ArticleEuropean urology focus2019
Characterization and Impact of TERT Promoter Region Mutations on Clinical Outcome in Renal Cell Carcinoma.
Article in European urology focus, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 32 papers.
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Who cites it
32 citing papers in PubMed, 46 citations in OpenAlex.
- Subtyping atypical eosinophilic renal cell tumours through integrated morphological, immunohistochemical, and mutational characters.BMC cancer · 2026Article
- Exploring prognostic implications of miRNA signatures and telomere maintenance genes in kidney cancer.Molecular therapy. Oncology · 2024Article
- Genetic association study ofRenal failure · 2024Article
- Epithelioid Angiomyolipoma With Prominent Papillary Architecture Mimicking Renal Cell Carcinoma: A Case Report.International journal of surgical pathology · 2024Article
- TERT promoter mutations and gene amplification in endometrial cancer.Gynecologic oncology · 2023Article
- Genetic and Epigenetic Characteristics in Isolated Pancreatic Metastases of Clear-Cell Renal Cell Carcinoma.International journal of molecular sciences · 2023Review
- Immune-pyroptosis-related genes predict the prognosis of kidney renal clear cell carcinoma.Translational oncology · 2023Article
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- Associations between TERT Promoter Mutations and Survival in Superficial Spreading and Nodular Melanomas in a Large Prospective Patient Cohort.The Journal of investigative dermatology · 2022Article
- Papillary renal cell carcinoma: a single institutional study of 199 cases addressing classification, clinicopathologic and molecular features, and treatment outcome.Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · 2022Article
- Clear cell renal cell carcinoma with stage IV cavoatrial tumour thrombus extension and rapid metastatic reoccurrence postsurgical treatment with review of current treatment strategies.BMJ case reports · 2022Article
- Chromophobe renal cell carcinoma: Novel molecular insights and clinicopathologic updates.Asian journal of urology · 2022Review
- Identification of KIF23 as a Prognostic Biomarker Associated With Progression of Clear Cell Renal Cell Carcinoma.Frontiers in cell and developmental biology · 2022Article
- Identification of a Necroptosis-Related Prognostic Index and Associated Regulatory Axis in Kidney Renal Clear Cell Carcinoma.International journal of general medicine · 2022Article
- Article
- Article
- Putative Drivers of Aggressiveness in TCEB1-mutant Renal Cell Carcinoma: An Emerging Entity with Variable Clinical Course.European urology focus · 2021Article
- A Pan-Cancer Study of Somatic TERT Promoter Mutations and Amplification in 30,773 Tumors Profiled by Clinical Genomic Sequencing.The Journal of molecular diagnostics : JMD · 2021Article
- Editorial: Applications of Metagenomics in Studying Human Cancer.Frontiers in genetics · 2021Article
- Identification of a Novel Defined Immune-Autophagy-Related Gene Signature Associated With Clinical and Prognostic Features of Kidney Renal Clear Cell Carcinoma.Frontiers in molecular biosciences · 2021Article
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Authors and funding
21 authors at 2 institutions in 2 countries.
Funding
Abstract
backgroundMutations in the promoter region of the TERT gene have been detected in a variety of cancers. These mutations can potentially lead to unlimited cell divisions and result in poor clinical prognosis.
objectiveTo determine the role and relevance of TERT promoter region mutations in both clear cell (ccRCC) and non-clear cell (nccRCC) renal cell carcinoma using ultra-deep and whole-genome sequencing methods on primary tumor samples. DESIGN, SETTING, AND
participantsDNA from 281 kidney tumors (147 ccRCC and 134 nccRCC) was sequenced between 2013 and 2015, and clinical outcomes for these patients from a single institution were retrospectively analyzed. OUTCOME MEASUREMENTS AND STATISTICAL ANALYSIS: Differences in patient characteristics and mutational status were tested using Fisher's exact test for categorical variables and the Wilcoxon rank sum test for continuous variables. Survival times were estimated using the Kaplan-Meier method and differences were tested using the log-rank test. RESULTS AND LIMITATIONS: TERT mutations occurred in 12.2% of ccRCC and 10.4% of nccRCC cases. In >80% of the cases, mutations were located at C228T and were found to co-occur only rarely with other relevant RCC driver genes. The median follow-up among survivors overall was 2.5 yr (range 0.1-18.3). TERT promoter mutations were significantly associated with cancer-specific survival in ccRCC (hazard ratio 2.68, 95% confidence interval 1.19-6.01; p=0.013). In nccRCC, TERT mutations were significantly associated with larger tumors and metastatic development. Assessment of further relevant clinical associations was precluded in the nccRCC group by the heterogeneous and small sample size.
conclusionsOur data suggests that TERT mutational status reflects a distinct pathogenesis with an aggressive disease course in RCC. Stratifying patients with this unique tumorigenesis that leads to poor clinical outcomes could be a putative target for novel therapeutics. PATIENT SUMMARY: We show a previously unrecognized frequency of TERT promoter mutations in both clear cell and non-clear cell renal cell carcinoma. TERT promoter mutations were associated with some worse outcomes in patients with clear cell renal cell carcinoma.
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