Cited by 285Glioma Diagnosis and TreatmentNeuroblastoma Research and TreatmentsCancer Genomics and Diagnostics

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Medulloblastomics revisited: biological and clinical insights from thousands of patients

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Hovestadt, Volker, Ayrault, Olivier, Swartling, Fredrik J., Robinson, Giles W., Pfister, Stefan M., Northcott, Paul A.·2020·Nature Reviews Cancer

DOI 10.1038/s41568-019-0223-8PMC PMC9113832

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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.

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Sharma, T. et al. Second-generation molecular subgrouping of medulloblastoma: an international meta-analysis of Group 3 and Group 4 subtypes. Acta Neuropathol. 138, 309–326 (2019). · DOI · Paper page

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Authors: Hovestadt, V., Ayrault, O., Swartling, F. J., Robinson, G. W., Pfister, S. M., & Northcott, P. A.
Affiliations: Broad Institute (US)
Université Paris-Sud (FR)
Uppsala University (SE)
St. Jude Children's Research Hospital (US)
German Cancer Research Center (DE)
Corresponding author: Northcott, Paul A.
ORCID: Hovestadt, Volker
Ayrault, Olivier
Swartling, Fredrik J.
Robinson, Giles W.
Pfister, Stefan M.
Northcott, Paul A.
Venue: Nature Reviews Cancer
Publisher: Springer Science and Business Media LLC
Published: 2019-12-09
Volume: 20
Issue: 1
Pages: 42-56
ISSN: 1474-175X (ISSN-L)
1474-1768
DOI: 10.1038/s41568-019-0223-8
PMC: PMC9113832
OpenAlex: W2991944835
Cited by: 271
References: 155
Citations by year: 2026: 26 · 2025: 47 · 2024: 44 · 2023: 53 · 2022: 36 · 2021: 45 · 2020: 17 · 2019: 1
FWCI: 3.07
Type: journal article
Language: en
Open access: green
www.ncbi.nlm.nih.gov
Licence: www.springer.com/tdm (tdm)
www.springer.com/tdm (vor)
Locations: Nature reviews. Cancer (publishedVersion)
PubMed (publishedVersion)
PubMed Central (acceptedVersion)
HAL (submittedVersion, other-oa)
Funders: National Cancer Institute (R01CA232143)
Topics: Health Sciences › Medicine › Oncology › Glioma Diagnosis and Treatment
Health Sciences › Medicine › Oncology › Neuroblastoma Research and Treatments
Life Sciences › Biochemistry, Genetics and Molecular Biology › Cancer Research › Cancer Genomics and Diagnostics
Keywords: medulloblastoma, molecular subtypes, single-cell profiling, genomic profiling, epigenetic profiling, gene expression profiling, proteomic profiling, tumor heterogeneity, tumor recurrence, pediatric brain tumors, targeted therapy, diagnosis
MeSH terms: Animals, Combined Modality Therapy, Disease Susceptibility, Humans, Medulloblastoma, Neoplasm Metastasis, Neoplasm Staging, Prognosis, Recurrence, Biomarkers, Tumor, Treatment Outcome, Disease Management, Genomics, Molecular Diagnostic Techniques, Proteomics, Genetic Association Studies, Epigenomics, Tumor Microenvironment

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Medulloblastomics revisited: biological and clinical insights from thousands of patients

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