Oral Presentation ESA-SRB-APEG-NZSE 2022

Molecular Profiling of Thyroid Cancer: Current and Future Developments (#115)

Roderick Clifton-Bligh 1 , Martyn Bullock 1
  1. Cancer Genetic Laboratory, Kolling Institute, St Leonards, NSW, Australia

Historically, clinicopathologic risk assessment of thyroid cancer (TC) has often been inaccurate, and the overtreatment of inherently low-risk TC and under-treatment of potentially aggressive TC commonplace. However, our knowledge of the molecular makeup of TC, and the genetic determinants of tumorigenesis and progression, has grown considerably over the past decade. This has heralded in a new era of molecular-based risk stratification, based upon the presence/absence of informative cancer mutations, which can more precisely guide clinical management. To date, the most extensively validated TC biomarker is BRAFV600E, which while never being present in benign disease, is detected in about two-thirds of all TC. BRAFV600E is associated with more aggressive disease and is clearly associated with locoregional recurrence, but not with distant metastases or death independently from other clinicopathological risk factors (1-2). More recently, TERT promoter mutations (TPMs) have also be shown of predictive value, occurring with increasing frequency in progressively worsening prognostic TC subtypes (3); and within relatively indolent differentiated TCs, to be correlated with adverse prognostic features such as older age, larger tumour size and male gender (4) Furthermore, several studies have found an interaction between the presence of TPMs and BRAFV600E in predicting recurrence (4). This talk will provide current overview of these and other promising biomarkers, where the field is currently, and the exciting developments that are on the horizon; including novel approaches beyond tumor DNA sequencing, such as transcriptomics, epigenomics and immunophenotyping. We will also review current and potential applications of liquid biopsy-based biomarkers, such as circulating tumor cells and circulating nucleic acids, a new modality which is transforming oncology.

  1. Xing M, Alzahrani AS, Carson KA, et al. Association between BRAF V600E mutation and mortality in patients with papillary thyroid cancer. JAMA 2013;309:1493-1501.
  2. O'Neill CJ, Bullock M, Chou A, et al. BRAF(V600E) mutation is associated with an increased risk of nodal recurrence requiring reoperative surgery in patients with papillary thyroid cancer. Surgery 2010;148:1139-1145.
  3. Landa I, Ganly I, Chan TA, Mitsutake N, Matsuse M, Ibrahimpasic T, Ghossein RA, Fagin JA. Frequent somatic TERT promoter mutations in thyroid cancer: higher prevalence in advanced forms of the disease. J Clin Endocrinol Metab. 2013 Sep;98(9):E1562-6.
  4. Bullock M, Ren Y, O'Neill C, et al. TERT promoter mutations are a major indicator of recurrence and death due to papillary thyroid carcinomas. Clin Endocrinol. 2016;85:283-290.