Molecular testing in diagnosis of indeterminate thyroid cytology: Trends and drivers

Abstract

Fine needle aspiration (FNA), the cornerstone of diagnosis in thyroid swellings, fails to render a definitive diagnosis in about 20% to 30% of cases that are reported as indeterminate on cytology. Since the clinical management in thyroid rests on the risk of malignancy (ROM) in a given nodule, this distinction between "benign" and "possibly malignant" assumes paramount clinical importance. Over the last two decades, tremendous progress has been achieved in our understanding of the molecular basis of thyroid pathologies leading to identification of several genetic alterations that could potentially be exploited for diagnostic, prognostic and therapeutic purposes. An array of molecular tests has hit the markets aiming to predict the ROM in thyroid nodules. A deeper understanding of the strengths and limitations of these tests is imperative to be able to judiciously choose the right molecular test in a given case for maximum clinical benefit. This narrative review provides an overview of current status of molecular testing in the evaluation of thyroid nodules encompassing the current status and applications of these tests in diagnostic, prognostic and therapeutic areas along with a brief insight into the future developments in this field.

Keywords: aspiration cytology; gene expression classifier; indeterminate; miRNA; molecular testing; next generation sequencing; thyroid.