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Transcriptome analysis of papillary thyroid cancer harboring telomerase reverse transcriptase promoter mutation
Ming-Nan Chien1, Po-Sheng Yang2, Yi-Chiung Hsu3
1Division of Endocrinology and Metabolism, Department of Internal Medicine, MacKay Memorial Hospital and Mackay Medical College, Taipei, Taiwan.
Head & Neck
|August 14, 2018
Summary
Telomerase reverse transcriptase (TERT) promoter mutations in thyroid cancer are linked to increased TERT expression and significant changes in cell proliferation and metabolism, impacting cancer progression.
Area of Science:
- Oncology
- Molecular Biology
- Genetics
Background:
- Telomerase reverse transcriptase (TERT) promoter mutations are emerging as key prognostic factors in thyroid cancer.
- TERT may possess functions beyond its role in telomere maintenance.
Purpose of the Study:
- To investigate the impact of TERT promoter mutations on gene expression and cellular pathways in papillary thyroid carcinoma (PTC).
Main Methods:
- Utilized The Cancer Genome Atlas (TCGA) data for PTC.
- Employed propensity score matching to compare TERT promoter mutant and wild-type groups.
- Analyzed transcriptome data from 36 mutant and 72 wild-type PTC samples.
Main Results:
- TERT promoter mutations correlated with higher TERT expression.
- Upregulated genes were enriched in DNA damage response and cell cycle pathways.
- Downregulated genes were associated with transporter and metabolic activities.
- No significant difference in thyroid differentiation gene expression was observed.
Conclusions:
- TERT promoter mutations in PTC are associated with significant alterations in cellular proliferation and metabolism.
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