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

Authors
 Jin Young Kwak  ;  Kyung Hwa Han  ;  Jung Hyun Yoon  ;  Eun-Kyung Kim  ;  Hee Jung Moon  ;  Yoo-Li Kim  ;  Seo-Jin Park  ;  Jong Rak Choi 
Citation
 ANNALS OF CLINICAL AND LABORATORY SCIENCE, Vol.42(3) : 258-265, 2012 
Journal Title
ANNALS OF CLINICAL AND LABORATORY SCIENCE
ISSN
 0091-7370 
Issue Date
2012
MeSH
Adolescent ; Adult ; Aged ; Amino Acid Substitution/genetics* ; Biopsy, Fine-Needle ; DNA Mutational Analysis ; Female ; Humans ; Male ; Middle Aged ; Mutation/genetics* ; Proto-Oncogene Proteins B-raf/genetics* ; ROC Curve ; Real-Time Polymerase Chain Reaction/methods* ; Thyroid Gland/pathology* ; Thyroid Nodule/genetics* ; Thyroid Nodule/pathology* ; Thyroid Nodule/surgery ; Young Adult
Keywords
real-time PCR ; DPO-PCR ; BRAF ; papillary thyroid cancer
Abstract
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.
Full Text
http://www.annclinlabsci.org/content/42/3/258.long
DOI
22964613
Appears in Collections:
1. College of Medicine (의과대학) > Research Institute (부설연구소) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Laboratory Medicine (진단검사의학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Radiology (영상의학교실) > 1. Journal Papers
Yonsei Authors
Kwak, Jin Young(곽진영) ORCID logo https://orcid.org/0000-0002-6212-1495
Kim, Eun-Kyung(김은경) ORCID logo https://orcid.org/0000-0002-3368-5013
Moon, Hee Jung(문희정) ORCID logo https://orcid.org/0000-0002-5643-5885
Park, Seo Jin(박서진)
Choi, Jong Rak(최종락) ORCID logo https://orcid.org/0000-0002-0608-2989
Han, Kyung Hwa(한경화)
URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/89490
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