dc.contributor
Institut Català de la Salut
dc.contributor
[Escudero L, Arias A, Rubio-Perez C, Mayor R, Caratù G] Vall d’Hebron Institute of Oncology (VHIO), Barcelona, Spain. Vall d’Hebron Hospital Universitari, Barcelona, Spain. [Llort A, Martínez-Sáez E, Vázquez-Méndez É, Hladun R, Gros L, Ramón Y Cajal S] Vall d’Hebron Institut de Recerca (VHIR), Barcelona, Spain. Vall d’Hebron Hospital Universitari, Barcelona, Spain. [Diaz-Navarro A] Dpto. de Bioquímica y Biología Molecular, IUOPA-Universidad de Oviedo, 33006 Oviedo, Spain. CIBERONC, Barcelona, Spain. [Martínez-Ricarte F, Poca MA, Sahuquillo J, Gallego S] Vall d’Hebron Institut de Recerca (VHIR), Barcelona, Spain. Vall d’Hebron Hospital Universitari, Barcelona, Spain. Universitat Autònoma de Barcelona, Bellaterra, Spain. [Seoane J] Vall d’Hebron Institute of Oncology (VHIO), Barcelona, Spain. Vall d’Hebron Hospital Universitari, Barcelona, Spain. CIBERONC, Barcelona, Spain. Universitat Autònoma de Barcelona, Bellaterra, Spain. Institució Catalana de Recerca i Estudis Avançats (ICREA), 08010 Barcelona, Spain
dc.contributor
Vall d'Hebron Barcelona Hospital Campus
dc.contributor.author
Escudero Monreal, Laura
dc.contributor.author
Llort Sales, Anna
dc.contributor.author
Arias Piñeiro, Alexandra
dc.contributor.author
Diaz-Navarro, Ander
dc.contributor.author
Martínez Ricarte, Francisco Ramón
dc.contributor.author
Rubio Pérez, Carlota
dc.contributor.author
Mayor Ferreras, Regina Gabriela
dc.contributor.author
Caratú, Ginevra
dc.contributor.author
Martinez Saez, Elena Antima
dc.contributor.author
Vázquez Méndez, Josefa Élida
dc.contributor.author
Hladun Alvaro, Raquel
dc.contributor.author
Gros Subias, Luís
dc.contributor.author
Ramon y Cajal Agüeras, Santiago
dc.contributor.author
Poca Pastor, Ma Antonia
dc.contributor.author
Sahuquillo Barris, Joan
dc.contributor.author
Gallego Melcón, Soledad
dc.contributor.author
Seoane Suarez, Joan
dc.date.accessioned
2023-11-08T10:19:34Z
dc.date.available
2023-11-08T10:19:34Z
dc.date.issued
2021-09-03T10:29:16Z
dc.date.issued
2021-09-03T10:29:16Z
dc.date.issued
2020-10-27
dc.identifier
Escudero L, Llort A, Arias A, Diaz-Navarro A, Martínez-Ricarte F, Rubio-Perez C, et al. Circulating tumour DNA from the cerebrospinal fluid allows the characterisation and monitoring of medulloblastoma. Nat Commun. 2020 Oct 27;11:5376.
dc.identifier
https://hdl.handle.net/11351/6263
dc.identifier
10.1038/s41467-020-19175-0
dc.identifier
000594622300001
dc.identifier.uri
https://hdl.handle.net/11351/6263
dc.description.abstract
Genètica del càncer; Càncer del SNC; Càncer pediàtric
dc.description.abstract
Genética del cáncer; Cáncer del SNC; Cáncer pediátrico
dc.description.abstract
Cancer genetics; CNS cancer; Paediatric cancer
dc.description.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.
dc.description.abstract
We would like to thank the patients at the Vall d’Hebron Hospital that were enrolled in the study and their families. The study was undertaken with the support of the Fundación Asociación Española contra el Cáncer (AECC), FERO (EDM), Ramón Areces Foundation, Cellex Foundation, BBVA (CAIMI), the ISCIII, FIS (PI16/01278) and the Juan de la Cierva fellowship (L.E). X.S.P. is supported by Ministerio de Economía y Competitividad (MINECO) SAF2013-45836-R and CIBERONC; A.D.N. is supported by the Department of Education of the Basque Government (grant number PRE_2017_1_0100). We thank CERCA Programme/Generalitat de Catalunya for institutional support.
dc.format
application/pdf
dc.format
application/pdf
dc.publisher
Nature Research
dc.relation
Nature Communications;11
dc.relation
https://doi.org/10.1038/s41467-020-19175-0
dc.relation
info:eu-repo/grantAgreement/ES/PE2013-2016/PI16%2F01278
dc.relation
info:eu-repo/grantAgreement/ES/PE2013-2016/SAF2013-45836-R
dc.rights
Attribution 4.0 International
dc.rights
http://creativecommons.org/licenses/by/4.0/
dc.rights
info:eu-repo/semantics/openAccess
dc.subject
Medul·loblastoma
dc.subject
Càncer - Aspectes genètics
dc.subject
DISEASES::Neoplasms::Neoplasms by Histologic Type::Neoplasms, Germ Cell and Embryonal::Neuroectodermal Tumors::Neoplasms, Neuroepithelial::Glioma::Medulloblastoma
dc.subject
CHEMICALS AND DRUGS::Nucleic Acids, Nucleotides, and Nucleosides::Nucleic Acids::Cell-Free Nucleic Acids::Circulating Tumor DNA
dc.subject
Other subheadings::Other subheadings::Other subheadings::/cerebrospinal fluid
dc.subject
ENFERMEDADES::neoplasias::neoplasias por tipo histológico::neoplasias de células germinales y embrionarias::tumores neuroectodérmicos::neoplasias neuroepiteliales::glioma::meduloblastoma
dc.subject
COMPUESTOS QUÍMICOS Y DROGAS::nucleótidos y nucleósidos de ácidos nucleicos::ácidos nucleicos::ácidos nucleicos libres de células::ADN tumoral circulante
dc.subject
Otros calificadores::Otros calificadores::Otros calificadores::/líquido cefalorraquídeo
dc.title
Circulating tumour DNA from the cerebrospinal fluid allows the characterisation and monitoring of medulloblastoma
dc.type
info:eu-repo/semantics/article
dc.type
info:eu-repo/semantics/publishedVersion
