Clinical diagnostic gene expression thyroid testing

Otolaryngol Clin North Am. 2014 Aug;47(4):573-93. doi: 10.1016/j.otc.2014.04.009.

Abstract

Thyroid fine-needle aspiration biopsies are cytologically indeterminate in 15% to 30% of cases. When cytologically indeterminate thyroid nodules undergo diagnostic surgery, approximately three-quarters prove to be histologically benign. A negative predictive value of more than or equal to 94% for the Afirma Gene Expression Classifier (GEC) is achieved for indeterminate nodules. Most Afirma GEC benign nodules can be clinically observed, as suggested by the National Comprehensive Cancer Network Thyroid Carcinoma Guideline. More than half of the benign nodules with indeterminate cytology (Bethesda categories III/IV) can be identified as GEC benign and removed from the surgical pool to prevent unnecessary diagnostic surgery.

Keywords: Biopsy; DNA mutational analysis; Fine-needle aspirate; Gene expression; Genomics; Molecular diagnostic techniques; Thyroid nodule.

Publication types

  • Review

MeSH terms

  • Biopsy, Fine-Needle
  • Cytodiagnosis / methods
  • DNA Mutational Analysis
  • Gene Expression Profiling / classification
  • Gene Expression Profiling / methods*
  • Gene Expression Regulation, Neoplastic
  • Humans
  • Immunohistochemistry
  • Sensitivity and Specificity
  • Thyroid Gland / pathology
  • Thyroid Nodule / diagnosis*
  • Thyroid Nodule / genetics*
  • Thyroid Nodule / pathology
  • Thyroidectomy / economics