Proper indication of BRAF(V600E) mutation testing in fine-needle aspirates of thyroid nodules

PLoS One. 2013 May 24;8(5):e64505. doi: 10.1371/journal.pone.0064505. Print 2013.

Abstract

Background: The aim of this study was to evaluate the proper indication of adjunctive BRAF(V600E) mutation analysis at the time of ultrasound-guided fine-needle aspiration in the diagnosis of thyroid nodules.

Methods: This study included 518 nodules in 479 patients who underwent ultrasound-guided fine-needle aspiration with BRAF(V600E) mutation. We calculated and compared the diagnostic performances of cytology and cytology with BRAF(V600E) mutation analysis to detect malignancy among thyroid nodules according to ultrasound features and size.

Results: Sensitivity, negative predictive value, and accuracy of cytology with BRAF(V600E) mutation analysis were significantly higher than those of cytology alone in thyroid nodules with suspicious ultrasound features, regardless of size. Diagnostic performances did not show significant differences between cytology and cytology with BRAF(V600E) mutation analysis in nodules without any suspicious ultrasound features, regardless of size.

Conclusion: The BRAF(V600E) mutation analysis was a useful adjunctive diagnostic tool in the diagnosis of thyroid nodules with suspicious ultrasound features regardless of size.

MeSH terms

  • Adult
  • Endoscopic Ultrasound-Guided Fine Needle Aspiration
  • Humans
  • Middle Aged
  • Mutation*
  • Proto-Oncogene Proteins B-raf / genetics*
  • Reproducibility of Results
  • Sensitivity and Specificity
  • Thyroid Nodule / diagnosis
  • Thyroid Nodule / genetics*
  • Thyroid Nodule / pathology*

Substances

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

Grants and funding

The authors have no support or funding to report.