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  • Title: BRAF mutation analysis by ARMS-PCR refines thyroid nodule management.
    Author: Li X, Li E, Du J, Wang J, Zheng B.
    Journal: Clin Endocrinol (Oxf); 2019 Dec; 91(6):834-841. PubMed ID: 31441082.
    Abstract:
    BACKGROUND: Fine-needle aspiration (FNA) of thyroid nodules leads to nearly 25% indeterminate nodules, while BRAFV600E mutation helps to predicting papillary thyroid carcinoma (PTC). However, the clinical validity and utility of the BRAFV600E mutation detected using preoperative FNA samples in a large cohort were rarely reported. AIM: To explore the clinical significance of the BRAFV600E mutation on preoperative diagnosis and decision-making in a large FNA cohort in China. DESIGN: This was a prospective study of BRAFV600E mutation analysis using an amplification refractory mutation system-polymerase chain reaction (ARMS-PCR) in FNA samples. PATIENTS: The study involved 2640 samples from 2307 patients undergoing FNA procedures in a Chinese medical centre. RESULTS: A high mutation rate of 86.7% was found in the PTC population. For indeterminate thyroid nodules, the malignant rate of BRAFV600E+ and BRAFV600E- was 87.8% and 39.5% in the Bethesda System for Reporting Thyroid Cytopathology (BSRTC) III, and 88.2% and 31.8% in the BSRTC IV, respectively. A cost-effective diagnostic model combining both BSRTC grading and BRAFV600E mutation status showed the highest sensitivity of 82.9% and specificity of 85.4%. Central lymph node metastasis (CLNM) was independent of the BRAF mutation status and accounted for 34.2% of the patients with PTC. CT values of BRAFV600E of patients with PTMC were significantly lower in young patients and patients with CLNM. CONCLUSIONS: The combined analysis of cytological results and BRAFV600E mutation is highly recommended in BRAFV600E high-prevalence regions, including China. Prophylactic central neck dissection should be performed in selected patients without regard to the BRAF mutation status.
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