A total of 4347 patients with papillary thyroid cancer were evaluated in the study and 283 patients had both BRAFv600E and TERT promoter mutations. A BRAFv600E mutation alone was related to advanced age at time of diagnosis, advanced cancer stage, extrathyroidal extension of tumor, and spread to lymph nodes, compared with no mutation. A TERT promoter mutation alone was associated with older age at diagnoses, spread to lymph node and spread outside of the neck. The combination of BRAFv600E and TERT promoter mutations together when compared with no mutations was associated with older age at diagnosis, male gender, advanced cancer staging, extrathyroidal extension, spread to lymph node and spread outside of the neck.
Overall, the combination of BRAF600E and TERT mutations was associated with high recurrence rate when compared with no mutations. Further, it was noted that the combination of mutations also had a higher risk of death than no mutations or BRAFv600E alone, although few patients were in this group.
WHAT ARE THE IMPLICATIONS OF THIS STUDY?
This study shows that molecular marker analysis can be used to identify patients that have more aggressive thyroid cancer. The combination of BRAFv600E and TERT promotor mutations worsens the prognosis for papillary thyroid cancer. Additionally, a limited data set suggested higher risk of death with the combination of BRAF600E and TERT promoter mutations.
As we improve our understanding of the molecular changes in thyroid cancer, we will improve our ability to identify patients that have a more aggressive thyroid cancer. Ultimately this knowledge will lead to improved treatment options. Future studies must aim to determine if identifying these mutations at the time of diagnosis can lead to improved outcomes for patients at higher risk.
— Julie Hallanger Johnson, MD
ATA THYROID BROCHURE LINKS
Thyroid Cancer (Papillary and Follicular): https://www. thyroid.org/thyroid-cancer/