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Next generation sequence-based targeted somatic mutation analysis in thyroid nodules with pathologically diagnosed as
Gizem Kök1, Deniz Nart2, Yeşim Ertan2
1Department of Medical Genetics, Van Educational and Research Hospital, Van, Turkey; Medical Genetics Diagnostic Lab, Department of Medical Genetics, Ege University School of Medicine, İzmir, Turkey.
Pathology, Research and Practice
|September 1, 2024
Summary
Somatic mutation analysis aids in managing indeterminate thyroid nodules. Molecular profiling accurately identified malignancy, potentially avoiding unnecessary repeat fine-needle aspiration (FNA) procedures.
Area of Science:
- Endocrinology
- Oncology
- Molecular Diagnostics
Background:
- Indeterminate thyroid nodules present diagnostic challenges, necessitating methods to differentiate benign from malignant cases.
- Somatic mutation analysis offers a molecular approach to characterize thyroid tumors and guide clinical decisions.
Purpose of the Study:
- To evaluate the utility of somatic mutation analysis in the clinical management of indeterminate thyroid nodules.
- To assess the accuracy of molecular profiling in distinguishing malignant from benign thyroid nodules.
Main Methods:
- Aspiration samples from 20 indeterminate thyroid nodules underwent next-generation sequencing (NGS) for molecular profiling of 67 genes.
- Results were correlated with surgical pathology, the gold standard, and diagnostic performance metrics (sensitivity, specificity, PPV, NPV) were calculated.
Main Results:
- Somatic variants in key genes (NRAS, BRAF, TP53, TERT, PTEN, PIK3CA) were detected in 50% of samples.
- Molecular profiling achieved 60% sensitivity, 80% specificity, 90% positive predictive value, and 40% negative predictive value.
- Nine out of 15 malignant nodules harbored Tier 1 or 2 variants, while one benign nodule had a Tier 2 variant.
Conclusions:
- Somatic mutation analysis demonstrates clinical practicality for managing indeterminate thyroid nodules, potentially guiding treatment without repeat fine-needle aspiration (FNA).
- The study highlights the importance of considering patient age for selecting DNA- or RNA-based genetic testing methods.
- Somatic mutation profiles provide valuable insights that can impact current pathological classifications of thyroid nodules.
