scholarly journals Comparison of the Clinical Validity of Droplet Digital PCR to ARMS‐PCR for BRAF V600E Mutation Detection in Thyroid Nodules

2020 ◽  
Vol 34 (11) ◽  
Author(s):  
Xiubo Li ◽  
Hong Du ◽  
Jingyan Luo ◽  
Wenshuang Ding ◽  
Bingquan Lai ◽  
...  
Keyword(s):  
Thyroid Nodules ◽  
Mutation Detection ◽  
Digital Pcr ◽  
Droplet Digital Pcr ◽  
Braf V600e Mutation ◽  
Braf V600e ◽  
Clinical Validity ◽  
Arms Pcr

Interlaboratory assessment of droplet digital PCR for quantification of BRAF V600E mutation using a novel DNA reference material

Talanta ◽  
2020 ◽  
Vol 207 ◽  
pp. 120293 ◽  
Author(s):  
Lianhua Dong ◽  
Xia Wang ◽  
Shangjun Wang ◽  
Meihong Du ◽  
Chunyan Niu ◽  
...  
Keyword(s):  
Reference Material ◽  
Digital Pcr ◽  
Droplet Digital Pcr ◽  
Braf V600e Mutation ◽  
Braf V600e

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.

scholarly journals Droplet Digital PCR for Mutation Detection in Formalin-Fixed, Paraffin-Embedded Melanoma Tissues

2018 ◽  
Vol 20 (2) ◽  
pp. 240-252 ◽  
Author(s):  
Ashleigh C. McEvoy ◽  
Benjamin A. Wood ◽  
Nima M. Ardakani ◽  
Michelle R. Pereira ◽  
Robert Pearce ◽  
...  
Keyword(s):  
Mutation Detection ◽  
Digital Pcr ◽  
Droplet Digital Pcr ◽  
Formalin Fixed Paraffin ◽  
Formalin Fixed Paraffin Embedded ◽  
Formalin Fixed

Direct comparison study between droplet digital PCR and a combination of allele-specific PCR, asymmetric rapid PCR and melting curve analysis for the detection of BRAF V600E mutation in plasma from melanoma patients

2020 ◽  
Vol 58 (11) ◽  
pp. 1799-1807 ◽  
Author(s):  
Eleni Tzanikou ◽  
Verena Haselmann ◽  
Athina Markou ◽  
Angelika Duda ◽  
Jochen Utikal ◽  
...  
Keyword(s):  
Melting Curve ◽  
Digital Pcr ◽  
Droplet Digital Pcr ◽  
Curve Analysis ◽  
Response To Therapy ◽  
Braf V600e ◽  
Melting Curve Analysis ◽  
Comparison Study ◽  
Rapid Pcr ◽  
Melanoma Patients

AbstractBackgroundIn metastatic melanoma, 40%–50% of patients harbor a BRAF V600E mutation and are thereby eligible to receive a combined BRAF/MEK inhibitor therapy. Compared to standard-of-care tissue-based genetic testing, analysis of circulating tumor DNA (ctDNA) from blood enables a comprehensive assessment of tumor mutational status in real-time and can be used for monitoring response to therapy. The aim of our study was to directly compare the performance of two highly sensitive methodologies, droplet digital PCR (ddPCR) and a combination of ARMS/asymmetric-rapid PCR/melting curve analysis, for the detection of BRAF V600E in plasma from melanoma patients.MethodsCell-free DNA (cfDNA) was isolated from 120 plasma samples of stage I to IV melanoma patients. Identical plasma-cfDNA samples were subjected to BRAF V600E mutational analysis using in parallel, ddPCR and the combination of ARMS/asymmetric-rapid PCR/melting curve analysis.ResultsBRAF V600E mutation was detected in 9/117 (7.7%) ctDNA samples by ddPCR and in 22/117 (18.8%) ctDNA samples by the combination of ARMS/asymmetric- rapid PCR/melting curve analysis. The concordance between these two methodologies was 85.5% (100/117). The comparison of plasma-ctDNA analysis using ddPCR and tissue testing revealed an overall agreement of 79.4% (27/34), while the corresponding agreement using the combination of ARMS/asymmetric-rapid PCR/melting curve analysis was 73.5% (25/34). Moreover, comparing the detection of BRAF-mutant ctDNA with the clinics, overall agreement of 87.2% (48/55) for ddPCR and 79.2% (42/53) was demonstrated. Remarkably, the duration of sample storage was negatively correlated with correctness of genotyping results highlighting the importance of pre-analytical factors.ConclusionsOur direct comparison study has shown a high level of concordance between ddPCR and the combination of ARMS/asymmetric-rapid PCR/melting curve analysis for the detection of BRAF V600E mutations in plasma.

Tumor heterogeneity: Evidence from BRAF V600E mutation detection

2008 ◽  
Vol 26 (15_suppl) ◽  
pp. 20022-20022 ◽  
Author(s):  
A. J. Litterman ◽  
D. Pollens ◽  
M. A. Warycha ◽  
R. L. Shapiro ◽  
R. S. Berman ◽  
...  
Keyword(s):  
Tumor Heterogeneity ◽  
Mutation Detection ◽  
Braf V600e Mutation ◽  
Braf V600e
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