Journal
BIOMEDICINES
Volume 10, Issue 5, Pages -Publisher
MDPI
DOI: 10.3390/biomedicines10050954
Keywords
thyroid nodule; thyroid cancer; ACR-TIRADS; FNAC; molecular testing; fusions; BRAF; TERT; RAS
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Funding
- Ministry of Health, Czech Republic-conceptual development of research organization (Institute of Endocrinology-EU) [00023761]
- project AZV [NU21-01-00448]
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The study aimed to investigate the potential for improving thyroid cancer detection in routine clinical settings using clinical examination, ACR TI-RADS, and FNAC along with molecular diagnostics. The results showed that genetic mutations, FNAC, and ACR TI-RADS were significant predictors of malignancy. FNA molecular testing has the potential to improve the detection of thyroid malignancy and enhance our treatment approaches.
The aim of our study was to address the potential for improvements in thyroid cancer detection in routine clinical settings using a clinical examination, the American College of Radiology Thyroid Imaging Reporting and Database System (ACR TI-RADS), and fine-needle aspiration cytology (FNAC) concurrently with molecular diagnostics. A prospective cohort study was performed on 178 patients. DNA from FNA samples was used for next-generation sequencing to identify mutations in the genes BRAF, HRAS, KRAS, NRAS, and TERT. RNA was used for real-time PCR to detect fusion genes. The strongest relevant positive predictors for malignancy were the presence of genetic mutations (p < 0.01), followed by FNAC (p < 0.01) and ACR TI-RADS (p < 0.01). Overall, FNAC, ACR TI-RADS, and genetic testing reached a sensitivity of up to 96.1% and a specificity of 88.3%, with a diagnostic odds ratio (DOR) of 183.6. Sensitivity, specificity, and DOR decreased to 75.0%, 88.9%, and 24.0, respectively, for indeterminate (Bethesda III, IV) FNAC results. FNA molecular testing has substantial potential for thyroid malignancy detection and could lead to improvements in our approaches to patients. However, clinical examination, ACR TI-RADS, and FNAC remained relevant factors.
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