Transcriptome analysis of papillary thyroid cancer harboring telomerase reverse transcriptase promoter mutation

Ming Nan Chien, Po Sheng Yang, Yi Chiung Hsu, Tsang Pai Liu, Jie Jen Lee, Shih Ping Cheng

Research output: Contribution to journalArticlepeer-review

17 Scopus citations


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.

Original languageEnglish
Pages (from-to)2528-2537
Number of pages10
JournalHead and Neck
Issue number11
StatePublished - Nov 2018


  • papillary thyroid cancer
  • propensity score matching
  • telomerase
  • telomerase reverse transcriptase (TERT) promoter mutation
  • transcriptome


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