ArticleNeuro-oncology2019
DNA methylation profiling is a method of choice for molecular verification of pediatric WNT-activated medulloblastomas.
Article in Neuro-oncology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.
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Who cites it
23 citing papers in PubMed, 45 citations in OpenAlex.
- Molecular and clinical features of a Japanese medulloblastoma cohort: Subgroup-specific prognostic stratification using economical/accessible diagnostic methods.Brain pathology (Zurich, Switzerland) · 2026Article
- Article
- Development and Clinical Validation of Molecular Subgrouping in Medulloblastoma by Targeted Methylation Sequencing.Asian Pacific journal of cancer prevention : APJCP · 2025Article
- Role of epigenetics in paediatric cancer pathogenesis & drug resistance.British journal of cancer · 2025Review
- Overcoming Treatment Resistance in Medulloblastoma: Underlying Mechanisms and Potential Strategies.Cancers · 2024Review
- Evolution of neurosurgical advances and nuances in medulloblastoma therapy.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2024Review
- Molecular diagnostic tools for the World Health Organization (WHO) 2021 classification of gliomas, glioneuronal and neuronal tumors; an EANO guideline.Neuro-oncology · 2023Article
- High frequency of WNT-activated medulloblastomas withFrontiers in oncology · 2023Article
- MBMethPred: a computational framework for the accurate classification of childhood medulloblastoma subgroups using data integration and AI-based approaches.Frontiers in genetics · 2023Article
- Genetic alterations of TP53 and OTX2 indicate increased risk of relapse in WNT medulloblastomas.Acta neuropathologica · 2022Article
- Molecular subgrouping of medulloblastoma in pediatric population using the NanoString assay and comparison with immunohistochemistry methods.BMC cancer · 2022Article
- Article
- New Developments in the Pathogenesis, Therapeutic Targeting, and Treatment of Pediatric Medulloblastoma.Cancers · 2022Review
- Recurrent Wnt medulloblastoma treated with marrow-ablative chemotherapy and autologous hematopoietic progenitor cell rescue: a dual case report and review of the literature.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2022Review
- Relapsed Medulloblastoma in Pre-Irradiated Patients: Current Practice for Diagnostics and Treatment.Cancers · 2021Review
- Review
- Medulloblastoma epigenetics and the path to clinical innovation.Journal of neuro-oncology · 2020Review
- Impact of the 2016 World Health Organization Classification of Tumours of the Central Nervous System: an Irish experience.Irish journal of medical science · 2020Review
- Pattern of Relapse and Treatment Response in WNT-Activated Medulloblastoma.Cell reports. Medicine · 2020Article
- The clinical treatment and outcome of cerebellopontine angle medulloblastoma: a retrospective study of 15 cases.Scientific reports · 2020Article
Corrections and comments
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Authors and funding
15 authors at 7 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundWingless-activated medulloblastoma (WNT MB) represents a well-characterized molecular variant accounting for 10-15% of all MB and is associated with a favorable clinical outcome. Patients with localized WNT MBs could benefit from de-intensification of combined treatment, which would require an accurate diagnosis of these tumors. However, despite the presence of molecular features related with a WNT MB signature (nuclear ß-catenin immunoexpression, CTNNB1 mutation, and monosomy 6), a prompt and reliable diagnostic verification of these tumors is not yet feasible.
methodsIn the current study, we analyzed 78 samples of WNT MB treated in a single institute through genome-wide DNA methylation and targeted next generation sequencing to elaborate an optimal method for WNT MB molecular verification.
resultsWe found that DNA methylation profiling discloses significant advantages for molecular diagnostic of WNT MB. All other "routine" methods applied, such as ß-catenin immunohistochemistry, CTNNB1 mutation analysis, and detection of monosomy 6, failed to identify all WNT MB cases. Survival analysis revealed that application of a reduced radiotherapy protocol for WNT MB treatment had no influence on patients' survival. Only one patient died due to local relapse but recurrent tumor was pathologically and molecularly diagnosed as a secondary glioblastoma.
conclusionsDNA methylation analysis should be considered as a method of choice for further clinically relevant stratification of WNT MB and for correct diagnosis of the recurrent tumors. WNT MB patients with localized disease could benefit from treatment de-intensification.
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