Co-detection of mutations and methylations in cerebrospinal fluid ctdna for minimally-invasive diagnosis of brainstem glioma.

ABSTRACT:

Background

Genetic and epigenetic profiles are critical in managing brainstem gliomas (BSG), whose heterogeneity is far beyond the realm of the Diffuse midline glioma, H3K27 altered. Cerebrospinal fluid (CSF) circulating tumor DNA (ctDNA)-based liquid biopsy provides minimally-invasive strategies to acquire molecular information for brain tumors, whereas there is a deficiency in techniques for co-detection of genetic and epigenetic alterations due to the limited yield of ctDNA. This study aims to develop a reliable minimally-invasive approach to simultaneously detect the mutation and methylation profiles in the CSF ctDNA of BSGs, thereby enhancing diagnostic accuracy, prognostic capability, and monitoring potential.

Methods

A cohort of 80 BSG cases with 138 CSF samples and 7

SUBMITTER: Li T 

PROVIDER: S-EPMC12502398 | biostudies-literature | 2025 Oct

REPOSITORIES: biostudies-literature