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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“5a, Supplementary Data 6).”
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Background
Veliparib Is an Effective Radiosensitizing Agent in a Preclinical Model of Medulloblastoma
Buck, J. M., Dyer, P., Hii, H. L., Carline, B., Kuchibhotla, M., Byrne, J., Howlett, M., Whitehouse, J. P., Ebert, M. A., McDonald, K. L., et al. (2021) · Frontiers in Molecular Biosciences · doi:10.3389/fmolb.2021.633344 · Cited by 19
The Non-coding Side of Medulloblastoma
Laneve, P., & Caffarelli, E. (2020) · Frontiers in Cell and Developmental Biology · doi:10.3389/fcell.2020.00275 · Cited by 17
“Anatomically, these tumors have a midline vermian location adjacent to the fourth ventricle (Taylor et al., 2012; Perreault et al., 2014; Hovestadt et al., 2020).”
BackgroundInfluential
Advances on Epigenetic Drugs for Pediatric Brain Tumors
Skouras, P., Markouli, M., Strepkos, D., & Piperi, C. (2022) · Current Neuropharmacology · doi:10.2174/1570159x20666220922150456 · Cited by 16
Pathological implications of metabolic reprogramming and its therapeutic potential in medulloblastoma
Marabitti, V., Giansanti, M., Mitri, F. D., Gatto, F., Mastronuzzi, A., & Nazio, F. (2022) · Frontiers in Cell and Developmental Biology · doi:10.3389/fcell.2022.1007641 · Cited by 18
“approximately one-third of MB diagnoses, it is of paramount importance to expand our knowledge about the other MB subgroups that likely arise from different tumor-initiating populations (Hovestadt et al., 2020).”
Background
N-myc–Mediated Translation Control Is a Therapeutic Vulnerability in Medulloblastoma
Kuzuoğlu‐Öztürk, D., Aksoy, O., Schmidt, C., Lea, R., Larson, J. D., Phelps, R. R. L., Nasholm, N. M., Holt, M., Contreras, A., Huang, M., et al. (2022) · Cancer Research · doi:10.1158/0008-5472.can-22-0945 · Cited by 13
Review of the Recent Changes in the WHO Classification for Pediatric Brain and Spinal Cord Tumors
Halfpenny, A. M., & Wood, M. D. (2023) · Pediatric Neurosurgery · doi:10.1159/000528957 · Cited by 16
“Genetic and epigenetic analysis supports that there are many more molecularly distinct medulloblastoma subtypes, including about 8 subclasses within the non-WNT/non-SHH (group 3/4) tumors [63].”
Background
Multiparametric MRI-Based Radiomics Signature with Machine Learning for Preoperative Prediction of Prognosis Stratification in Pediatric Medulloblastoma
Luo, Y., Zhuang, Y., Zhang, S., Wang, J., Teng, S., & Zeng, H. (2023) · Academic Radiology · doi:10.1016/j.acra.2023.06.023 · Cited by 16
Surviving the hunger games: Metabolic reprogramming in medulloblastoma
Manfreda, L., Rampazzo, E., Persano, L., Viola, G., & Bortolozzi, R. (2023) · Biochemical Pharmacology · doi:10.1016/j.bcp.2023.115697 · Cited by 15
MBMethPred: a computational framework for the accurate classification of childhood medulloblastoma subgroups using data integration and AI-based approaches
Rahmani, E. S., Lawarde, A., Lingasamy, P., Moreno, S. V., Salumets, A., & Modhukur, V. (2023) · Frontiers in Genetics · doi:10.3389/fgene.2023.1233657 · Cited by 17
“To overcome this issue, integration of multi-omics data (including DNA methylation, gene expression, and clinical features) and application of machine learning algorithms for the development of accurate classification models are required (Hovestadt et al., 2020).”
