Association between the BRAF V600E mutation and ultrasound features of the thyroid in thyroid papillary carcinoma

Li, Qian; Yuan, Jianjun; Zhai, Yuanpeng

doi:10.3892/ol.2017.6276

Cited by 8 publications

(8 citation statements)

References 24 publications

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“…Luo et al (25) reported that the BRAFV600E mutation was associated with the features of the nodules on elastography, but not with the features on 2-dimensional ultrasound. Li et al (26) also reported that the BRAFV600E mutation was not associated with the features of 2-dimensional ultrasound (including tumor size, tumor border, or calcification). In the present study, a statistical significant difference was identified between five features of conventional and contrast-enhanced ultrasound, namely, microcalcification, aspect ratio, nodule size following enhancement, enhancement mode and enhancement time, and the BRAFV600E gene mutation status, using univariate logistic regression analysis.…”

Section: Discussionmentioning

confidence: 98%

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

Liu

He²,

Yin

et al. 2019

Oncol Lett

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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.

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Section: Discussionmentioning

confidence: 98%

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

Liu

He²,

Yin

et al. 2019

Oncol Lett

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“…Our results were consistent with their findings, with microcalcification, hypoechogenicity, lobulated margins, and an aspect ratio of greater than 1 being independent risk factors for BRAF mutations. However, it was also shown that BRAF V600E mutations were not associated with tumor size, tumor border, or calcification ( Li et al, 2017 ).…”

Section: Discussionmentioning

confidence: 99%

Construction and validation of BRAF mutation diagnostic model based on ultrasound examination and clinical features of patients with thyroid nodules

Fang

et al. 2022

Front. Genet.

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Introduction: Fine Needle Aspiration (FNA) is currently the most popular method for identifying benign and malignant thyroid nodules. However, its diagnostic sensitivity is sometimes limited, which makes it necessary to apply genetic testing and other modalities as a secondary diagnostic method. The diagnostic accuracy of thyroid nodule can be improved by combining mutations in the B-Raf proto-oncogene serine/threonine kinase (BRAF) with FNA. Thus, this study was conducted to create a nomogram diagnostic model based on the clinical and ultrasonic characteristics of patients with BRAF mutations to aid in the identification of benign and malignant thyroid nodules using FNA.Methods: From April 2018 to December 2021, 275 patients with thyroid nodules who underwent ultrasonography and BRAF gene testing (137 positive and 138 negative) were included from Xianyang Central Hospital. The clinical and ultrasonic characteristics of the patients were used to develop a nomographic, diagnostic model of BRAF gene mutation, and to validate and evaluate the usefulness of the model.Results: Independent risk factors for BRAF mutations included: focal strong echogenicity (microcalcifications, OR = 3.04, 95%CI = 1.41–6.58, p = 0.005), hypoechogenicity (OR = 3.8, 95%CI = 1.14–12.61, p = 0.029), lymph node metastases (OR = 3.54, 95%CI = 1.43–8.75, p = 0.006), margin (lobulated, OR = 3.7, 95%CI = 1.66–8.23, p = 0.001; extrathyroidal invasion, OR = 2.81, 95%CI = 1.11–7.06, p = 0.029), and shape (vertical position, OR = 2.7, 95%CI = 1.11–6.59, p = 0.029). The area under the curve (AUC) of the receiver operating characteristic (ROC) curve of the BRAF mutation diagnostic model constructed on these factors was 0.806 (95% CI = 0.754–0.851), and 39.5% was set as the threshold probability of making a clinical decision. The results of the validation and clinical utility evaluation showed that our model had good predictive performance and clinical application value.Conclusion: Our nomogram diagnostic model based on clinical and ultrasound features of patients accurately predicted the possibility of BRAF gene mutations in patients with thyroid nodules.

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“…The correlations between the presence of BRAF V600E mutations and sonographic findings in PTC are widely described, although there are also a few reports in which such associations were not observed [29,38]. The authors of these reports analyzed the US patterns of BRAF V600E -positive and –negative tumors without any assessment of the PTC variants.…”

Section: Genetic Drivers and Sonographic Pattern Of Different Varimentioning

confidence: 99%

Correlations between Molecular Landscape and Sonographic Image of Different Variants of Papillary Thyroid Carcinoma

Lewiński

Adamczewski

Zygmunt

et al. 2019

JCM

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Papillary thyroid carcinoma (PTC), the most common thyroid cancer, is predominantly driven by mutations in BRAF (primarily p. V600E) and RAS oncogenes. Ultrasound (US) examination provides significant diagnostic data in the management of thyroid nodules, as many sonographic features of thyroid lesions are correlated with the potential risk of thyroid carcinoma. The aim of the study was to analyze the current literature in regard to the potential associations between genetic landscape and sonographic features of PTC. Based on the current literature, sonographic features of PTCs correlate with their molecular drivers, particularly between tumors harboring BRAFV600E versus activating RAS mutations, although many of these findings appear to be dependent on the tumor variant. Suspicious US findings, such as hypoechogenicity, spiculated/microlobulated margins, non-parallel orientation/taller-than-wide shape, and the presence of microcalcifications, are typical for PTC positive for BRAFV600E mutations. On the contrary, tumors with RAS mutations are most frequently hypo- or isoechoic and ovoid-to-round in shape, with smooth margins and without calcifications. There are also some US features typical for PTCs harboring other mutations, including BRAFK601E, RET/PTC rearrangements, PAX8-PPARγ, CTNNB1, and APC. However, further research is necessary, as some rare PTC variants still cannot be reliably analyzed due to the scarce published data.

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Association between the BRAF V600E mutation and ultrasound features of the thyroid in thyroid papillary carcinoma

Cited by 8 publications

References 24 publications

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

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

Construction and validation of BRAF mutation diagnostic model based on ultrasound examination and clinical features of patients with thyroid nodules

Correlations between Molecular Landscape and Sonographic Image of Different Variants of Papillary Thyroid Carcinoma

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