Molecular Diagnosis of Thyroid Nodules and Its Future Implications for the Management of Thyroid Cancer

Abstract

Molecular testing in thyroid nodules and thyroid cancer is rapidly evolving; care must be used when incorporating molecular testing for thyroid nodules into clinical practice. A clear appreciation of the goals and restraints of molecular testing must be integrated into how physicians use and explain molecular testing to patients. Molecular tests can help rule in cancer for indeterminate thyroid nodules with very specific mutations for thyroid cancer, such as BRAF and RET/PTC, and can help reduce the rates of completion thyroidectomies in this era of de-escalation of the management of thyroid disease. The positive predictive value (PPV) of malignant cytology (Bethesda VI) is 98%; and even though molecular testing improves specificity and PPV, it falls short of this ideal for other mutations. We present a detailed evaluation of the current state of molecular testing and their clinical relevance in the setting of diagnostic utility and their impact on surgical decision-making. By recapitulating the clinical impact of these tests and some of the related drawbacks, we hope to provide adequate up to date information of the appropriate utilization of these tools in the management of indeterminate or suspicious thyroid nodules and highlight future directions on their utilization for the management of thyroid cancer.