ArticleEuropean thyroid journal2022
Diagnostic performance of next-generation sequencing and genetic profiling in thyroid nodules from a single center in China.
Article in European thyroid journal, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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13 citing papers in PubMed, 17 citations in OpenAlex.
- Diagnostic Utility of a Cost-Effective Four-Gene Next Generation Sequencing Panel for Predicting Papillary Thyroid Carcinoma in Indeterminate Thyroid Cytology: A Multicenter Study in China.Cancer medicine · 2026Article
- Proteogenomic characterization delineates clinically relevant subtypes of advanced differentiated thyroid cancer.Cell reports. Medicine · 2026Article
- Review
- Prediction of thyroid nodule properties and potential for malignant metastasis based on tumor pH.Thyroid research · 2026Article
- Clinical Implications and Application of Molecular Testing in the Diagnosis and Management of Thyroid Nodules in the Chinese Population.Clinical cancer research : an official journal of the American Association for Cancer Research · 2025Observational
- Mutational Profiling Detection in FNAC Samples of Different Types of Thyroid Neoplasms Using Targeted NGS.Cancers · 2025Article
- Molecular testing stratifies the risk of structural recurrence in high risk differentiated thyroid cancer: a retrospective cohort study.Frontiers in endocrinology · 2025Article
- Article
- Molecular Diagnosis of Thyroid Nodules Using Next-Generation Sequencing in the Chinese Population.International journal of endocrinology · 2025Article
- Molecular testing raises thyroid nodule fine needle aspiration diagnostic value.Endocrine connections · 2023Article
- Landscape of gene mutation in Chinese thyroid cancer patients: Construction and validation of lymph node metastasis prediction model based on clinical features and gene mutation marker.Cancer medicine · 2023Article
- Article
- Mutational profiling of Chinese patients with thyroid cancer.Frontiers in endocrinology · 2023Article
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Authors and funding
11 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Objective: The data regarding the mutation landscape in Chinese patients with thyroid cancer are limited. The diagnostic performance of thyroid nodules by fine-needle aspiration (FNA) cytology needs optimization, especially in indeterminate nodules. Methods: A total of 1039 FNA and surgical resection samples tested using the targeted multigene next-generation sequencing (NGS) panel were retrospectively collected. The features of gene alterations in different thyroid tumors were analyzed, and the diagnostic efficacy was evaluated. Results: Among 1039 samples, there were 822 FNA and 217 surgical FFPE samples. Among 207 malignant thyroid resections, a total of 181 out of 193 papillary thyroid carcinomas (PTCs) were NGS-positive (93.8%), with a high prevalence of BRAF mutations (81.9%, 158/193) and a low prevalence of RAS (1.0%, 2/193) and TERT promoter mutations (3.6%, 7/193). Gene fusions, involving the RET and NTRK3 genes, were present in 20 PTCs (10.4%) and mutually exclusive with other driver mutations. Two of three follicular thyroid carcinomas harbored multiple mutations. RET gene point mutations were common in medullary thyroid carcinoma (8/11, 72.7%). The combination of cytology and DNA-RNA-based NGS analysis demonstrated superior diagnostic value (98.0%) in FNA samples. For indeterminate thyroid nodules, the diagnostic sensitivity and specificity of NGS testing were 79.2 (38/48) and 80.0% (8/10), respectively. Two mutation-positive benign cases harbored NRAS and TSHR mutations, respectively. Conclusions: Our study revealed the distinct molecular profile of thyroid tumors in the Chinese population. The combination of NGS testing and FNA cytology could facilitate the accurate diagnosis of thyroid nodules, especially for indeterminate nodules.
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