An Effective Approach for BRAF V600E Mutation Analysis of Routine Thyroid Fine Needle Aspirates

Cytopathology ◽  
2021 ◽  
Author(s):  
Tanupriya Agrawal ◽  
Liqiang Xi ◽  
Winnifred Navarro ◽  
Mark Raffeld ◽  
Snehal B. Patel ◽  
...  
Keyword(s):  
Mutation Analysis ◽  
Braf V600e Mutation ◽  
Braf V600e ◽  
Fine Needle ◽  
Fine Needle Aspirates

BRAF V600E as an accurate marker to complement fine needle aspiration (FNA) cytology in the guidance of thyroid surgery in the Chinese population: evidence from over 1000 consecutive FNAs with follow-up

2020 ◽  
Author(s):  
Qunzi Zhao ◽  
Yong Wang ◽  
Qin Ye ◽  
Ping Wang ◽  
Jianyu Rao
Keyword(s):  
Fine Needle Aspiration ◽  
Thyroid Surgery ◽  
Chinese Population ◽  
Thyroid Nodules ◽  
Needle Aspiration ◽  
Braf V600e Mutation ◽  
Braf V600e ◽  
Histopathological Diagnosis ◽  
Fine Needle ◽  
Specificity And Sensitivity

Abstract Background Currently, several commercial molecular tests have been developed for reclassifying thyroid nodules with indeterminate fine needle aspiration cytology. These tests are quite expensive and not available in China. Previous studies demonstrated a very high prevalence of the BRAF V600E mutation in Asian people. A high incidence may result in a robust sensitivity. We conducted this study to determine the prevalence of BRAF V600E mutation and its ability to reclassify cytologically indeterminate thyroid nodules in the Chinese population. Methods Between January 2016 and October 2018, consecutive patients who underwent a fine needle aspiration procedure and agreed to provide materials for molecular analysis in our hospital were recruited in this study. All were followed up until they had a thyroidectomy and a final pathological diagnosis or until January 2019 (those did not have surgery). Results A total of 1960 patients were included in this study. Until January 2019, 1240 patients underwent surgery. Using histopathological diagnosis as a gold standard, the overall sensitivity and specificity of the BRAF V600E mutational analysis for the discrimination of benign nodules from cancer in thyroid fine needle aspiration samples were 83.3% (81.0–85.3%) and 96.0% (77.7–99.8%), respectively, with an area under the ROC curve of 0.90 (95% CI 0.85–0.95, P < 0.001). Among cases with indeterminate cytology, BRAF-positive cases were showing malignancy in the final pathology, and BRAF-negative cases were showing safer to be followed up. Conclusion The BRAF V600E mutation is highly prevalent in the Chinese population and can accurately complement cytopathology in the guidance of thyroid surgery. Mini-abstract: The BRAF V600E mutation has both high specificity and sensitivity to predict thyroid malignancy in the Chinese population. It can accurately complement cytopathology in the guidance of thyroid surgery.

BRAF V600E Mutation Analysis in Papillary Thyroid Carcinomas by Peptide Nucleic Acid Clamp Real-time PCR

2012 ◽  
Vol 20 (3) ◽  
pp. 759-766 ◽  
Author(s):  
Dongjun Jeong ◽  
Yujun Jeong ◽  
Ji Hye Park ◽  
Sun Wook Han ◽  
Sung Yong Kim ◽  
...  
Keyword(s):  
Nucleic Acid ◽  
Real Time ◽  
Mutation Analysis ◽  
Real Time Pcr ◽  
Peptide Nucleic Acid ◽  
Braf V600e Mutation ◽  
Braf V600e ◽  
Papillary Thyroid ◽  
Thyroid Carcinomas

Highly accurate NGS-based multi-gene testing in the diagnosis of thyroid nodules with indeterminate cytology.

