Usefulness of circulating tumor DNA from cerebrospinal fluid in recurrent high-grade glioma

• DOI: 10.1016/j.neurol.2022.02.462
• Publication Date: 2022-07-21T02:37:03Z
• Authors: M. Fontanilles; A. Deniel; F. Marguet; L. Beaussire; N. Magne; S. Derrey; F. Blanchard; C. Alexandru; S. Coutant; A. Laquerrière; F. Clatot; F. Di Fiore; N. Sarafan-Vasseur
• Keywords: 0303 health sciences; [SDV]Life Sciences [q-bio]; High-Throughput Nucleotide Sequencing; Pilot Projects; Glioma; Circulating Tumor DNA; 3. Good health; 03 medical and health sciences; Mutation; Biomarkers, Tumor; Humans; Prospective Studies; Neoplasm Recurrence, Local; Glioblastoma

Molecular documentation at relapse of high-grade glioma is an urgent need for patient care. A prospective pilot study was conducted to assess the rate of mutation detection using targeted deep sequencing on circulating tumor DNA from cerebrospinal fluid (CSF) after chemo-radiotherapy based treatment. Fifteen patients were included: 13 patients with glioblastoma, 1 patient with gliosarcoma and 1 patient with anaplastic astrocytoma. At progression, 10/15 patients (67%) had detectable mutations in the CSF. Among them, 5/10 patients harbored at least one common mutation between initial tumor and ctDNA. CSF protein level and cfDNA concentration were higher, although not significant, in the ctDNA positive group versus ctDNA negative group (1.17g/L vs. 0.79g/L). Molecular documentation obtained from ctDNA in CSF at the time of relapse is informative in around two-thirds of the patients.