Related Experiment Video For BRAF mutation
Updated: Apr 27, 2026
Employing Digital Droplet PCR to Detect BRAF V600E Mutations in Formalin-fixed Paraffin-embedded Reference Standard Cell Lines
Published on: October 8, 2015
Utility of BRAF mutation detection in fine-needle aspiration biopsy samples read as "suspicious for papillary thyroid
Sebastian M Jara1, Ramneesh Bhatnagar2,3, Hui Guan2,4
1Division of Head and Neck Endocrine Surgery, Department of Otolaryngology Head and Neck Surgery, Johns Hopkins University, School of Medicine, Baltimore, Maryland.
Background:
The purpose of this study was to evaluate the diagnostic utility of BRAF mutation testing on thyroid nodules "suspicious for papillary thyroid carcinoma" (PTC) cytology.
Methods:
A chart review of patients with fine-needle aspiration (FNA) results "suspicious for PTC" with subsequent thyroidectomy was performed. Corresponding archived FNA slides underwent BRAF mutation testing.
Results:
Sixty-six patients with FNA "suspicious for PTC" underwent thyroidectomy. Forty-two (63.6%) had PTC diagnosed on final histopathology, whereas 21 (31.8%) had benign findings. Thirty-five patients (83%) with histologically proven PTC underwent total thyroidectomy, whereas 7 (17%) underwent hemithyroidectomy. BRAF mutation was detected in 17 of 49 samples (34.6%) available for testing and had 45.5% sensitivity, 87.5% specificity, 88.2% positive predictive value (PPV), and 43.8% negative predictive value (NPV) for diagnosing PTC. Two of 4 patients (50%) who underwent hemithyroidectomy with subsequent completion thyroidectomy had mutated BRAF detected.
Conclusion:
BRAF testing is a useful adjunct to improve PPV for patients with "suspicious for PTC" cytology.
