ArticleEndocrine-related cancer2014
Diagnostic and prognostic TERT promoter mutations in thyroid fine-needle aspiration biopsy.
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 54 papers, 4 of them syntheses that pooled it.
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Who cites it
54 citing papers in PubMed, 4 syntheses or guidelines pooled it, 95 citations in OpenAlex.
- Risk Factors for TERT Promoter Mutations with Papillary Thyroid Carcinoma Patients: A Meta-Analysis and Systematic Review.Computational and mathematical methods in medicine · 2022Pooled it
- Thyroseq v3, Afirma GSC, and microRNA Panels Versus Previous Molecular Tests in the Preoperative Diagnosis of Indeterminate Thyroid Nodules: A Systematic Review and Meta-Analysis.Frontiers in endocrinology · 2021Pooled it
- Association between TERT promoter mutations and clinical behaviors in differentiated thyroid carcinoma: a systematic review and meta-analysis.Endocrine · 2020Pooled it
- The role of TERT promoter mutations in postoperative and preoperative diagnosis and prognosis in thyroid cancer.Medicine · 2018Pooled it
- Cytologic and Surgical Correlation ofInternational journal of surgical pathology · 2026Article
- Preoperative Detection of Dual TERT Promoter Mutations in Thyroid Cancer: A Case Series.Diagnostic cytopathology · 2026Article
- Utilities of next-generation sequencing in the surgical management of thyroid nodules in China.BMC endocrine disorders · 2026Article
- Pathological Diagnosis of Thyroid Nodules with Preoperatively DetectedThyroid : official journal of the American Thyroid Association · 2025Article
- Prediction of BRAF and TERT status in PTCs by machine learning-based ultrasound radiomics methods: A multicenter study.Journal of clinical & translational endocrinology · 2025Article
- Integrated intraoperative predictive model for malignancy risk assessment of thyroid nodules with atypia of undetermined significance cytology.Scientific reports · 2025Article
- Ultrasound and Clinicopathological Characteristics of Papillary Thyroid Carcinoma Predict the Coexistence of TERT Promoter and BRAFInternational journal of general medicine · 2025Article
- Article
- RAS-Mutant Follicular Thyroid Tumors: A Continuous Challenge for Pathologists.Endocrine pathology · 2024Review
- Novel method for detecting frequent TERT promoter hot spot mutations in bladder cancer samples.Clinical and experimental medicine · 2024Article
- Genetic trio of BRAF and TERT alterations and rs2853669TT in papillary thyroid cancer aggressiveness.Journal of the National Cancer Institute · 2024Article
- Histopathology of telomerase reverse transcriptase promoter (Journal of clinical & translational endocrinology · 2024Article
- The prognostic power of gene mutations in thyroid cancer.Endocrine connections · 2024Review
- Comparative Cyto-Histological Genetic Profile in a Series of Differentiated Thyroid Carcinomas.Diagnostics (Basel, Switzerland) · 2024Article
- The value of NGS-based multi-gene testing for differentiation of benign from malignant and risk stratification of thyroid nodules.Frontiers in oncology · 2024Article
- An overview of the role of telomeres and telomerase in pre‑neoplastic lesions (Review).Molecular and clinical oncology · 2023Review
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Authors and funding
2 authors at 1 institution in 1 country.
Funding
Abstract
Two promoter mutations, chr5:1 295 228C>T and chr5:1 295 250C>T, in the gene for telomerase reverse transcriptase (TERT) have been recently identified in thyroid cancers and shown to be important in thyroid tumor pathogenesis. The diagnostic and prognostic potentials of testing for these mutations on thyroid fine-needle aspiration biopsy (FNAB) have not been investigated. Herein, we examined the two TERT promoter mutations along with the BRAF V600E mutation by direct DNA sequencing on 308 FNAB specimens preoperatively obtained from thyroid nodules with postoperatively confirmed pathological diagnoses. We found TERT promoter mutations in 0.0% (0/179) of benign thyroid nodules and 7.0% (9/129) of thyroid nodules of differentiated thyroid cancer, representing a 100% diagnostic specificity and 7.0% sensitivity, with the latter rising to 38.0% (49/129) when combined with BRAF V600E testing. Several TERT-promoter-mutation-positive thyroid nodules were cytologically indeterminate on FNAB. Approximately 80% of the TERT promoter mutation-positive thyroid nodules were thyroid cancers with aggressive clinicopathological behaviors, such as extrathyroidal invasion, lymph node metastases, distant metastases, disease recurrence or patient death. Thus, a positive TERT promoter mutation test not only definitively diagnoses a thyroid nodule as cancerous but also preoperatively identifies a cancer with aggressive potential. This is the first study, to our knowledge, of TERT promoter mutations on thyroid FNAB, demonstrating the value of this novel molecular testing in the diagnosis of thyroid nodules and preoperative risk stratification of thyroid cancer. Thus, testing of TERT promoter mutations on FNAB will enhance and improve the current molecular-based approaches to the management of thyroid nodules and thyroid cancer.
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