Purpose of review: The aim of this article is to provide an update on the status of the clinical application of thyroid cancer biomarkers.
Recent findings: Our understanding of the tumor cell biology of thyroid cancer of follicular cell origin has improved and modern genomic technological tools are providing new data that may have clinical ramifications. The common somatic genetic changes in thyroid cancer of follicular cell origin (RET/PTC, NTRK, RAS, BRAF, PAX8-PPARgamma) are generally mutually exclusive, with distinct genotype-histologic subtype of thyroid cancer and genotype-phenotype associations observed. Mutation analysis in thyroid nodule fine needle aspiration biopsy has been applied to improve the diagnostic accuracy of fine needle aspiration biopsy and cytologic examination. Gene expression profiling studies have identified numerous diagnostic biomarkers of thyroid cancer that are beginning to be applied in fine needle aspiration biopsy samples to improve diagnosis. The BRAF mutation has recently been shown to be associated with disease aggressiveness, and as an independent prognostic biomarker.
Summary: There has been significant progress toward identifying biomarkers that could improve the accuracy of fine needle aspiration biopsy in the evaluation of patients with thyroid nodule and predicting disease aggressiveness. Future clinical trials evaluating the accuracy and cost-effectiveness of applying these biomarkers in the management of thyroid neoplasm should be considered.