The BRAFV600E mutation is associated with malignant ultrasonographic features in thyroid nodules

Context Several ultrasonographic (US) features of thyroid nodules have been reported to predict malignancy. The BRAF(V600E) mutation is a useful diagnostic marker for differentiating papillary thyroid carcinoma from benign thyroid nodules, especially in BRAF(V600E)-prevalent populations such as in Korea. Objective To evaluate the association of BRAF(V600E) mutation with US features of thyroid nodules in predicting the malignancy of thyroid nodules in Korean patients. Design A total of 991 thyroid nodules from 823 patients in fine-needle aspiration biopsy (FNAB) specimens were investigated. The relationship between US features and the presence of BRAF(V600E) mutation by pyrosequencing method was prospectively analysed. Results The BRAF(V600E) mutation was associated with the following US features: solid composition [odds ratio (OR) 20.338; 95% confidence interval (CI): 4.952-83.532; P < 0 001], marked hypoechogenicity (OR 30.744; 95% CI: 15.951-59.255; P < 0 001), irregular margin (OR 9.889; 95% CI: 7.005-13.859; P < 0.001), taller- than-wide shape (OR 6.031; 95% CI: 4.343-8.376; P < 0.001) and the presence of microcalcifications (OR 6.664; 95% CI: 4.604-9.648; P < 0.001). The BRAF(V600E) mutation with malignant US features in FNAB enhanced the diagnostic accuracy compared with cytologic diagnosis alone (94.3% vs 69.7%). Conclusion The BRAF(V600E) mutation is significantly associated with malignant US features, such as solid composition, marked hypoechogenicity, irregular margin, taller-than-wide shape and the presence of microcalcifications. The application of BRAF(V600E) mutation analysis in US-guided FNAB can improve the diagnostic accuracy of thyroid nodules.