Association analysis and the clinical significance of BRAF gene mutations and ultrasound features in papillary thyroid carcinoma

Oncol Lett. 2019 Sep;18(3):2995-3002. doi: 10.3892/ol.2019.10641. Epub 2019 Jul 22.

Abstract

The aim of the present study was to evaluate the associations between the B-Raf proto-oncogene serine/threonine kinase (BRAF)V600E mutation and conventional and contrast-enhanced ultrasonographic features in patients with papillary thyroid carcinoma (PTC), and to subsequently investigate the clinical value of these associations. In total, 207 thyroid nodules (diameter ≤2 cm) were selected. Conventional ultrasound, contrast-enhanced ultrasound, BRAFV600E mutational analysis and ultrasound-guided fine-needle aspiration biopsy were preoperatively performed, and histopathological assessment of PTC was postoperatively confirmed. The nodules were divided into 2 groups based on the BRAFV600E mutational analysis, namely the mutant or the wild-type variant groups, and the association analyses of the ultrasonographic features between these 2 groups were performed. Overall, 74.9% (155/207) of the PTC nodules had the BRAFV600E mutation, while 25.1% (52/207) had the wild-type BRAF allele. The 2 groups were analyzed using univariate logistic regression analysis, which demonstrated no significant differences regarding morphology, boundary, hypoechogenicity of the nodules, blood flow signal, enhancement uniformity, enhancement degree and clearance time (P>0.05). Moreover, the 2 groups demonstrated significant differences regarding the aspect ratio, microcalcification, nodule size following enhancement, enhancement mode and enhancement time (P<0.05). A multivariate logistic regression analysis was performed to further validate the association of these features with the BRAFV600E mutation; however, only microcalcification [odds ratio (OR), 2.256; 95% confidence interval (CI), 1.160-5.500; P=0.020] and nodule size following enhancement (OR, 2.119; 95% CI, 1.039-4.321; P=0.039) were associated with the BRAF mutational status. The associations found between the two ultrasonographic features and BRAFV600E mutation indicate that they can predict the BRAF mutational status to provide a reliable basis for clinical diagnosis and treatment.

Keywords: BRAFV600E mutation; contrast-enhanced ultrasound; papillary thyroid carcinoma; two-dimensional ultrasound.