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”, 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 to 100%, 5 to 53%, 13 to 100%, and 20 to 100%, respectively. Among Thyroseq® V2 studies, Se, Sp, PPV, and NPV ranged from 40 to 100%, 56 to 93%, 13 to 90%, and 48 to 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.
Highlights
Thyroid nodules are common among adults over the age of 60 years, with a prevalence of 50–70%(1, 2)
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”, 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
Fine needle aspiration (FNA) to facilitate this distinction first became widely practiced in the early 1980s [6], and is widely recognized as the gold standard initial diagnostic procedure in the differential diagnosis of thyroid nodules, being accurate, safe, and cost effective [7, 8]
Summary
Specialty section: This article was submitted to Thyroid Endocrinology, a section of the journal
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