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Updated: Mar 25, 2026
Detection and Monitoring of Tumor Associated Circulating DNA in Patient Biofluids
Published on: June 8, 2019
Integrated detection of cerebrospinal fluid cfDNA/cfRNA and molecular concordance with glioma characteristics
Maoyuan Sun1,2,3, Shan Jiang1,2,3, Houshi Xu4
1Department of Neurosurgery, Huashan Hospital, Fudan University, Shanghai, China.
Background:
Accurate glioma diagnosis relies on tissue biopsy, which is often challenging. Liquid biopsy offers an alternative, but single-component circulating free DNA (cfDNA) or circulating free RNA (cfRNA) approaches have limited comprehensiveness. We developed and validated GlioKit, a platform for simultaneous cfDNA and cfRNA extraction from cerebrospinal fluid (CSF) to enhance diagnostic coverage, and evaluated its accuracy by correlating CSF-derived molecular profiles with tumor characteristics.
Methods:
We retrospectively analyzed 71 patients from the China Glioma Liquid Biopsy MultiOmics Atlas (C-Glioma) database, including 31 GBM, 36 IDH-mutant gliomas, and 4 diffuse midline gliomas (DMGs). Using GlioKit, we simultaneously extracted and analyzed CSF cfDNA and cfRNA, targeting 6 mutations (IDH1, IDH2, H3F3A, HIST1H3B, TERT, BRAF) and 2 fusions (EGFR, MET). Concordance between CSF-derived mutations and matched tumor tissue features was assessed overall and stratified by CSF collection method (lumbar puncture, surgery, or Ommaya reservoir).
Results:
Among 71 glioma CSF samples, cfDNA mutations were detected in 55 (77%), cfRNA in 15 of 44 (34%). Overall, cfDNA-tumor concordance was 89%, and cfRNA was 73%. Subgroup analysis revealed cfDNA detection rates of 33/41 (surgery), 11/15 (Ommaya), and 11/15 (lumbar puncture); cfRNA detection rates were 5/25, 6/11, and 4/8, respectively. Corresponding concordance rates were cfDNA-30/33 (surgery), 10/11 (Ommaya), and 9/11 (lumbar puncture); cfRNA-4/5, 5/6, and 2/4.
Conclusions:
Cerebrospinal fluid-derived cfDNA and cfRNA variations closely align with tumor genomic alterations, validating CSF as a minimally invasive source for glioma molecular subtyping. GlioKit has potential for glioma diagnosis and therapy planning.
