Preoperative detection of TERT promoter and BRAF(V600E) mutations in papillary thyroid carcinoma in high-risk thyroid nodules

OBJECTIVES: This observational study analyzed telomerase reverse transcriptase (pTERT) mutations in 45 fine-needle aspiration (FNA) specimens obtained from thyroid nodules followed by postoperatively confirmation of papillary thyroid cancer (PTC) diagnosis, examining their relationship with clinicopathologic aspects and the BRAF(V600E) mutation. SUBJECTS AND METHODS: Clinical information was collected from patients who presented to Ribeirao Preto University Hospital for surgical consultation regarding a thyroid nodule and who underwent molecular testing between January 2010 to October 2012. Tests included a DNA-based somatic detection of BRAF(V600E) and pTERT mutations. RESULTS: We found coexistence of pTERT(C228T) and BRAF(V600E) mutations in 8.9% (4/45) of thyroid nodules. All nodules positive for pTERT mutations were BRAF(V600E) positives. There was a significant association between pTERT(C228T)/BRAF(V600E) with older age and advanced stage compared with the group negative for either mutation. CONCLUSIONS: This series provides evidence that FNA is a reliable method for preoperative diagnosis of high-risk thyroid nodules. pTERT(C228T)/BRAF(V600E) mutations could be a marker of poor prognosis. Its use as a personalized molecular medicine tool to individualize treatment decisions and follow-up design needs to be further studied.