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

Cancer Cytopathol. 2019 Jun;127(6):362-369. doi: 10.1002/cncy.22132. Epub 2019 Apr 24.

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.

MeSH terms

  • Adenocarcinoma, Follicular / diagnosis*
  • Adenocarcinoma, Follicular / genetics
  • Adenocarcinoma, Follicular / pathology
  • Adenocarcinoma, Follicular / therapy
  • Biomarkers, Tumor / analysis
  • Biomarkers, Tumor / genetics
  • Biopsy, Fine-Needle
  • Clinical Decision-Making / methods
  • Diagnosis, Differential
  • Feasibility Studies
  • Gene Expression Regulation, Neoplastic
  • Humans
  • Machine Learning
  • Precision Medicine / methods
  • RNA, Messenger / isolation & purification
  • RNA, Messenger / metabolism
  • RNA, Neoplasm / isolation & purification
  • RNA, Neoplasm / metabolism
  • RNA-Seq / instrumentation
  • RNA-Seq / methods*
  • Reagent Kits, Diagnostic
  • Thyroid Cancer, Papillary / diagnosis*
  • Thyroid Cancer, Papillary / genetics
  • Thyroid Cancer, Papillary / pathology
  • Thyroid Cancer, Papillary / therapy
  • Thyroid Gland / pathology
  • Thyroid Gland / surgery
  • Thyroid Neoplasms / diagnosis*
  • Thyroid Neoplasms / genetics
  • Thyroid Neoplasms / pathology
  • Thyroid Neoplasms / therapy
  • Thyroid Nodule / diagnosis*
  • Thyroid Nodule / genetics
  • Thyroid Nodule / pathology
  • Thyroid Nodule / therapy
  • Thyroidectomy / adverse effects
  • Thyroidectomy / methods

Substances

  • Biomarkers, Tumor
  • RNA, Messenger
  • RNA, Neoplasm
  • Reagent Kits, Diagnostic

Supplementary concepts

  • Thyroid cancer, follicular