Clinical Implication of Highly Sensitive Detection of the BRAFV600E Mutation in Fine-Needle Aspirations According to the Thyroid Bethesda System in Patients With Conventional Papillary Thyroid Carcinoma

Ann Otol Rhinol Laryngol. 2015 May;124(5):392-9. doi: 10.1177/0003489414560433. Epub 2014 Nov 17.

Abstract

Background: We investigated the additional diagnostic yield of the mutation test and evaluated the frequency of the BRAF mutation in conventional PTC (cPTC) according to ultrasound (US) features and the Bethesda System for Reporting Thyroid Cytopathology (BSRTC) based on the BRAFV600E mutation status.

Materials and methods: During the study period, 279 patients who underwent FNA with an additional BRAFV600E mutation test were diagnosed as cPTC after surgery. We analyzed the association between the mutation and several clinical factors.

Results: Of the 279 cPTCs, 250 (89.6%) had the BRAFV600E mutation. The BRAF mutation test was helpful in diagnosing an additional 19% (53/279) of cPTCs. The frequency of the BRAF mutation in cPTCs with suspicious US features was higher than that of cPTCs with negative US features regardless of the BSRTC.

Conclusions: Suspicious US features may be helpful in deciding whether an additional BRAFV600E mutation test should be done in thyroid nodules with indeterminate cytology.

Keywords: biopsy; cytology; fine-needle; mutation; papillary; proto-oncogene proteins BRAF; thyroid cancer.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Biopsy, Fine-Needle
  • Carcinoma / genetics*
  • Carcinoma / metabolism
  • Carcinoma / pathology
  • Carcinoma, Papillary
  • DNA Mutational Analysis
  • DNA, Neoplasm / genetics*
  • Female
  • Humans
  • Male
  • Middle Aged
  • Mutation*
  • Proto-Oncogene Mas
  • Proto-Oncogene Proteins B-raf / genetics*
  • Proto-Oncogene Proteins B-raf / metabolism
  • Real-Time Polymerase Chain Reaction
  • Reproducibility of Results
  • Retrospective Studies
  • Thyroid Cancer, Papillary
  • Thyroid Neoplasms / genetics*
  • Thyroid Neoplasms / metabolism
  • Thyroid Neoplasms / pathology
  • Young Adult

Substances

  • DNA, Neoplasm
  • MAS1 protein, human
  • Proto-Oncogene Mas
  • BRAF protein, human
  • Proto-Oncogene Proteins B-raf