TERTmonitor-qPCR Detection of TERTp Mutations in Glioma

• Tipo: Artigo em Revista Científica Internacional
• Data: 2023

Autores

Brás, JP (Autor) Outra; Jesus, TT (Autor) Outra; Prazeres, H (Autor) Outra; Lima, J (Autor) Outra; Soares, P (Autor) FMUP; Vinagre, J (Autor) Outra

Revista

Título: Genes

Vol. 14

Página Final: 1693

ISSN: 2073-4425

Editora: MDPI

Indexação

ISI Web of Knowledge - 1 Citação

Scopus - 2 Citações

Outras Informações

ID Authenticus: P-00Z-44D

DOI: 10.3390/genes14091693

Abstract (EN): Telomerase promoter (TERTp) mutations are frequently observed in various types of tumours and commonly characterised by two specific hotspots located at positions -124 and -146 upstream of the start codon. They enhance TERTp activity, resulting in increased TERT expression. In central nervous system (CNS) tumours, they are integrated as biomarkers, aiding in the diagnosis and with a role in prognosis, where, in some settings, they are associated with aggressive behaviour. In this study, we evaluated the performance of TERTmonitor for TERTp genotyping in a series of 185 gliomas in comparison to the traditional method, Sanger sequencing. Against the gold-standard Sanger method, TERTmonitor performed with a 97.8% accuracy. Inaccuracy was mainly due to the over-detection of variants in negative cases (by Sanger) and the presence of variants that can modify the chemistry of the probe detection. The distribution of the mutations was comparable to other series, with the -124 being the most represented (38.92% for Sanger and TERTmonitor) and more prevalent in the higher-grade tumours, gliosarcoma (50.00%) and glioblastoma (52.6%). The non-matched cases are debatable, as we may be dealing with the reduced sensitivity of Sanger in detecting rare alleles, which strengthens the use of the TERTmonitor. With this study, we present a reliable and rapid potential tool for TERTp genotyping in gliomas.

Idioma: Inglês

Tipo (Avaliação Docente): Científica

Nº de páginas: 12