BRAF^V600E mutation test on fine‐needle aspiration specimens of thyroid nodules: Clinical correlations for 4600 patients

Abstract

Background:The BRAF V600E mutation is valuable for the diagnosis, prognosis, and therapy of papillary thyroid cancer (PTC). However, studies related to this mutation have involved only a small number of patients. Therefore, we performed a large-scale analysis from a single institute to evaluate the accuracy of combined fine-needle aspiration (FNA) and BRAF V600E mutation tests for PTC diagnosis.Methods: A total of 4600 patients with thyroid nodules who underwent both FNA cytology and BRAF V600E mutation analysis on FNA specimens were enrolled. The association between the BRAF V600E mutation and clinicopathological features was analyzed. A separate analysis was performed for the 311 patients who underwent repeated FNA for comparison of cytological evaluation and BRAF V600E mutation results. The diagnostic efficacy of the BRAF V600E mutation test and cytologic diagnoses was evaluated for 516 patients who underwent preoperative FNA tests in comparison with conclusive postoperative histopathologic results. Results:The cytology results of all 4600 FNA samples were categorized according to The Bethesda System for Reporting Thyroid Cytology (TBSRTC) stages I-VI, which accounted for 11.76%, 60.02%, 6.46%, 3.61%, 6.71%, and 11.43% of the samples, respectively. The BRAF V600E mutation was detected in 762 (16.57%) FNA samples, with rates of 1.48%, 0.87%, 20.20%, 3.01%, 66.02%, and 87.81% for TBSRTC I-VI lesions, respectively. Among the 311 repeat FNA cases, 81.0% of the BRAF V600E -positive and 4.3% of the BRAF V600E -negative specimens with an initial indication of cytological non-malignancy were ultimately diagnosed as malignant by repeat FNA (p < 0.001). Among the 516 patients who underwent thyroidectomy, the sensitivity and specificity of the BRAF V600E mutation test alone for PTC diagnosis were 76.71% and 100.0%, respectively, which increased to 96.62% and 88.03%, respectively, when combining the BRAF V600E mutation test with cytology. BRAF V600E mutation was significantly associated with lymph node metastasis (p < 0.001), but not with age, gender, or tumor size.

Significance of FNAC, BRAF mutation, and intraoperative frozen section in surgical decision‐making of thyroid nodules

“…The accuracy of cytological diagnosis remarkably depends on the experience of the pathologists and the sample quality, while BRAF V600E analysis only needs an appropriate sample and standardized test method. It is reported that the sensitivity of FNA-BRAF V600E mutation test varies from 32% to 82%, 26 which is less than that in our study. The reasons for this may be ethnic differences mentioned above and other non-classical PTC subtypes which seldom carry BRAF mutation.…”

A Clinical Predictive Model of Central Lymph Node Metastases in Papillary Thyroid Carcinoma

“…BRAF genetic test was valuable for the diagnosis, prognosis, and therapy of PTC ( 19 ). In addition, some scholars revealed that BRAF mutations were associated with markers of clinical aggressiveness such as larger tumors, lymph node metastases, and poor clinical outcomes ( 20 ).…”

The Accurate Interpretation and Clinical Significance of Morphological Features of Fine Needle Aspiration Cells in Papillary Thyroid Carcinoma

“…Therefore, we advocate that LBP slides and conventional smears should be applied together, combined and complementary to each other. In addition, we evaluated the gene detection of the same group of cases and found that the sensitivity was 78.34%, which was slightly higher than that reported (76.71%) in the literature [ 19 ]. At the same time, it also suggests that gene detection cannot solve all PTC cases.…”