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

Research output: Contribution to journalArticlepeer-review

16 Citations (Scopus)


The BRAFV600E 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 BRAFV600E mutation. This study included 447 thyroid nodules in 420 patients who underwent US-FNA and BRAFV600E 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 BRAFV600E mutation in the thyroid nodules. Receiver operating characteristic (ROC) analysis was used to quantify the cut-off value of the Ct values of BRAFV600E 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 BRAFV600E 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 BRAFV600E mutation using optimal cut-off value.

Original languageEnglish
Pages (from-to)258-265
Number of pages8
JournalAnnals of Clinical and Laboratory Science
Issue number3
Publication statusPublished - 2012

All Science Journal Classification (ASJC) codes

  • Microbiology
  • Immunology and Allergy
  • Pathology and Forensic Medicine
  • Immunology
  • Molecular Biology
  • Hematology
  • Clinical Biochemistry
  • Medical Laboratory Technology


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