Circulating tumour DNA from the cerebrospinal fluid allows the characterisation and monitoring of medulloblastoma

Laura Escudero, Anna Llort, Alexandra Arias, Ander Diaz-Navarro, Francisco Martínez-Ricarte, Carlota Rubio-Perez, Regina Mayor, Ginevra Caratù, Elena Martínez-Sáez, Élida Vázquez-Méndez, Iván Lesende-Rodríguez, Raquel Hladun, Luis Gros, Santiago Ramón y Cajal, Maria A. Poca, Xose S. Puente, Juan Sahuquillo, Soledad Gallego and Joan Seoane ()
Additional contact information
Laura Escudero: Vall d’Hebron Institute of Oncology (VHIO), Vall d’Hebron University Hospital
Anna Llort: Vall d’Hebron Institut de Recerca (VHIR), Vall d’Hebron University Hospital
Alexandra Arias: Vall d’Hebron Institute of Oncology (VHIO), Vall d’Hebron University Hospital
Ander Diaz-Navarro: IUOPA-Universidad de Oviedo
Francisco Martínez-Ricarte: Vall d’Hebron Institut de Recerca (VHIR), Vall d’Hebron University Hospital
Carlota Rubio-Perez: Vall d’Hebron Institute of Oncology (VHIO), Vall d’Hebron University Hospital
Regina Mayor: Vall d’Hebron Institute of Oncology (VHIO), Vall d’Hebron University Hospital
Ginevra Caratù: Vall d’Hebron Institute of Oncology (VHIO), Vall d’Hebron University Hospital
Elena Martínez-Sáez: Vall d’Hebron Institut de Recerca (VHIR), Vall d’Hebron University Hospital
Élida Vázquez-Méndez: Vall d’Hebron Institut de Recerca (VHIR), Vall d’Hebron University Hospital
Iván Lesende-Rodríguez: Universidade de A Coruña (UDC)
Raquel Hladun: Vall d’Hebron Institut de Recerca (VHIR), Vall d’Hebron University Hospital
Luis Gros: Vall d’Hebron Institut de Recerca (VHIR), Vall d’Hebron University Hospital
Santiago Ramón y Cajal: Vall d’Hebron Institut de Recerca (VHIR), Vall d’Hebron University Hospital
Maria A. Poca: Vall d’Hebron Institut de Recerca (VHIR), Vall d’Hebron University Hospital
Xose S. Puente: IUOPA-Universidad de Oviedo
Juan Sahuquillo: Vall d’Hebron Institut de Recerca (VHIR), Vall d’Hebron University Hospital
Soledad Gallego: Vall d’Hebron Institut de Recerca (VHIR), Vall d’Hebron University Hospital
Joan Seoane: Vall d’Hebron Institute of Oncology (VHIO), Vall d’Hebron University Hospital

Nature Communications, 2020, vol. 11, issue 1, 1-11

Abstract: 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.

Date: 2020
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DOI: 10.1038/s41467-020-19175-0

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