Utility of BRAF mutation detection in fine-needle aspiration biopsy samples read as "suspicious for papillary thyroid carcinoma"

Head Neck. 2015 Dec;37(12):1788-93. doi: 10.1002/hed.23829. Epub 2014 Sep 25.

Abstract

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.

Keywords: BRAF mutation; fine-needle aspiration biopsy; molecular marker testing; papillary thyroid carcinoma; suspicious for papillary carcinoma.

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Biomarkers, Tumor / genetics*
  • Biopsy, Fine-Needle / methods
  • Carcinoma / economics
  • Carcinoma / epidemiology
  • Carcinoma / genetics*
  • Carcinoma / pathology*
  • Carcinoma / surgery
  • Carcinoma, Papillary
  • Child
  • Female
  • Humans
  • Male
  • Maryland / epidemiology
  • Michigan / epidemiology
  • Middle Aged
  • Mutation*
  • Predictive Value of Tests
  • Proto-Oncogene Proteins B-raf / genetics*
  • Retrospective Studies
  • Sensitivity and Specificity
  • Thyroid Cancer, Papillary
  • Thyroid Neoplasms / economics
  • Thyroid Neoplasms / epidemiology
  • Thyroid Neoplasms / genetics*
  • Thyroid Neoplasms / pathology*
  • Thyroid Neoplasms / surgery
  • Thyroid Nodule / economics
  • Thyroid Nodule / genetics*
  • Thyroid Nodule / pathology*
  • Thyroid Nodule / surgery
  • Thyroidectomy / methods

Substances

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