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

•The development of liquid biopsy in neuro-oncology is a major challenge for personalized medicine.•Detection of somatic mutations in CSF is possible in two-thirds of patients with relapsing high-grade glioma.•The amount of circulating cell free DNA is associated with proteinorachia.•The generalizat...

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Bibliographic Details
Published in:Revue neurologique 2022-11, Vol.178 (9), p.975-980
Main Authors: Fontanilles, M., Deniel, A., Marguet, F., Beaussire, L., Magne, N., Derrey, S., Blanchard, F., Alexandru, C., Coutant, S., Laquerrière, A., Clatot, F., Di Fiore, F., Sarafan-Vasseur, N.
Format: Article
Language:English
Subjects:
Cerebrospinal fluid
Circulating tumor DNA
Glioblastoma
Life Sciences
Liquid biopsy
Next-generation sequencing
Somatic mutations
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Summary:•The development of liquid biopsy in neuro-oncology is a major challenge for personalized medicine.•Detection of somatic mutations in CSF is possible in two-thirds of patients with relapsing high-grade glioma.•The amount of circulating cell free DNA is associated with proteinorachia.•The generalization of the use of liquid biopsy in high-grade glioma patients now justifies larger daily-practice cohorts as well as clinical trials using circulating tumor DNA in CSF. 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.
ISSN:0035-3787
DOI:10.1016/j.neurol.2022.02.462