Giorgenon Tatiana Marina Vieira, Carrijo Fabiane Tavares, Arruda Maurício Alamos, Cerqueira Taíse Lima Oliveira, Barreto Haiara Ramos, Cabral Juliana Brandão, Silva Thiago Magalhães da, Magalhães Patrícia Künzle Ribeiro, Maciel Léa Maria Zanini, Ramos Helton Estrela
Departamento de Medicina Interna, Faculdade de Medicina de Ribeirão Preto da Universidade de São Paulo (FMRP-USP), Ribeirão Preto, SP, Brasil.
Departamento de Biorregulação, Laboratório de Estudo da Tireoide, Instituto de Ciências da Saúde, Universidade Federal da Bahia (UFBA), Salvador, BA, Brasil.
Arch Endocrinol Metab. 2019 Mar-Apr;63(2):107-112. doi: 10.20945/2359-3997000000116. Epub 2019 Mar 21.
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.
本观察性研究分析了45例甲状腺结节细针穿刺（FNA）标本中的端粒酶逆转录酶（pTERT）突变情况，这些标本随后经术后确诊为甲状腺乳头状癌（PTC），并研究了它们与临床病理特征及BRAFV600E突变之间的关系。
收集2010年1月至2012年10月间到里贝朗普雷图大学医院就甲状腺结节进行手术咨询并接受分子检测的患者的临床信息。检测包括基于DNA的BRAFV600E和pTERT突变的体细胞检测。
我们发现8.9%（4/45）的甲状腺结节中存在pTERTC228T和BRAFV600E突变共存。所有pTERT突变阳性的结节均为BRAFV600E阳性。与两种突变均为阴性的组相比，pTERTC228T/BRAFV600E与老年及晚期存在显著关联。
本系列研究提供了证据，表明FNA是术前诊断高危甲状腺结节的可靠方法。pTERTC228T/BRAFV600E突变可能是预后不良的标志物。其作为个性化分子医学工具以个性化治疗决策和随访设计的应用需要进一步研究。
