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Medulloblastomics revisited: biological and clinical insights from thousands of patients.


ABSTRACT: Medulloblastoma, a malignant brain tumour primarily diagnosed during childhood, has recently been the focus of intensive molecular profiling efforts, profoundly advancing our understanding of biologically and clinically heterogeneous disease subgroups. Genomic, epigenomic, transcriptomic and proteomic landscapes have now been mapped for an unprecedented number of bulk samples from patients with medulloblastoma and, more recently, for single medulloblastoma cells. These efforts have provided pivotal new insights into the diverse molecular mechanisms presumed to drive tumour initiation, maintenance and recurrence across individual subgroups and subtypes. Translational opportunities stemming from this knowledge are continuing to evolve, providing a framework for improved diagnostic and therapeutic interventions. In this Review, we summarize recent advances derived from this continued molecular characterization of medulloblastoma and contextualize this progress towards the deployment of more effective, molecularly informed treatments for affected patients.

SUBMITTER: Hovestadt V 

PROVIDER: S-EPMC9113832 | biostudies-literature | 2020 Jan

REPOSITORIES: biostudies-literature

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Medulloblastomics revisited: biological and clinical insights from thousands of patients.

Hovestadt Volker V   Ayrault Olivier O   Swartling Fredrik J FJ   Robinson Giles W GW   Pfister Stefan M SM   Northcott Paul A PA  

Nature reviews. Cancer 20191209 1


Medulloblastoma, a malignant brain tumour primarily diagnosed during childhood, has recently been the focus of intensive molecular profiling efforts, profoundly advancing our understanding of biologically and clinically heterogeneous disease subgroups. Genomic, epigenomic, transcriptomic and proteomic landscapes have now been mapped for an unprecedented number of bulk samples from patients with medulloblastoma and, more recently, for single medulloblastoma cells. These efforts have provided pivo  ...[more]

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