Genetic-guided Risk Assessment and Management of Thyroid Cancer

Endocrinol Metab Clin North Am. 2019 Mar;48(1):109-124. doi: 10.1016/j.ecl.2018.11.007.

Abstract

Controversies exist on how to optimally manage thyroid cancer because the prognosis is often uncertain based on clinical backgrounds. This can now be helped with prognostic genetic markers in thyroid cancer, exemplified by BRAF V600E and TERT promoter mutations, which have been well characterized and widely appreciated. The genetic duet of BRAF V600E/RAS and TERT promoter mutations is a most robust prognostic genetic pattern for poor prognosis of differentiated thyroid cancer. The high negative predictive values of the prognostic genetic markers are equally valuable. The best prognostic value of genetic markers in thyroid cancer is achieved through a clinical risk level-based and genotype-individualized manner.

Keywords: BRAF V600E mutation; Genetic molecular marker; Prognosis; RAS mutation; Risk stratification; TERT promoter Mutation; Thyroid cancer.

Publication types

  • Research Support, N.I.H., Extramural
  • Review

MeSH terms

  • Biomarkers, Tumor*
  • Humans
  • Risk Assessment*
  • Thyroid Neoplasms / diagnosis*
  • Thyroid Neoplasms / genetics*

Substances

  • Biomarkers, Tumor