Targeting DNA Methylation Machinery in Pediatric Solid Tumors
Cristalli, C., & Scotlandi, K. (2024) · Cells · doi:10.3390/cells13141209 · Cited by 14
“Over the years, MB has been extensively sequenced by distinct -omics (that is, genomic, epigenomic, transcriptomic, and proteomic) [105] and, as a result, the molecular classification of MB has evolved beyond the four consensus subgroups to include additional subdivisions (also referred to as…”
Background
Genomic and Transcriptomic Analyses Reveals ZNF124 as a Critical Regulator in Highly Aggressive Medulloblastomas
Luo, Z., Dong, X., Yu, J., Xia, Y., Berry, K., Rao, R., Xu, L., Xue, P., Chen, T., Lin, Y., et al. (2021) · Frontiers in Cell and Developmental Biology · doi:10.3389/fcell.2021.634056 · Cited by 14
PRDM6 promotes medulloblastoma by repressing chromatin accessibility and altering gene expression
Schmidt, C., Cohen, S., Gudenas, B. L., Husain, S., Carlson, A., Westelman, S., Wang, L., Phillips, J. J., Northcott, P. A., Weiss, W. A., et al. (2024) · Scientific Reports · doi:10.1038/s41598-024-66811-6 · Cited by 14
Self-citation
Modeling craniopharyngioma for drug screening reveals a neuronal mechanism for tumor growth
Li, S., Li, W., Miao, Y., Gao, M., Jia, Y., Chen, Z., Chen, X., Pan, T., Zhang, S., Xing, Z., et al. (2024) · Science Translational Medicine · doi:10.1126/scitranslmed.adn6763 · Cited by 15
Spatial proteomics finds CD155 and Endophilin-A1 as mediators of growth and invasion in medulloblastoma
Capdeville, C., Russo, L. A., Pentón, D., Migliavacca, J., Zecevic, M., Gries, A., Neuhauss, S. C. F., Grotzer, M. A., & Baumgartner, M. (2022) · Life Science Alliance · doi:10.26508/lsa.202201380 · Cited by 13
“niospinal irradiation followed by chemotherapy (11).”
SALL4 is a CRL3REN/KCTD11 substrate that drives Sonic Hedgehog-dependent medulloblastoma
Lospinoso Severini, L., Loricchio, E., Navacci, S., Basili, I., Alfonsi, R., Bernardi, F., Moretti, M., Conenna, M., Cucinotta, A., Coni, S., et al. (2024) · Cell Death & Differentiation · doi:10.1038/s41418-023-01246-6 · Cited by 13
“In the last decade, whole genome sequencing approaches have de ﬁ ned speci ﬁ c mutational spectra and epigenetic pro ﬁ ling leading to the identi ﬁ cation of distinct subgroups, namely Wingless (WNT), Sonic Hedgehog (SHH), and non-WNT/non-SHH, comprising Group 3 (G3) and Group 4 (G4) [2].”
Self-citation
T-Cell Factors as Transcriptional Inhibitors: Activities and Regulations in Vertebrate Head Development
Bou‐Rouphael, J., & Durand, B. (2021) · Frontiers in Cell and Developmental Biology · doi:10.3389/fcell.2021.784998 · Cited by 13
Drivers Underlying Metastasis and Relapse in Medulloblastoma and Targeting Strategies
Holmberg, K. O., Borgenvik, A., Zhao, M., Giraud, G., & Swartling, F. J. (2024) · Cancers · doi:10.3390/cancers16091752 · Cited by 13
“Within the main MB subgroups, SHH and Group 4 patients have an intermediate prognosis (67–88% 5-year OS [20,21] and can present with primary metastatic dissemination (approx.”
BackgroundInfluentialSelf-citation
Restoration of miR-193a expression is tumor-suppressive in MYC amplified Group 3 medulloblastoma
Bharambe, H. S., Joshi, A. A., Yogi, K., Kazi, S., & Shirsat, N. V. (2020) · Acta Neuropathologica Communications · doi:10.1186/s40478-020-00942-5 · Cited by 12
Omega-3 fatty acids decrease CRYAB, production of oncogenic prostaglandin E2 and suppress tumor growth in medulloblastoma
Ljungblad, L. M., Bergqvist, F., Tümmler, C., Madawala, S. R. P., Olsen, T. K., Andonova, T., Jakobsson, P., Johnsen, J. I., Picková, J., Strandvik, B., et al. (2022) · Life Sciences · doi:10.1016/j.lfs.2022.120394 · Cited by 12
Gene expression profiling of Group 3 medulloblastomas defines a clinically tractable stratification based on KIRREL2 expression
Korshunov, A., Okonechnikov, K., Stichel, D., Schrimpf, D., Delaidelli, A., Tonn, S., Mynarek, M., Sievers, P., Sahm, F., Jones, D., et al. (2022) · Acta Neuropathologica · doi:10.1007/s00401-022-02460-1 · Cited by 12
“The Grp 3 MB molecular group was confirmed using t-distributed stochastic neighbor embedding (t-SNE) and uniform manifold approximation and projection for dimension reduction (UMAP) methods as described [13, 16, 21].”
