ArticleDiagnostic pathology2019
Mutation profiles of follicular thyroid tumors by targeted sequencing.
Article in Diagnostic pathology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 36 papers.
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Who cites it
36 citing papers in PubMed, 61 citations in OpenAlex.
- EIF1AX Mutations in thyroid nodules and advanced thyroid carcinoma: a systematic review and meta-analysis.Virchows Archiv : an international journal of pathology · 2026Review
- Thyroid Tumors of Uncertain Malignant Potential (UMP)- Clinicopathologic and Molecular Characterization of 324 Cases.Endocrine pathology · 2026Article
- Integrating Robotic Bilateral Axillo-Breast Approach Thyroidectomy with Molecular Diagnostics and Artificial Intelligence in Thyroid Cancer Care.Biomolecules & therapeutics · 2026Review
- Encapsulated neoplasms of the thyroid gland.Virchows Archiv : an international journal of pathology · 2026Review
- Review
- Tenascin-C Potentiates Wnt Signaling in Thyroid Cancer.Endocrinology · 2025Article
- Risk factors and survival analysis of patients with distant metastatic follicular thyroid cancer.Frontiers in endocrinology · 2025Article
- Routine Blood Tests as Predictive Tools for Differentiating Follicular Thyroid Carcinoma From Follicular Adenoma.International journal of general medicine · 2025Article
- EIF1AX mutation in thyroid nodules: a histopathologic analysis of 56 cases in the context of institutional practices.Virchows Archiv : an international journal of pathology · 2024Article
- Review
- Role of hypermethylated SLC5A8 in follicular thyroid cancer diagnosis and prognosis prediction.World journal of surgical oncology · 2023Article
- Article
- Histology-based and cytology-based needle sampling for targeted next-generation sequencing in the indeterminate thyroid tumors.European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery · 2023Article
- MicroRNA expression profiling of RAS-mutant thyroid tumors with follicular architecture: microRNA signatures to discriminate benign from malignant lesions.Journal of endocrinological investigation · 2023Article
- Prognostic Indicators ofCancers · 2022Article
- Unexpected Widespread Bone Metastases from a BRAF K601N Mutated Follicular Thyroid Carcinoma within a Previously Resected Multinodular Goiter.Endocrine pathology · 2022Article
- EIF1AX mutation in thyroid tumors: a retrospective analysis of cytology, histopathology and co-mutation profiles.Journal of otolaryngology - head & neck surgery = Le Journal d'oto-rhino-laryngologie et de chirurgie cervico-faciale · 2022Article
- Molecular Testing for Thyroid Nodules: The Experience at McGill University Teaching Hospitals in Canada.Cancers · 2022Review
- Diagnostic performance of next-generation sequencing and genetic profiling in thyroid nodules from a single center in China.European thyroid journal · 2022Article
- Overview of the 2022 WHO Classification of Thyroid Neoplasms.Endocrine pathology · 2022Review
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Authors and funding
6 authors at 2 institutions in 1 country.
Funding
Abstract
backgroundOne of the major challenges remaining in the classification of thyroid tumor is the determination of whether a nodule is benign or malignant. We aimed to characterize the mutational profiles of follicular thyroid tumor and to identify markers with potential diagnostic and prognostic implications.
methodsTargeted sequencing with a panel of 18 thyroid cancer-related genes was performed on 48 tissue samples from follicular thyroid adenoma (FTA), 32 follicular tumors of uncertain malignant potential (FT-UMP), 17 well-differentiated tumors of uncertain malignant potential (WDT-UMP) and 53 samples from follicular thyroid carcinoma (FTC). The correlation of mutation profiles and clinicopathological features and prognosis were also analyzed.
resultsWe identified 95 nonsilent mutations spanning 14 genes. Specifically, TERT promoter (TERTp) mutations were exclusively detected in FTC. A total of 80% EIF1AX exon 2 mutations (4/5) and 75% TSHR mutations (3/4) occurred in FTA, whereas the rest of them occurred in FT-UMP. KRAS mutations and TP53 mutations were only presented in borderline or malignant tumors. H/N-RAS mutations were detected in all four subtypes, but were most commonly found in WDT-UMP (p = 0.031). All N-RAS mutations were located at codon 61. BRAF V600E and RET fusion were absent in the entire cohort. In FTC cases, EIF1AX mutations were all located at intron 5/exon 6 and correlated with advanced disease (p = 0.032). Both EIF1AX and TERTp mutations predicted shorter disease-free survival (p = 0.007, p = 0.024, respectively). Further analysis revealed that TERTp mutations were correlated with shorter disease-free survival in patients with minimally invasive /encapsulated angioinvasive FTC (p = 0.017), but not in those with widely invasive FTC (p = 0.297).
conclusionTERTp, EIF1AX, TSHR, H/N/K-RAS and TP53 mutations may have diagnostic or prognostic potential in follicular thyroid tumors. TERTp mutations may predict a poor outcome in patients with minimally invasive/encapsulated angioinvasive FTC.
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