Circulating tumour DNA from the cerebrospinal fluid allows the characterisation and monitoring of medulloblastoma.
Journal
Nature communications
ISSN: 2041-1723
Titre abrégé: Nat Commun
Pays: England
ID NLM: 101528555
Informations de publication
Date de publication:
27 10 2020
27 10 2020
Historique:
received:
04
06
2020
accepted:
30
09
2020
entrez:
28
10
2020
pubmed:
29
10
2020
medline:
20
11
2020
Statut:
epublish
Résumé
The molecular characterisation of medulloblastoma, the most common paediatric brain tumour, is crucial for the correct management and treatment of this heterogenous disease. However, insufficient tissue sample, the presence of tumour heterogeneity, or disseminated disease can challenge its diagnosis and monitoring. Here, we report that the cerebrospinal fluid (CSF) circulating tumour DNA (ctDNA) recapitulates the genomic alterations of the tumour and facilitates subgrouping and risk stratification, providing valuable information about diagnosis and prognosis. CSF ctDNA also characterises the intra-tumour genomic heterogeneity identifying small subclones. ctDNA is abundant in the CSF but barely present in plasma and longitudinal analysis of CSF ctDNA allows the study of minimal residual disease, genomic evolution and the characterisation of tumours at recurrence. Ultimately, CSF ctDNA analysis could facilitate the clinical management of medulloblastoma patients and help the design of tailored therapeutic strategies, increasing treatment efficacy while reducing excessive treatment to prevent long-term secondary effects.
Identifiants
pubmed: 33110059
doi: 10.1038/s41467-020-19175-0
pii: 10.1038/s41467-020-19175-0
pmc: PMC7591522
doi:
Substances chimiques
Biomarkers, Tumor
0
Circulating Tumor DNA
0
DNA, Neoplasm
0
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
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