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Observational Study
. 2019 Mar-Apr;63(2):107-112.
doi: 10.20945/2359-3997000000116. Epub 2019 Mar 21.

Preoperative detection of TERT promoter and BRAFV600E mutations in papillary thyroid carcinoma in high-risk thyroid nodules

Tatiana Marina Vieira Giorgenon  1 , Fabiane Tavares Carrijo  2   3 , Maurício Alamos Arruda  2 , Taíse Lima Oliveira Cerqueira  2 , Haiara Ramos Barreto  2 , Juliana Brandão Cabral  4 , Thiago Magalhães da Silva  5 , Patrícia Künzle Ribeiro Magalhães  1 , Léa Maria Zanini Maciel  1 , Helton Estrela Ramos  2   3   4
Affiliations
Observational Study

Preoperative detection of TERT promoter and BRAFV600E mutations in papillary thyroid carcinoma in high-risk thyroid nodules

Tatiana Marina Vieira Giorgenon et al. Arch Endocrinol Metab. 2019 Mar-Apr.

Abstract

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 BRAFV600E 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 BRAFV600E and pTERT mutations.

Results: 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.

Conclusions: 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.

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Conflict of interest statement

Disclosure: no potential conflict of interest relevant to this article was reported.

Figures

Figure 1
Figure 1. Relationship between age at PTC diagnosis and mutation status.
See this image and copyright information in PMC

Comment in

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