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Clonal selection drives genetic divergence of metastatic medulloblastoma
Journal article   Peer reviewed

Clonal selection drives genetic divergence of metastatic medulloblastoma

Xiaochong Wu, Paul A Northcott, Adrian Dubuc, Adam J Dupuy, David J H Shih, Hendrik Witt, Sidney Croul, Eric Bouffet, Daniel W Fults, Charles G Eberhart, …
Nature (London), Vol.482(7386), pp.529-533
02/15/2012
DOI: 10.1038/nature10825
PMCID: PMC3288636
PMID: 22343890

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Abstract

Medulloblastoma, the most common malignant paediatric brain tumour, arises in the cerebellum and disseminates through the cerebrospinal fluid in the leptomeningeal space to coat the brain and spinal cord. Dissemination, a marker of poor prognosis, is found in up to 40% of children at diagnosis and in most children at the time of recurrence. Affected children therefore are treated with radiation to the entire developing brain and spinal cord, followed by high-dose chemotherapy, with the ensuing deleterious effects on the developing nervous system. The mechanisms of dissemination through the cerebrospinal fluid are poorly studied, and medulloblastoma metastases have been assumed to be biologically similar to the primary tumour. Here we show that in both mouse and human medulloblastoma, the metastases from an individual are extremely similar to each other but are divergent from the matched primary tumour. Clonal genetic events in the metastases can be demonstrated in a restricted subclone of the primary tumour, suggesting that only rare cells within the primary tumour have the ability to metastasize. Failure to account for the bicompartmental nature of metastatic medulloblastoma could be a major barrier to the development of effective targeted therapies.
Humans Survival Rate Genes, p53 - genetics Clonal Evolution - genetics Germ-Line Mutation - genetics Li-Fraumeni Syndrome - genetics Neoplasm Metastasis - genetics DNA Methylation Animals Neoplasm Metastasis - pathology Medulloblastoma - pathology DNA Transposable Elements - genetics Medulloblastoma - complications CpG Islands - genetics Mice Mutagenesis, Insertional Li-Fraumeni Syndrome - complications Medulloblastoma - genetics Disease Models, Animal

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