TERT Promoter Mutation Analysis for Blood-Based Diagnosis and Monitoring of Gliomas.

ABSTRACT:

Purpose

Liquid biopsy offers a minimally invasive tool to diagnose and monitor the heterogeneous molecular landscape of tumors over time and therapy. Detection of TERT promoter mutations (C228T, C250T) in cfDNA has been successful for some systemic cancers but has yet to be demonstrated in gliomas, despite the high prevalence of these mutations in glioma tissue (>60% of all tumors).

Experimental design

Here, we developed a novel digital droplet PCR (ddPCR) assay that incorporates features to improve sensitivity and allows for the simultaneous detection and longitudinal monitoring of two TERT promoter mutations (C228T and C250T) in cfDNA from the plasma of patients with glioma.

Results

In baseline performance in tumor tissue, t

SUBMITTER: Muralidharan K 

PROVIDER: S-EPMC7785705 | biostudies-literature | 2021 Jan

REPOSITORIES: biostudies-literature