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The prognostic impact of TERT promoter mutations in glioblastomas is modified by the rs2853669 single nucleotide polymorphism

2016; Wiley; Volume: 139; Issue: 2 Linguagem: Inglês

10.1002/ijc.30057

1097-0215

Rui Batısta, Adriana Cruvinel‐Carloni, João Vinagre, Joana Peixoto, Telmo Catarino, Nathália C. Campanella, Weder Pereira de Menezes, Aline Paixão Becker, Gisele Caravina de Almeida, Marcus Matsushita, Carlos Clara, Luciano Neder, Marta Viana‐Pereira, Mrinalini Honavar, Lígia Castro, José Manuel Lopes, Bruno Carvalho, Ruí Vaz, Valdemar Máximo, Paula Soares, Manuel Sobrinho‐Simões, Rui Manuel Reis, Jorge Lima,

Chromatin Remodeling and Cancer

Human hotspot TERT promoter (TERTp) mutations have been reported in a wide range of tumours. Several studies have shown that TERTp mutations are associated with clinicopathological features; in some instances, TERTp mutations were considered as biomarkers of poor prognosis. The rs2853669 SNP, located in the TERT promoter region, was reported to modulate the increased TERT expression levels induced by the recurrent somatic mutations. In this study we aimed to determine the frequency and prognostic value of TERTp mutations and TERT rs2853669 SNP in 504 gliomas from Portuguese and Brazilian patients. TERTp mutations were detected in 47.8% of gliomas (216/452). Glioblastomas (GBM) exhibited the highest frequency of TERTp mutations (66.9%); in this glioma subtype, we found a significant association between TERTp mutations and poor prognosis, regardless of the population. Moreover, in a multivariate analysis, TERTp mutations were the only independent prognostic factor. Our data also showed that the poor prognosis conferred by TERTp mutations was restricted to GBM patients carrying the rs2853669 A allele and not in those carrying the G allele. In conclusion, the presence of TERTp mutations was associated with worse prognosis in GBM patients, although such association depended on the status of the rs2853669 SNP. The status of the rs2853669 SNP should be taken in consideration when assessing the prognostic value of TERTp mutations in GBM patients. TERTp mutations and the rs2853669 SNP can be used in the future as biomarkers of glioma prognosis.