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Published on: September 8, 2021
The BRAF(V600E) mutation is associated with malignant ultrasonographic features in thyroid nodules
Eun Jung Lee1, Kee-Ho Song, Dong-Lim Kim
1Division of Endocrinology and Metabolism, Department of Internal Medicine, Konkuk University School of Medicine, Seoul, Korea.
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.
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