BackgroundMethodSelf-citation
From sorting to sequencing in the molecular era: the evolution of the cancer stem cell model in medulloblastoma
Werbowetski‐Ogilvie, T. E. (2021) · FEBS Journal · doi:10.1111/febs.15817 · Cited by 13
Molecular subgrouping of medulloblastoma in pediatric population using the NanoString assay and comparison with immunohistochemistry methods
Kim, J. W., Park, S., Choi, S. A., Kim, S., Koh, E. J., Won, J., Nam, S. M., & Phi, J. H. (2022) · BMC Cancer · doi:10.1186/s12885-022-10328-6 · Cited by 12
“but assuming that those two cases out of eight (25%) in the SHH group were TP53 mutant, the proportion of TP53 mutations in our cohort does not seem significantly high compared figures in the literature [24, 27].”
BackgroundResultInfluential
A Radiologist’s Guide to the 2021 WHO Central Nervous System Tumor Classification: Part 2—Newly Described and Revised Tumor Types
Guerin, J. B., Kaufmann, T. J., Eckel, L. J., Morris, J. M., Vaubel, R. A., Giannini, C., & Johnson, D. R. (2023) · Radiology · doi:10.1148/radiol.221885 · Cited by 12
Decoding the Roles of Astrocytes and Hedgehog Signaling in Medulloblastoma
Duarte, T. T., Teixeira, S. A., Gonzalez‐Reyes, L. E., & Reis, R. M. (2021) · Current Oncology · doi:10.3390/curroncol28040267 · Cited by 10
Group-specific cellular metabolism in Medulloblastoma
Funke, V. L. E., Walter, C., Melcher, V., Wei, L., Sandmann, S., Hotfilder, M., Varghese, J., Jäger, N., Kool, M., Jones, D., et al. (2023) · Journal of Translational Medicine · doi:10.1186/s12967-023-04211-6 · Cited by 11
“While molecular risk stratification has significantly improved our understanding of MB, it is not yet fully elucidated what drives heterogeneity and gradients, especially among G3/G4 MB [2, 6].”
BackgroundSelf-citation
CREB signaling activity correlates with differentiation and survival in medulloblastoma
Armandari, I., Zomerman, W. W., Plasschaert, S. L. A., Smit, M. J., Martini, T. E. I., Magalhães, E. S. D. C., Hogeling, S. M., Rozema-Huizinga, G. C., Lourens, H. J., Boer, T. M.-D., et al. (2021) · Scientific Reports · doi:10.1038/s41598-021-95381-0 · Cited by 12
Machine Learning–Driven Identification of Molecular Subgroups in Medulloblastoma via Gene Expression Profiling
Hourfar, H., Taklifi, P., Razavi, M., & Khorsand, B. (2025) · Clinical Oncology · doi:10.1016/j.clon.2025.103789 · Cited by 10
Angiogenesis and Lymphangiogenesis in Medulloblastoma Development
Penco-Campillo, M., Pagès, G., & Martial, S. (2023) · Biology · doi:10.3390/biology12071028 · Cited by 9
“For instance, the SHH-I (or SHH-β) and SHH-II (or SHH-γ) subtypes are predominantly found in children under the age of two [12].”
Background
The Current Landscape of Targeted Clinical Trials in Non-WNT/Non-SHH Medulloblastoma
Ghasemi, D. R., Fleischhack, G., Milde, T., & Pajtler, K. W. (2022) · Cancers · doi:10.3390/cancers14030679 · Cited by 11
“[8,12] A significant percentage of genomic alterations in these tumors is detected in genes that are involved in chromatin remodeling, histone modification, enhancer hijacking, and other epigenetic regulatory mechanisms, especially in Gr.”
Background
Cross-species analysis of SHH medulloblastoma models reveals significant inhibitory effects of trametinib on tumor progression
Borlase, S., DeCarlo, A., Coudière-Morrison, L., Liang, L., Porter, C. J., Ramaswamy, V., & Werbowetski‐Ogilvie, T. E. (2023) · Cell Death Discovery · doi:10.1038/s41420-023-01646-0 · Cited by 8
“Medulloblastoma (MB) is the most common malignant primary pediatric brain tumor and is highly heterogeneous [1].”
Mapping naturally presented T cell antigens in medulloblastoma based on integrative multi-omics
Velz, J., Freudenmann, L. K., Medici, G., Dubbelaar, M. L., Mohme, M., Ghasemi, D. R., Scheid, J., Kowalewski, D. J., Patterson, A. B., Zeitlberger, A. M., et al. (2025) · Nature Communications · doi:10.1038/s41467-025-56268-0 · Cited by 10
“Integrating molecular subgroups into the WHO classi ﬁ cation highlights the importance of molecular risk strati ﬁ cation in patients with medulloblastomaandcallsfornewtumorsubtype-speci ﬁ ctherapeutic approaches 7 – 9 .”
