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A Swin Transformer-Based Model for Thyroid Nodule Detection in Ultrasound Images
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Molecular testing raises thyroid nodule fine needle aspiration diagnostic value.
Dongyan Han1, Ding Min2, Rongli Xie3
1D Han, Department of pathology, Tongji University, Shanghai, China.
Endocrine Connections
|June 13, 2023
Summary
Molecular testing improves thyroid nodule diagnosis when fine needle aspiration biopsy (FNAB) is indeterminate. This 18-gene test identified key mutations, aiding in predicting malignancy and guiding treatment strategies.
Area of Science:
- Endocrinology
- Oncology
- Molecular Diagnostics
Background:
- Thyroid fine needle aspiration biopsy (FNAB) has limitations, with 16%-24% of cases yielding indeterminate results.
- Molecular testing offers a potential solution to enhance the diagnostic accuracy of FNAB for thyroid nodules.
Purpose of the Study:
- To investigate the gene mutation profile in patients with thyroid nodules.
- To assess the diagnostic performance of a novel 18-gene molecular test for thyroid nodules.
Main Methods:
- Analysis of 513 thyroid samples (414 FNABs, 99 FFPE) using a self-developed 18-gene molecular test.
- Calculation of diagnostic metrics including sensitivity, specificity, positive predictive value, negative predictive value, and accuracy.
Main Results:
- Detected 457 mutations in 428 samples, with BRAF mutations being the most frequent (73.3%).
- Evaluated diagnostic ability in Bethesda II and V-VI samples, showing improved accuracy with molecular testing compared to cytology alone.
- In Bethesda III-IV nodules, pathogenic mutations alone yielded a sensitivity of 76.2% and specificity of 66.7%.
Conclusions:
- Molecular testing, particularly an 18-gene panel, can significantly improve the diagnostic accuracy of indeterminate thyroid nodules.
- Understanding the molecular mechanisms at the genetic level is crucial for accurate malignancy prediction and developing tailored management strategies.
