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

Ann Clin Lab Sci. 2012 Summer;42(3):258-65.

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • 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

Substances

  • BRAF protein, human
  • Proto-Oncogene Proteins B-raf