Molecular Diagnostics for Thyroid Nodules

Outcome of thyroid gene expression classifier testing in clinical practice

“…Although this group reports high‐volume cytological interpretation experience and a rate of indeterminate readings consistent with the medical literature, the prevalence of malignancy among their indeterminate cases is largely unknown. For this reason, it has been questioned whether the NPV of a TCP indeterminate GEC benign result will be similar to the 95% and 94% rates published in the validation trial by Alexander et al for AUS/FLUS and FN/SFN, respectively.…”

“…The Afirma gene expression classifier (GEC) (Veracyte Inc., South San Francisco, CA) represents a “rule out” approach to the cytologically indeterminate thyroid nodule based on its high sensitivity (if sensitivity is high, a negative test is very likely to represent a true lack of disease) and high negative predictive value (NPV) (the fraction of all benign results that are correct). Many of the studies involving Afirma are from academic centers, whereas some are industry sponsored; thus, a call for real‐world experience has been recommended …”

Diagnostic performance of HMGA2 gene expression for differentiation of malignant thyroid nodules: A systematic review and meta‐analysis

“…Thus, most thyroid cancers now have known gene driver events and advanced molecular tests are available for routine clinical practice . However, molecular testing for single gene mutation does not provide high negative predictive value (NPV) to avoid surgery for mutation‐negative nodules because thyroid cancers are driven by various mutations . Likely, although several gene expressions have been suggested as molecular markers for thyroid cancers, expression of single gene for differentiation between benign and malignant thyroid nodules are widely overlapped in many cases .…”

Proteome analysis in thyroid pathology

“…They range from gene mutations, amplifications and copy-number gains, translocations and, most recently, hypermethylation. All these play a pivotal role in the tumorigenesis and development of the neoplasm, and some of them have been proposed to be used in the diagnostic setting [26,37,38]. The prevalence of such mutations differs among the numerous histotypes of thyroid cancer, suggesting a different pathogenic pathway of growth.…”