Ming-Nan Chien1, Po-Sheng Yang2, Yi-Chiung Hsu3, Tsang-Pai Liu2,4, Jie-Jen Lee2,5, Shih-Ping Cheng2,5. 1. Division of Endocrinology and Metabolism, Department of Internal Medicine, MacKay Memorial Hospital and Mackay Medical College, Taipei, Taiwan. 2. Department of Surgery, MacKay Memorial Hospital and Mackay Medical College, Taipei, Taiwan. 3. Department of Biomedical Sciences and Engineering, National Central University, Taoyuan, Taiwan. 4. Mackay Junior College of Medicine, Nursing, and Management, Taipei, Taiwan. 5. Department of Pharmacology, School of Medicine, College of Medicine, Taipei Medical University, Taipei, Taiwan.
Abstract
BACKGROUND: 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. METHODS: 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. RESULTS: 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. CONCLUSION: The TERT promoter mutations were associated with proliferative and metabolic alterations in PTC.
BACKGROUND: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. METHODS: 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. RESULTS: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. CONCLUSION: The TERT promoter mutations were associated with proliferative and metabolic alterations in PTC.