Preoperative molecular markers in thyroid nodules

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

Research output: Contribution to journalReview articlepeer-review


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.

Original languageEnglish (US)
Article number179
JournalFrontiers in Endocrinology
Issue numberAPR
StatePublished - Apr 18 2018


  • Afirma
  • Molecular test
  • Non-invasive follicular thyroid neoplasm with papillary-like nuclear features
  • Thyroid cancer
  • Thyroseq

ASJC Scopus subject areas

  • Endocrinology, Diabetes and Metabolism


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