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BRAFV600E mutation testing in fine needle aspirates of thyroid nodules: potential value of real-time PCR

 Jin Young Kwak  ;  Kyung Hwa Han  ;  Jung Hyun Yoon  ;  Eun-Kyung Kim  ;  Hee Jung Moon  ;  Yoo-Li Kim  ;  Seo-Jin Park  ;  Jong Rak Choi 
 Annals of Clinical and Laboratory Science, Vol.42(3) : 258-265, 2012 
Journal Title
 Annals of Clinical and Laboratory Science 
Issue Date
The BRAF(V600E) mutation is a valuable adjunctive diagnostic tool to ultrasound (US)-guided fine-needle aspiration (US-FNA). The objective of this study was to investigate the potential value of realtime PCR to detect BRAF(V600E) mutation. This study included 447 thyroid nodules in 420 patients who underwent US-FNA and BRAF(V600E) mutation analysis using dual priming oligonucleotide-based multiplex polymerase chain reaction (DPO-PCR) and real-time PCR. We calculated and compared the diagnostic performances of DPO-PCR and real-time PCR to detect BRAF(V600E) mutation in the thyroid nodules. Receiver operating characteristic (ROC) analysis was used to quantify the cut-off value of the Ct values of BRAF(V600E) mutation on real-time PCR. Optimal thresholds were determined (Youden index). We also compared the diagnostic performances between DPO-PCR and real-time PCR after applying the cut-off value on real-time PCR. Sensitivity, accuracy, and NPV were significantly higher in real-time PCR than DPO-PCR. When the optimal cut-off value of 32.4 at Ct values of BRAF(V600E) mutation was adjusted on real-time PCR, sensitivity was 66.2% and specificity was 100%. Sensitivity, accuracy, and NPV of real-time PCR were also significantly higher than DPO-PCR. In contrast, specificity and PPV were not significantly different between DPO-PCR and real-time PCR. Real time PCR can be a promising diagnostic method in detecting BRAF(V600E) mutation using optimal cut-off value.
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1. Journal Papers (연구논문) > 1. College of Medicine (의과대학) > Dept. of Laboratory Medicine (진단검사의학교실)
1. Journal Papers (연구논문) > 1. College of Medicine (의과대학) > Yonsei Biomedical Research Center (연세의생명연구원)
1. Journal Papers (연구논문) > 1. College of Medicine (의과대학) > Dept. of Radiology (영상의학교실)
Yonsei Authors
곽진영(Kwak, Jin Young)
김은경(Kim, Eun-Kyung) ORCID logo https://orcid.org/0000-0002-3368-5013
문희정(Moon, Hee Jung) ORCID logo https://orcid.org/0000-0002-5643-5885
박서진(Park, Seo Jin)
최종락(Choi, Jong Rak)
한경화(Han, Kyung Hwa)
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