ArticleThe Journal of clinical endocrinology and metabolism2021
Afirma Genomic Sequencing Classifier and Xpression Atlas Molecular Findings in Consecutive Bethesda III-VI Thyroid Nodules.
Article in The Journal of clinical endocrinology and metabolism, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 32 papers, 3 of them syntheses that pooled it.
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Who cites it
32 citing papers in PubMed, 3 syntheses or guidelines pooled it.
- Integration of AI-driven ultrasound and molecular testing to improve diagnosis of indeterminate thyroid nodules.Frontiers in endocrinology · 2026Pooled it
- Comparing the diagnostic accuracy of Afirma GSC to ThyroSeq V3 in cytologically indeterminate thyroid nodules.European thyroid journal · 2025Pooled it
- Real-World Performance of the Afirma Genomic Sequencing Classifier (GSC)-A Meta-analysis.The Journal of clinical endocrinology and metabolism · 2023Pooled it
- Molecular Diagnostics and [Thyroid : official journal of the American Thyroid Association · 2024Trial
- Development of Novel mRNA Classifiers to Stratify Preoperative Thyroid Tumor Risk.Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck Surgery · 2026Article
- The Molecular Heterogeneity of NRAS Variants in Thyroid Nodules.Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck Surgery · 2026Article
- Afirma genomic sequencing classifier performance in young patients with cytologically indeterminate thyroid nodules.The Journal of clinical endocrinology and metabolism · 2026Article
- Analysis of PLEKHS1 promoter mutation in preoperative thyroid nodule samples.Cancer cytopathology · 2026Article
- Article
- Comprehensive Proteomics and Machine Learning Analysis to Distinguish Follicular Adenoma and Follicular Thyroid Carcinoma from Indeterminate Thyroid Nodules.Endocrinology and metabolism (Seoul, Korea) · 2025Article
- The diagnostic challenges of medullary thyroid carcinoma: A practical guide for cytopathologists.Cancer cytopathology · 2025Review
- SERPINA1 methylation as a novel diagnostic marker for early-stage papillary thyroid carcinoma via MAPK6-AKT/mTOR pathway.Clinical epigenetics · 2025Article
- Molecular testing stratifies the risk of structural recurrence in high risk differentiated thyroid cancer: a retrospective cohort study.Frontiers in endocrinology · 2025Article
- Ultrasound radiomics and genomics improve the diagnosis of cytologically indeterminate thyroid nodules.Frontiers in endocrinology · 2025Review
- Histopathology of C Cells and Medullary Thyroid Carcinoma.Recent results in cancer research. Fortschritte der Krebsforschung. Progres dans les recherches sur le cancer · 2025Review
- Development and validation of mRNA expression-based classifiers to predict low-risk thyroid tumors.Frontiers in endocrinology · 2025Article
- Thyroid nodules: diagnosis and management.Nature reviews. Endocrinology · 2024Review
- Detection of RAS p.Q61R by Immunohistochemistry in Practice: A Clinicopathologic Study of 217 Thyroid Nodules with Molecular Correlates.Endocrine pathology · 2024Article
- Indolent Behavior of Malignant Bethesda III Nodules Compared to Bethesda V/VI Nodules.The Journal of clinical endocrinology and metabolism · 2024Article
- Next-Generation-Sequencing on fine needle aspirates in neck recurrence of thyroid cancers.European thyroid journal · 2024Article
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16 authors.
Funding
Abstract
contextBroad genomic analyses among thyroid histologies have been described from relatively small cohorts.
objectiveInvestigate the molecular findings across a large, real-world cohort of thyroid fine-needle aspiration (FNA) samples.
designRetrospective analysis of RNA sequencing data files.
settingClinical Laboratory Improvement Amendments laboratory performing Afirma Genomic Sequencing Classifier (GSC) and Xpression Atlas (XA) testing.
participantsA total of 50 644 consecutive Bethesda III-VI nodules.
interventionNone.
main outcome measuresMolecular test results.
resultsOf 48 952 Bethesda III/IV FNAs studied, 66% were benign by Afirma GSC. The prevalence of BRAF V600E was 2% among all Bethesda III/IV FNAs and 76% among Bethesda VI FNAs. Fusions involving NTRK, RET, BRAF, and ALK were most prevalent in Bethesda V (10%), and 130 different gene partners were identified. Among small consecutive Bethesda III/IV sample cohorts with one of these fusions and available surgical pathology excision data, the positive predictive value of an NTRK or RET fusion for carcinoma or noninvasive follicular thyroid neoplasm with papillary-like nuclear features was >95%, whereas for BRAF and ALK fusions it was 81% and 67%, respectively. At least 1 genomic alteration was identified by the expanded Afirma XA panel in 70% of medullary thyroid carcinoma classifier-positive FNAs, 44% of Bethesda III or IV Afirma GSC suspicious FNAs, 64% of Bethesda V FNAs, and 87% of Bethesda VI FNAs.
conclusionsThis large study demonstrates that almost one-half of Bethesda III/IV Afirma GSC suspicious and most Bethesda V/VI nodules had at least 1 genomic variant or fusion identified, which may optimize personalized treatment decisions.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.