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Updated: Apr 6, 2026
Employing Digital Droplet PCR to Detect BRAF V600E Mutations in Formalin-fixed Paraffin-embedded Reference Standard Cell Lines
Published on: October 8, 2015
Initial clinical experience with BRAF(V600E) mutation analysis of core-needle biopsy specimens from thyroid nodules
Sang Hyun Choi1, Jung Hwan Baek1, Jeong Hyun Lee1
1Department of Radiology and the Research Institute of Radiology, University of Ulsan College of Medicine, Asan Medical Center, Songpa-Gu, Seoul, Korea.
Objective:
The accurate diagnosis of thyroid nodules is important for making management decisions. The purpose of this study was to evaluate the feasibility of core-needle biopsy with BRAF(V600E) mutation analysis (CNB + BRAF(V600E) ) and to compare the clinical usefulness of CNB + BRAF(V600E) and fine-needle aspiration with BRAF(V600E) mutation analysis (FNA + BRAF(V600E) ) in the diagnosis of thyroid malignancy.
Design, Patients And Measurements:
The results of BRAF(V600E) mutation analyses of 820 nodules from 820 patients (153 men, 667 women; mean age, 51·1 years), who underwent CNB + BRAF(V600E) (n = 256) or FNA + BRAF(V600E) (n = 564) between January 2011 and March 2012 were retrospectively evaluated. The feasibility of CNB + BRAF(V600E) was assessed by comparing its rate of detection of BRAF(V600E) mutations and positive predictive value with those of FNA + BRAF(V600E) . The clinical usefulness of CNB + BRAF(V600E) was determined by comparing rates of inconclusive results, the additional value of BRAF(V600E) mutation analysis, diagnostic surgery and diagnostic performance with those of FNA + BRAF(V600E) .
Results:
CNB + BRAF(V600E) and FNA + BRAF(V600E) had similar rates of BRAF(V600E) mutation detection (66·3% vs 64·4%, P = 0·883) and positive predictive value (100·0% vs 96·6%, P = 0·135). CNB + BRAF(V600E) had a significantly higher diagnostic accuracy rate (95·7% vs 85·9%, P < 0·001), and significantly lower rates of inconclusive results (8·2% vs 51·8%, P < 0·001), and diagnostic surgery (8·9% vs 22·3%, P = 0·006), than FNA + BRAF(V600E) .
Conclusions:
The greater diagnostic performance of CNB + BRAF(V600E) and its lower rate of inconclusive results than FNA + BRAF(V600E) suggest that CNB + BRAF(V600E) can reduce rates of preventable diagnostic surgery.
