Molecular Profiling of 50 734 Bethesda III-VI Thyroid Nodules by ThyroSeq v3: Implications for Personalized Management
Authors' conclusion
In this series, 68% of BCIII-IV nodules were classified as negative by ThyroSeq, potentially preventing diagnostic surgery in this subset of patients. Specific genetic alterations were detected in most BCV-VI nodules, with a higher prevalence of BRAF and TERT mutations and targetable gene fusions compared to BCIII-IV nodules, offering prognostic and therapeutic information for patient management.
Study context
- Population
- Fine needle aspiration (FNA) samples of Bethesda III–VI thyroid nodules tested by ThyroSeq v3 at UPMC Molecular and Genomic Pathology laboratory50,734 nodules
- Participants
- 48,225 participants
- Outcome
- Prevalence of clinically relevant (diagnostic, prognostic, targetable) molecular alterations in BCIII-VI thyroid nodules
Methodological detailssingle-laboratory, ThyroSeq v3 Genomic Classifier and Cancer Risk Classifier
- Single-laboratory
- ThyroSeq v3 Genomic Classifier and Cancer Risk Classifier
Main finding
As reported in the abstract
ThyroSeq v3 results among informative FNA samples
- Test-negative
- 65.3%
- Positive
- 33.9%
- Positive for medullary carcinoma
- 0.2%
- Positive for parathyroid
- 0.6%
- Benign call rate in BCIII-IV nodules
- 68%
- Among test-positive: mutations
- 73.3%
- Among test-positive: gene fusions
- 11.3%
- Among test-positive: isolated copy number alterations
- 10.8%
- High-risk profile (typically TERT or TP53 mutations), more frequently BCV-VI
- 6%
Observational data: associations, not effects.
Further findings
RNA-Seq confirmation of ThyroSeq-detected novel receptor tyrosine kinases (RTK) fusions
- Confirmed
- 98.9%
Original publication
Molecular Profiling of 50 734 Bethesda III-VI Thyroid Nodules by ThyroSeq v3: Implications for Personalized Management. J Clin Endocrinol Metab. Published 18 April 2023. doi:10.
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