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Circulating tumour DNA from the cerebrospinal fluid allows the characterisation and monitoring of medulloblastoma Escudero Monreal, Laura Llort Sales, Anna Arias Piñeiro, Alexandra Diaz-Navarro, Ander Martínez Ricarte, Francisco Ramón Rubio Pérez, Carlota Mayor Ferreras, Regina Gabriela Caratú, Ginevra Martinez Saez, Elena Antima Vázquez Méndez, Josefa Élida Hladun Alvaro, Raquel Gros Subias, Luís Ramon y Cajal Agüeras, Santiago Poca Pastor, Ma Antonia Sahuquillo Barris, Joan Gallego Melcón, Soledad Seoane Suarez, Joan Institut Català de la Salut [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 Vall d'Hebron Barcelona Hospital Campus Medul·loblastoma Càncer - Aspectes genètics DISEASES::Neoplasms::Neoplasms by Histologic Type::Neoplasms, Germ Cell and Embryonal::Neuroectodermal Tumors::Neoplasms, Neuroepithelial::Glioma::Medulloblastoma CHEMICALS AND DRUGS::Nucleic Acids, Nucleotides, and Nucleosides::Nucleic Acids::Cell-Free Nucleic Acids::Circulating Tumor DNA Other subheadings::Other subheadings::Other subheadings::/cerebrospinal fluid ENFERMEDADES::neoplasias::neoplasias por tipo histológico::neoplasias de células germinales y embrionarias::tumores neuroectodérmicos::neoplasias neuroepiteliales::glioma::meduloblastoma COMPUESTOS QUÍMICOS Y DROGAS::nucleótidos y nucleósidos de ácidos nucleicos::ácidos nucleicos::ácidos nucleicos libres de células::ADN tumoral circulante Otros calificadores::Otros calificadores::Otros calificadores::/líquido cefalorraquídeo Genètica del càncer; Càncer del SNC; Càncer pediàtric Genética del cáncer; Cáncer del SNC; Cáncer pediátrico Cancer genetics; CNS cancer; Paediatric cancer 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. 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. 2021-09-03T10:29:16Z 2021-09-03T10:29:16Z 2020-10-27 info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion 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. 2041-1723 https://hdl.handle.net/11351/6263 10.1038/s41467-020-19175-0 33110059 000594622300001 http://hdl.handle.net/11351/6263 eng Nature Communications;11 https://doi.org/10.1038/s41467-020-19175-0 info:eu-repo/grantAgreement/ES/PE2013-2016/PI16%2F01278 info:eu-repo/grantAgreement/ES/PE2013-2016/SAF2013-45836-R Attribution 4.0 International http://creativecommons.org/licenses/by/4.0/ info:eu-repo/semantics/openAccess application/pdf application/pdf Nature Research Scientia