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- Title
Circulating tumour DNA from the cerebrospinal fluid allows the characterisation and monitoring of medulloblastoma.
- Authors
Escudero, Laura; Llort, Anna; Arias, Alexandra; Diaz-Navarro, Ander; Martínez-Ricarte, Francisco; Rubio-Perez, Carlota; Mayor, Regina; Caratù, Ginevra; Martínez-Sáez, Elena; Vázquez-Méndez, Élida; Lesende-Rodríguez, Iván; Hladun, Raquel; Gros, Luis; Ramón y Cajal, Santiago; Poca, Maria A.; Puente, Xose S.; Sahuquillo, Juan; Gallego, Soledad; Seoane, Joan
- Abstract
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. Non-invasive and precise methods are critical for monitoring paediatric brain cancers. Here the authors show that the molecular alterations and heterogeneity of paediatric medulloblastomas can be reliably detected in circulating tumour DNA from the cerebrospinal fluid – a routinely collected sample.
- Subjects
CIRCULATING tumor DNA; CEREBROSPINAL fluid; CEREBROSPINAL fluid examination; TUMORS; TREATMENT effectiveness; DNA; BRAIN tumors
- Publication
Nature Communications, 2020, Vol 11, Issue 1, p1
- ISSN
2041-1723
- Publication type
Article
- DOI
10.1038/s41467-020-19175-0