Value of <i>BRAF</i> V600E in High-Risk Thyroid Nodules with Benign Cytology Results

Chen, X.; Zhou, Qi; Wang, F.; Zhang, F.; Du, Hong; Zhang, Q.; Wu, Weizhu; Gong, Xiaomeng

doi:10.3174/ajnr.a5898

Cited by 16 publications

(17 citation statements)

References 27 publications

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“…The sensitivity of BRAF V600E mutation analysis has been proven to be so high for PTC, that even if benign cytology with positive BRAF V600E mutation were reported, more aggressive management should still be considered [ 52 ]. Consequently, some authors recommend, that fine-needle aspiration should be routinely accompanied by the BRAF V600E mutation test in high-risk thyroid nodules with ≥2 suspicious ultrasound features [ 53 ]. As postulated by Zhang et al [ 37 ], EU-TIRADS could be used as the preliminary evaluation method to select high-risk lesions for FNAB, while BSRTC and BRAF V600E mutation analysis should be adopted to refine the diagnosis, as an increased level of EU-TIRADS classification was significantly associated with the rising mutation rate of BRAF V600E in each BSRTC category.…”

Section: Discussionmentioning

confidence: 99%

Higher EU-TIRADS-Score Correlated with BRAF V600E Positivity in the Early Stage of Papillary Thyroid Carcinoma

Skubisz

Januszkiewicz-Caulier

Cybula

et al. 2021

JCM

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The data demonstrating a correlation between sonographic markers of malignancy of thyroid cancer (TC) and its genetic status are scarce. This study aimed to assess whether the addition of genetic analysis at the preoperative step of TC patients’ stratification could aid their clinical management. The material consisted of formalin-fixed paraffin-embedded tumor fragments of 49 patients who underwent thyroidectomy during the early stages of papillary TC (PTC). Tumor DNA and RNA were subjected to next-generation sequencing (NGS) on Ion Proton using the Oncomine™ Comprehensive Assay panel. We observed a significant correlation between BRAF V600E and a higher EU-TIRADS score (p-value = 0.02) with a correlation between hypoechogenicity and taller-than-wide tumor shape in analysed patients. There were no other significant associations between the identified genetic variants and other clinicopathological features. For TC patient’s stratification, a strong suspicion of BRAF V600E negativity in preoperative management of TC patients could limit the over-treatment of asymptomatic, very low-risk, indolent disease and leave room for active surveillance.

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Section: Discussionmentioning

confidence: 99%

Higher EU-TIRADS-Score Correlated with BRAF V600E Positivity in the Early Stage of Papillary Thyroid Carcinoma

Skubisz

Januszkiewicz-Caulier

Cybula

et al. 2021

JCM

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“…Kim et al reported six false-positive results in 126 specimens and, among them, BRAF V600E was also detected by using pyrosequencing in four cases [17]. Chen et al reported five false-positive results in 292 specimens [18]. RET/PTC was also highly predictive for PTC (100%) and classic PTC (>82%).…”

Section: Discussionmentioning

confidence: 99%

Highly Sensitive and Specific Molecular Test for Mutations in the Diagnosis of Thyroid Nodules: A Prospective Study of BRAF-Prevalent Population

