telomerase reverse transcriptase (TERT) promoter mutations have recently been identified as an important prognostic factor in thyroid cancer. Studies suggest that TERT may have noncanonical functions beyond telomere maintenance.
Clinicopathological information and transcriptome data for papillary thyroid carcinoma (PTC) samples were obtained from The Cancer Genome Atlas (TCGA). Propensity score matching was performed to adjust for potential confounding variables between the TERT promoter wild-type group and the mutant group. Gene expression data of 36 patients in the mutant group were systemically compared to those of 72 patients in the wild-type group.
Tumors with TERT promoter mutations had a higher TERT expression. Pathways central to DNA damage responses and cell cycle regulation were significantly enriched among 888 upregulated genes. Transporter and metabolic activities were overrepresented among 799 downregulated genes. There was no difference in the expression of most of the thyroid differentiation genes.
The TERT promoter mutations were associated with proliferative and metabolic alterations in PTC.
端粒酶逆转录酶（TERT）启动子突变最近被确定为甲状腺癌的一个重要预后因素。研究表明，TERT 可能具有超越端粒维持的非规范功能。
从癌症基因组图谱（TCGA）获取乳头状甲状腺癌（PTC）样本的临床病理信息和转录组数据。通过倾向评分匹配来调整 TERT 启动子野生型组和突变型组之间的潜在混杂变量。系统比较了突变组 36 名患者和野生型组 72 名患者的基因表达数据。
TERT 启动子突变的肿瘤具有更高的 TERT 表达。在 888 个上调基因中，与 DNA 损伤反应和细胞周期调控相关的途径显著富集。在 799 个下调基因中，转运蛋白和代谢活性过度表达。大多数甲状腺分化基因的表达没有差异。
TERT 启动子突变与 PTC 的增殖和代谢改变有关。
