ArticleEndocrine-related cancer2014
The activating TERT promoter mutation C228T is recurrent in subsets of adrenal tumors.
Article in Endocrine-related cancer, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 51 papers, 2 of them syntheses that pooled it.
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Who cites it
51 citing papers in PubMed, 2 syntheses or guidelines pooled it, 90 citations in OpenAlex.
- Clinical utility of TERT promoter mutations and ALK rearrangement in thyroid cancer patients with a high prevalence of the BRAF V600E mutation.Diagnostic pathology · 2016Pooled it
- Clinical Characteristics and Prognostic Significance of TERT Promoter Mutations in Cancer: A Cohort Study and a Meta-Analysis.PloS one · 2016Pooled it
- A Reduced-Intensity Conditioning Regimen for Patients with Dyskeratosis Congenita Undergoing Hematopoietic Stem Cell Transplantation.Biology of blood and marrow transplantation : journal of the American Society for Blood and Marrow Transplantation · 2016Trial
- Multi-omic analysis of SDHB-deficient pheochromocytomas and paragangliomas identifies metastasis and treatment-related molecular profiles.Nature communications · 2025Article
- Oncocytic Adrenal Tumors: A Tri-Focal Review with Integrated Cytopathological, Pathological, and Molecular Perspectives.Acta cytologica · 2025Review
- The Molecular Classification of Pheochromocytomas and Paragangliomas: Discovering the Genomic and Immune Landscape of Metastatic Disease.Endocrine pathology · 2024Review
- Non-Susceptibility Gene Variants in Head and Neck Paragangliomas.International journal of molecular sciences · 2024Article
- Genetic variants and down-regulation of CACNA1H in pheochromocytoma.Endocrine-related cancer · 2024Article
- Multi-omic analysis of SDHB-deficient pheochromocytomas and paragangliomas identifies metastasis and treatment-related molecular profiles.Research square · 2024Article
- Hot Trends in Pheochromocytoma and Paraganglioma: Are We Getting Closer to Personalized Dynamic Prognostication?Turk patoloji dergisi · 2024Review
- Tumor metabolism in pheochromocytomas: clinical and therapeutic implications.Exploration of targeted anti-tumor therapy · 2024Review
- Genomic and immune landscape Of metastatic pheochromocytoma and paraganglioma.Nature communications · 2023Article
- Papillary Thyroid Cancer and aJournal of the Endocrine Society · 2022Article
- The expression level of chicken telomerase reverse transcriptase in tumors induced by ALV-J is positively correlated with methylation and mutation of its promoter region.Veterinary research · 2022Article
- Whole-genome and transcriptome analysis of advanced adrenocortical cancer highlights multiple alterations affecting epigenome and DNA repair pathways.Cold Spring Harbor molecular case studies · 2022Article
- Review
- Genetics of Pheochromocytomas and Paragangliomas Determine the Therapeutical Approach.International journal of molecular sciences · 2022Review
- Case Report: Genetic Alterations Associated with the Progression of Carotid Paraganglioma.Current issues in molecular biology · 2021Article
- Potential Biomarkers of Metastasizing Paragangliomas and Pheochromocytomas.Life (Basel, Switzerland) · 2021Review
- Expression of telomerase reverse transcriptase in peripheral T-cell lymphoma.Cancer medicine · 2021Article
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Authors and funding
12 authors at 2 institutions in 2 countries.
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No grant is acknowledged in the PubMed record.
Abstract
The telomerase reverse transcriptase gene (TERT) encodes the reverse transcriptase component of the telomerase complex, which is essential for telomere stabilization and cell immortalization. Recent studies have demonstrated a transcriptional activation role for the TERT promoter mutations C228T and C250T in many human cancers, as well as a role in aggressive disease with potential clinical applications. Although telomerase activation is known in adrenal tumors, the underlying mechanisms are not established. We assessed C228T and C250T TERT mutations by direct Sanger sequencing in tumors of the adrenal gland, and further evaluated potential associations with clinical parameters and telomerase activation. A total of 199 tumors were evaluated, including 34 adrenocortical carcinomas (ACC), 47 adrenocortical adenomas (ACA), 105 pheochromocytomas (PCC; ten malignant and 95 benign), and 13 abdominal paragangliomas (PGL; nine malignant and four benign). TERT expression levels were determined by quantitative RT-PCR. The C228T mutation was detected in 4/34 ACCs (12%), but not in any ACA (P=0.028). C228T was also observed in one benign PCC and in one metastatic PGL. The C250T mutation was not observed in any case. In the ACC and PGL groups, TERT mutation-positive cases exhibited TERT expression, indicating telomerase activation; however, since expression was also revealed in TERT WT cases, this could denote additional mechanisms of TERT activation. To conclude, the TERT promoter mutation C228T is a recurrent event associated with TERT expression in ACCs, but rarely occurs in PGL and PCC. The involvement of the TERT gene in ACC represents a novel mutated gene in this entity.
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