Comparative Detection of IDH1 R132H and TERT Promoter Mutations in Plasma and Cerebrospinal Fluid of Patients with Glioma Using Targeted Droplet Digital PCR

Background/Objectives: Molecular profiling is essential for glioma classification, but in some cases tissue sampling may be limited, whereas reported detectability of cell-free tumor DNA (cftDNA) in plasma and cerebrospinal fluid (CSF) varies considerably. The aim of this study was to compare the detection rates and concentrations of cftDNA carrying IDH1 R132H and TERT promoter C228T/C250T mutations in paired plasma and CSF samples, as well as to examine associated clinical characteristics.

Methods

66 patients with WHO grade 1–4 gliomas were enrolled before surgery. Preoperative plasma and lumbar CSF were collected before tissue-damaging procedures. Cell-free DNA (cfDNA) was isolated from 5 mL of plasma and 2.5–5.0 mL of CSF and analyzed using mutation-specific droplet digital PCR (ddPCR) assays.