Molecular testing in fine-needle aspiration of thyroid nodules

Diagn Cytopathol. 2023 Jan;51(1):36-50. doi: 10.1002/dc.25035. Epub 2022 Aug 11.

Abstract

Background: Thyroid nodules are commonly faced by clinicians as palpable nodules or incidentally identified on imaging. Nodules that are found to be suspicious by imaging can be biopsied by fine needle aspiration, which can yield material for molecular testing to refine the diagnosis.

Methods: The current literature concerning molecular testing in thyroid nodules including available commercial assays was reviewed and summarized.

Results/conclusions: Commonly encountered alterations include mutations in RAS, BRAF, TERT promoter, PTEN, and DICER1 as well as fusions of RET, ALK, PAX8-PPARγ, and NTRK. This article provides a summary of these molecular alterations, commercially available molecular assays, and general considerations for thyroid epithelial malignancies and benign thyroid nodules.

Keywords: cytology; fine needle aspiration; indeterminate nodules; molecular testing; thyroid.

MeSH terms

  • Biopsy, Fine-Needle
  • DEAD-box RNA Helicases
  • Humans
  • Molecular Diagnostic Techniques
  • Ribonuclease III
  • Thyroid Nodule* / diagnosis
  • Thyroid Nodule* / genetics

Substances

  • DICER1 protein, human
  • Ribonuclease III
  • DEAD-box RNA Helicases