2020 ◽  
Vol 38 (15_suppl) ◽  
pp. e13579-e13579
Author(s):  
Yuntao Song ◽  
Bin Zhang ◽  
Tonghui Ma
Keyword(s):  
Next Generation Sequencing ◽  
Mutation Analysis ◽  
Predictive Value ◽  
Thyroid Nodules ◽  
Braf V600e Mutation ◽  
Braf V600e ◽  
Gene Testing ◽  
Indeterminate Cytology ◽  
Next Generation Sequencing Ngs ◽  
Generation Sequencing

e13579 Background: Thyroid nodules are highly prevalent, Fine-needle aspiration (FNA) is the standard pre-operative tool for diagnosis. However, some of the samples are classified as indeterminate, which leads to unnecessary surgery. BRAF V600E mutation is often used as a diagnostic marker for thyroid cancer, and it is highly specific for papillary thyroid carcinoma (PTC). But BRAF mutation is rarely occurred in thyroid nodules with indeterminate cytology. To diagnose the indeterminate thyroid nodules precisely, some NGS-based multi-gene testing panel has been developed and clinically used in America and Europe, but rare research was reported in China. In this study, we evaluated the value of a next-generation sequencing (NGS) panel to cancer diagnosis in indeterminate thyroid nodules. Methods: From February 2018 to September 2018, 360 patients with thyroid nodules who underwent FNA at Peking University Cancer Hospital were enrolled. And the FNA samples with indeterminate cytology were evaluated using a next-generation sequencing (NGS) assay, including 16 genes analyzed for point mutations and 26 types of gene fusions. Diagnostic performance of this multi-gene testing panel was compared with BRAF V600E single gene mutation analysis. Results: 141 nodules were cytologically indeterminate among 360 patients on FNA biopsy, 72 of which were resected and analyzed by NGS successfully. Histologic analysis after surgery revealed 41 (56.9%) cancers in these 72 patients. The multi-gene testing assay could classify 30/41 cancers correctly, showing a sensitivity of 73.2%, specificity of 96.8%, positive predictive value of 96.8%, and negative predictive value of 73.2%. The diagnostic accuracy of the multi-gene testing was significantly higher than the BRAF V600E mutation analysis (83.3% vs 73.6%, x2= 31.588, p < 0.01). Conclusions: Our study demonstrated that the multi-gene testing provided both high sensitivity and high specificity for cancer detection in thyroid nodules with indeterminate cytology, and its accuracy was much higher than BRAF V600E mutation test.

scholarly journals Fine-needle Aspiration Washout Precipitation Specimens: An Acceptable Supplement to Genetic Mutation Detection of Thyroid Nodules

2021 ◽  
Vol 20 ◽  
pp. 153303382110579
Author(s):  
Yongmei Cui ◽  
Xiangqi Huang ◽  
Jinrui Guo ◽  
Nana Zhang ◽  
Jing Liang ◽  
...  
Keyword(s):  
Fine Needle Aspiration ◽  
Thyroid Nodules ◽  
Needle Aspiration ◽  
Braf V600e Mutation ◽  
Braf V600e ◽  
Invasive Technique ◽  
Sample Type ◽  
Mutation Status ◽  
Fine Needle ◽  
Capsule Invasion

Objectives: Thyroid nodules are common in adults, but only some of them are malignant. Ultrasound-guided fine-needle aspiration (FNA) is widely applied as a reliable and minimally invasive technique for evaluating thyroid nodules. However, the scarcity of FNA biopsy specimens poses a challenge to molecular diagnosis. This study aimed to evaluate the feasibility of FNA washout precipitation specimens as an effective supplement to the thyroid genetic test. Methods: A total of 115 patients with thyroid nodules were enrolled in our study. The BRAF V600E mutation status was detected in all FNA washout precipitation specimens and biopsy formalin-fixed paraffin-embedded (FFPE) specimens using an amplification refractory mutation system PCR (ARMS-PCR). All patients underwent cytological diagnoses; 79 patients also underwent surgery for histopathological analysis. Results: All the 115 samples were successfully analyzed using both FNA washout precipitation and biopsy FFPE specimens. The results showed that the BRAF V600E status detected in 96 FNA washout precipitation specimens were consistent with that in FNA biopsy FFPE specimens, including 41 BRAF V600E positive and 55 BRAF V600E negative, achieving a concordance rate of 84.4% (kappa  =  0.689). Furthermore, the BRAF V600E mutation status using FNA washout precipitation specimens provided a 100.0% positive predictive value for diagnosing papillary thyroid carcinoma in patients with The Bethesda system for reporting thyroid cytopathology (TBSRTC) V. Besides, the BRAF V600E mutation status was positive in 90.9% (10/11) FNA washout precipitation specimens from patients with capsule invasion, achieving a higher overall sensitivity of 100.0%, compared with 57.1% of FNA washout precipitation specimens from patients without capsule invasion. Conclusion: These results suggested that FNA washout precipitation specimens might be a valuable supplementary sample type for detecting the BRAF V600E mutation in patients with thyroid nodules, especially with thyroid capsule invasion.

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