TERTmonitor-qPCR Detection of TERTp Mutations in Glioma

• Type: Article in International Scientific Journal
• Date: 2023

Authors

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

Journal

Title: Genes

Vol. 14

Final page: 1693

ISSN: 2073-4425

Publisher: MDPI

Indexing

ISI Web of Knowledge - 1 Citation

Scopus - 2 Citations

Other information

Authenticus ID: 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.

Language: English

Type (Professor's evaluation): Scientific

No. of pages: 12