Fluid shear stress activates a targetable mechano-metastatic cascade to promote medulloblastoma metastasis
Min, H.-K., Zhao, H., Bahcheli, A. T., Pan, P., Chan, J., Chen, J., Low, E., Zhou, Y., Wang, X., Bajic, S., et al. (2025) · Nature Biomedical Engineering · doi:10.1038/s41551-025-01487-5 · Cited by 11
“MB comprises four subgroups (SHH, WNT, Group 3 and Group 4), each with distinct cells of origin, genetic mutations, epigenetic features and clinical outcomes 28 .”
MYCN-induced nucleolar stress drives an early senescence-like transcriptional program in hTERT-immortalized RPE cells
Zanotti, S., Vanhauwaert, S., Neste, C. V., Olexiouk, V., Laere, J. V., Verschuuren, M., der Meulen, J. V., Mus, L. M., Durinck, K., Tilleman, L., et al. (2021) · Scientific Reports · doi:10.1038/s41598-021-93863-9 · Cited by 9
Immunohistochemical staining of LEF-1 is a useful marker for distinguishing WNT-activated medulloblastomas
Wang, D., Gong, J., Zhang, H., Liu, Y., Sun, N., Hao, X., & Mu, K. (2022) · Diagnostic Pathology · doi:10.1186/s13000-022-01250-3 · Cited by 9
“WNT-activated MB account for about 10% of the total, and most of them are found in children aged 6–10 years which has the highest sensitivity to postoperative chemoradiotherapy, and is the least likely to metastasize [7].”
Background
Review of the impact of molecular analysis on the therapy of medulloblastoma
Sarvode, S., & Gajjar, A. J. (2023) · Pediatric Hematology Oncology Journal · doi:10.1016/j.phoj.2023.05.001 · Cited by 9
Overview and recent advances in the targeting of medulloblastoma cancer stem cells
Paul, M. R., & Zage, P. E. (2021) · Expert Review of Anticancer Therapy · doi:10.1080/14737140.2021.1932472 · Cited by 10
Innovations in Neuro-Oncology
Magge, R., Barbaro, M., & Fine, H. A. (2021) · World Neurosurgery · doi:10.1016/j.wneu.2021.02.093 · Cited by 9
Role of mammalian long non-coding RNAs in normal and neuro oncological disorders
Singh, N. (2021) · Genomics · doi:10.1016/j.ygeno.2021.07.015 · Cited by 9
Subtyping-Directed Precision Treatment Refines Traditional One-Size-Fits-All Therapy for HR+/HER2− Breast Cancer
Zhu, X.-Z., Zhang, H.-Y.-L., Zhou, Y.-F., Chen, Y.-Y., Fu, T., Jin, M.-L., Zhao, Y.-X., Xie, Y.-F., Zeng, X., Jin, X., et al. (2025) · Cancer Research · doi:10.1158/0008-5472.can-24-5002 · Cited by 8
An integrated analysis of three medulloblastoma clinical trials refines risk-stratification approaches for reducing toxicity and improving survival
Smith, K. S., Dhanda, S. K., Billups, C. A., Sioson, E., Lu, C., Peraza, A. Z., Gangwani, K., Li, Y., Li, Q., Lin, T., et al. (2025) · Neuro-Oncology · doi:10.1093/neuonc/noaf250 · Cited by 8
Self-citation
Profiling tumour-infiltrating immune cells in a large paediatric medulloblastoma cohort: a retrospective analysis
Chen, M., Shi, X., Wang, Y., Zhang, J., Guo, J., Guan, X., Sun, Y. L., Wu, W., Li, C., Tian, Y., et al. (2025) · EBioMedicine · doi:10.1016/j.ebiom.2025.106043 · Cited by 8
mTORC1 promotes malignant large cell/anaplastic histology and is a targetable vulnerability in SHH-TP53 mutant medulloblastoma
Conti, V., Cominelli, M., Pieri, V., Gallotti, A. L., Pagano, I., Zanella, M., Mazzoleni, S., Pivetta, F., Patanè, M., Scotti, G. M., et al. (2021) · JCI Insight · doi:10.1172/jci.insight.153462 · Cited by 8
“Although concurrent loss of PTCH1 and TP53 has been found in a few LC/A SHH α human MB (15), our model might not completely reproduce the genetics of the disease, which in most cases is known to be associated with amplification in MYCN and GLI2 (14, 37, 38).”
Influential

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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