Cho

Park

Shin

et al. 2020

IJMS

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Molecular testing offers more objective information in the diagnosis and personalized decision making for thyroid nodules. In Korea, as the BRAF V600E mutation is detected in 70–80% of thyroid cancer specimens, its testing in fine-needle aspiration (FNA) cytology specimens alone has been used for the differential diagnosis of thyroid nodules until now. Thus, we aimed to develop a mutation panel to detect not only BRAF V600E, but also other common genetic alterations in thyroid cancer and to evaluate the diagnostic accuracy of the mutation panel for thyroid nodules in Korea. For this prospective study, FNA specimens of 430 nodules were obtained from patients who underwent thyroid surgery for thyroid nodules. A molecular test was devised using real-time PCR to detect common genetic alterations in thyroid cancer, including BRAF, N-, H-, and K-RAS mutations and rearrangements of RET/PTC and PAX8/PPARr. Positive results for the mutation panel were confirmed by sequencing. Among the 430 FNA specimens, genetic alterations were detected in 293 cases (68%). BRAF V600E (240 of 347 cases, 69%) was the most prevalent mutation in thyroid cancer. The RAS mutation was most prevalently detected for indeterminate cytology. Among the 293 mutation-positive cases, 287 (98%) were diagnosed as cancer. The combination of molecular testing and cytology improved sensitivity from 72% (cytology alone) to 89% (combination), with a specificity of 93%. We verified the excellent diagnostic performance of the mutation panel applicable for clinical practice in Korea. A plan has been devised to validate its performance using independent FNA specimens.

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“…Moreover, the number of suspicious US features can predict the malignancy of thyroid nodules that had benign FNA results but were pathologically proven to be malignant [28]. In our research, suspicious US features with unde ned boundary and microcalci cation can be suggestive of malignancy, therefore BRAF V600E gene detection is necessary for these thyroid nodules with above malignant features, even if the cytological results were benign.…”

Section: Discussionmentioning

confidence: 63%

Thyroid Nodules with Preoperative Benign Cytology and BRAF V600E Mutations: the Role of Conventional Ultrasound and Shear Wave Elastography

Zhang

et al. 2020

Preprint

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Objectives: Ultrasound-guided fine-needle aspiration (FNA) is the most accurate and economical means for the differential diagnosis of thyroid nodules, but false negative results also existed. This study aimed to predict the false negative results of FNA, reduce the missed diagnosis and improve the current management strategy of thyroid nodules. Methods: A total of 1232 consecutive patients with thyroid nodules who received FNA and BRAF V600E detection were adopted. All patients received both CUS (conventional ultrasound) and SWE (shear wave elastography) examinations and characteristics of these thyroid nodules were analyzed to evaluated the diagnostic performances of risk factors for malignancy.Results: Finally, 26 nodules with benign cytology and BRAF V600E mutations were enrolled. Undefined boundary, microcalcification and E max ratio > 1.49 were risk factors for malignancy (P<0.05), and the area under the receiver operating curve (ROC) of above CUS features and elastic value were 0.817 (95% CI: 0.617, 0.940), 0.792 (95% CI: 0.588, 0.925) and 0.792 (95% CI: 0.617, 0.940) respectively. The sensitivity, specificity, positive predictive value (PPV), negative predictive value (NPV) and accuracy were 80.0%, 83.3%, 94.1%, 55.6% and 80.7% for undefined boundary, 75.0%, 83.3%, 93.8%, 50.0% and 76.9% for microcalcification and 75.0%, 83.3%, 93.8%, 50.0% and 76.9% for E max ratio > 1.49 respectively. There was no difference between benign and malignant nodules in the patient age, sex and nodule sizes (P>0.05).Conclusions: Undefined boundary, microcalcification and E max ratio > 1.49 were risk factors for malignancy in benign cytology nodules. When FNA results were benign but above characteristics could be found in the thyroid nodules with BRAF V600E mutation, further clinical decisions should be carried out to reduce the missed diagnosis.

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Value of BRAF V600E in High-Risk Thyroid Nodules with Benign Cytology Results

Cited by 16 publications

References 27 publications

Higher EU-TIRADS-Score Correlated with BRAF V600E Positivity in the Early Stage of Papillary Thyroid Carcinoma

Higher EU-TIRADS-Score Correlated with BRAF V600E Positivity in the Early Stage of Papillary Thyroid Carcinoma

Highly Sensitive and Specific Molecular Test for Mutations in the Diagnosis of Thyroid Nodules: A Prospective Study of BRAF-Prevalent Population

Thyroid Nodules with Preoperative Benign Cytology and BRAF V600E Mutations: the Role of Conventional Ultrasound and Shear Wave Elastography

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