Extending expressed RNA genomics from surgical decision making for cytologically indeterminate thyroid nodules to targeting therapies for metastatic thyroid cancer

Abstract

The Afirma Genomic Sequencing Classifier (GSC) is a rule‐out test for malignancy/noninvasive follicular thyroid neoplasms with papillary‐like nuclear features among patients with Bethesda category III/IV nodules, whereas the complimentary Xpression Atlas provides genomic insights from a curated panel of 511 genes among GSC suspicious and Bethesda category V/VI nodules. Together, they facilitate personalized treatment decisions based on genomic insights derived from the transcriptome of the biopsied target and extend the diagnostic and therapeutic reach of cytopathologists and fine‐needle aspiration biopsy sample collection.

Keywords: clinical validation; indeterminate cytology; machine learning; molecular diagnostics; thyroid nodule.

Figure 1

Clinical use flow diagram of the Afirma Genomic Sequencing Classifier (GSC) and Xpression Atlas (XA) in (A) thyroid nodules and (B) thyroid cancer warranting systemic therapy. *Malignancy classifiers include the medullary thyroid cancer classifier, BRAF V600E classifier, parathyroid classifier, and RET/PTC1 plus RET/PTC3 fusion detection. †Malignancy classifiers are included with XA. FNA indicates fine‐needle aspiration.

Figure 2

Clinical experience with the Afirma Genomic Sequencing Classifier (GSC) from multiple centers. Unoperated GSC benign nodules were counted as true‐negative results. Unoperated GSC suspicious nodules were excluded. Data were obtained from Harrell et al,59 Ahmed et al,68 Endo et al,69 San Martin et al,70 Livhits et al,71 and Angell et al.72