Cerebrospinal fluid liquid biopsy for detecting somatic mosaicism in brain.
cell-free DNA
cerebrospinal fluid
focal epilepsy
liquid biopsy
somatic mutations
Journal
Brain communications
ISSN: 2632-1297
Titre abrégé: Brain Commun
Pays: England
ID NLM: 101755125
Informations de publication
Date de publication:
2021
2021
Historique:
received:
16
11
2020
revised:
16
11
2020
accepted:
18
11
2020
entrez:
19
3
2021
pubmed:
20
3
2021
medline:
20
3
2021
Statut:
epublish
Résumé
Brain somatic mutations are an increasingly recognized cause of epilepsy, brain malformations and autism spectrum disorders and may be a hidden cause of other neurodevelopmental and neurodegenerative disorders. At present, brain mosaicism can be detected only in the rare situations of autopsy or brain biopsy. Liquid biopsy using cell-free DNA derived from cerebrospinal fluid has detected somatic mutations in malignant brain tumours. Here, we asked if cerebrospinal fluid liquid biopsy can be used to detect somatic mosaicism in non-malignant brain diseases. First, we reliably quantified cerebrospinal fluid cell-free DNA in 28 patients with focal epilepsy and 28 controls using droplet digital PCR. Then, in three patients we identified somatic mutations in cerebrospinal fluid: in one patient with subcortical band heterotopia the
Identifiants
pubmed: 33738444
doi: 10.1093/braincomms/fcaa235
pii: fcaa235
pmc: PMC7954394
doi:
Types de publication
Journal Article
Langues
eng
Pagination
fcaa235Commentaires et corrections
Type : ErratumIn
Informations de copyright
© The Author(s) (2021). Published by Oxford University Press on behalf of the Guarantors of Brain.
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