医学
甲状腺乳突癌
甲状腺癌
甲状腺
内科学
入射(几何)
肿瘤科
队列
突变
临床意义
癌症研究
基因
病理
生物
遗传学
光学
物理
作者
Dario de Biase,Greta Gandolfi,Moira Ragazzi,Markus Eszlinger,Valentina Sancisi,Mila Gugnoni,Michela Visani,Annalisa Pession,Gianpaolo Casadei,Cosimo Durante,Giuseppe Costante,Rocco Bruno,Massimo Torlontano,Ralf Paschke,Sébastiano Filetti,Simonetta Piana,Andrea Frasoldati,Giovanni Tallini,Alessia Ciarrocchi
出处
期刊:Thyroid
[Mary Ann Liebert]
日期:2015-09-01
卷期号:25 (9): 1013-1019
被引量:85
标识
DOI:10.1089/thy.2015.0101
摘要
Small papillary thyroid carcinomas have contributed to the worldwide increased incidence of differentiated thyroid cancer observed over the past decades. However, the mortality rate has not changed over the same period of time, raising questions about the possibility that thyroid cancer patients, especially those with small tumors, are overdiagnosed and overtreated. Molecular prognostic marker able to discriminate aggressive thyroid cancers from those with an indolent course would be of great relevance to tailor the therapeutic approach and reduce overtreatment. Mutations in the TERT promoter were recently reported to correlate strongly with aggressiveness in advanced forms of thyroid cancer, holding promise for a possible clinical application. The occurrence and potential clinical relevance of TERT mutations in papillary thyroid microcarcinomas (mPTCs) is currently unknown. This study aimed to analyze the occurrence of two TERT promoter mutations (-124C>T and -146C>T) and their potential association with unfavorable clinical features in a large cohort of mPTCs.A total of 431 mPTCs cases were collected from six Italian institutions, and TERT promoter mutational status was assessed by a next-generation sequencing approach.TERT promoter mutations were found in 4.7% of the analyzed mPTCs, showing that even microcarcinomas carry mutations in this gene. Correlation analysis showed that TERT promoter mutations are not associated with aggressive features or clinical outcome in the cohort analyzed.TERT mutations are present but uncommon in mPTCs. Apparently, in mPTCs, the occurrence of TERT mutations is not correlated with unfavorable clinical features.
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