AUTHOR=Sahli Zeyad T. , Smith Philip W. , Umbricht Christopher B. , Zeiger Martha A. 

TITLE=Preoperative Molecular Markers in Thyroid Nodules

JOURNAL=Frontiers in Endocrinology

VOLUME=Volume 9 - 2018

YEAR=2018

URL=https://www.frontiersin.org/journals/endocrinology/articles/10.3389/fendo.2018.00179

DOI=10.3389/fendo.2018.00179

ISSN=1664-2392

ABSTRACT=The need for distinguishing benign from malignant thyroid nodules has led to the pursuit of differentiating molecular markers. The most common molecular tests in clinical use are Afirma® Gene Expression Classifier (GEC) and Thyroseq® V2. Despite the rapidly developing field of molecular markers, several limitations exist. These challenges include the recent introduction of the histopathological diagnosis ‘Non-Invasive Follicular Thyroid neoplasm with Papillary-like nuclear features’ (NIFTP), the correlation of genetic mutations within both benign and malignant pathologic diagnoses, the lack of follow-up of molecular marker negative nodules, and the cost-effectiveness of molecular markers. In this manuscript, we review the current published literature surrounding the diagnostic value of Afirma® GEC and Thyroseq® V2. Among Afirma® GEC studies, sensitivity (Se), specificity (Sp), positive predictive value (PPV), and negative predictive value (NPV) ranged from 75% – 100%, 5 – 53%, 13 – 100%, and 20 – 100%, respectively. Among Thyroseq® V2 studies, Se, Sp, PPV, and NPV ranged from 40% – 100%, 56% – 93%, 13% – 90%, and 48% – 97%, respectively. We also discuss current challenges to Afirma® GEC and Thyroseq® V2 utility and clinical application, and preview the future directions of these rapidly developing technologies.