Background: Accurate preoperative assessment of thyroid nodules with fine-needle aspiration biopsy (FNAB) continues to be a challenge, often resulting in unnecessary diagnostic surgical intervention. The detection of several novel gene mutations in differentiated thyroid cancer (DTC) over the last decade has led to the diagnostic use of these oncogenic alterations to improve FNAB sensitivity and specificity.
Methods and results: Thyroid oncogene mutations including BRAF, RAS, and RET/PTC are reviewed. The potential benefit of using this panel on fine-needle aspiration (FNA) cytology samples will be described.
Conclusion: Our use of ''reflexive'' molecular testing demonstrates its clinical value in conjunction with FNAB cytology, representing an application of personalized molecular medicine to guide appropriate surgical therapy.
Keywords: biomarkers; diagnosis; molecular testing; prognosis; thyroid.
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