Abstract
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 BRAFV600E mutation. 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 BRAFV600E and pTERT mutations. We found coexistence of pTERTC228T and BRAFV600E mutations in 8.9% (4/45) of thyroid nodules. All nodules positive for pTERT mutations were BRAFV600E positives. There was a significant association between pTERTC228T/BRAFV600E with older age and advanced stage compared with the group negative for either mutation. This series provides evidence that FNA is a reliable method for preoperative diagnosis of high-risk thyroid nodules. pTERTC228T/BRAFV600E 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.
Highlights
Papillary thyroid cancer (PTC) risk stratification and prognostication has been normally placed on clinicopathologic aspects, which are usually unreliable and presurgically nonexistent [1]
We investigated the feasibility of combined BRAFV600E/ promoter mutations (pTERT) mutations testing on routine fine-needle aspiration (FNA) specimens and its prognostic value in US guide biopsied of high suspicious thyroid nodules
The BRAFV600E and pTERT mutations were found in a frequency of 66.7% and 8.9%, respectively
Summary
Papillary thyroid cancer (PTC) risk stratification and prognostication has been normally placed on clinicopathologic aspects, which are usually unreliable and presurgically nonexistent [1]. The role of BRAFV600Emutation test in bettering the preoperative premonition of thyroid nodules US guided fine-needle aspiration (FNA) is dubious in terms of the prognostic accuracy of BRAFV600E mutations in PTC [5,6]. Three studies preoperatively investigated pTERT mutations in PTC patients and proposed that the awareness of the mutation status might guide the amplitude of initial surgery [9,10,11].
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