ArticleActa neuropathologica2021
TERT promoter mutation and chromosome 6 loss define a high-risk subtype of ependymoma evolving from posterior fossa subependymoma.
Article in Acta neuropathologica, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers.
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Who cites it
27 citing papers in PubMed, 41 citations in OpenAlex.
- AOSNP-ADAPTR resource level-based recommendations on practical diagnostic strategies for ependymomas.Brain pathology (Zurich, Switzerland) · 2026Article
- "Updates on diagnostic and prognostic molecular biomarkers of CNS tumors".Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2026Review
- Spinal low-grade ependymal tumors harboring telomerase reverse transcriptase promoter mutation and chromosome 7 gain with methylation profile of spinal subependymoma.Acta neuropathologica communications · 2026Article
- A brief history of ependymoma.Neuro-oncology · 2026Review
- Genomic and mutational landscape of anaplastic ependymoma: Insights from the AACR Project GENIE Consortium.Biomolecules & biomedicine · 2026Article
- AI-Based Methods in Neuropathology for Diagnosis and Treatment of Brain Tumors.European journal of neurology · 2026Review
- cIMPACT-NOW update 11: Proposal on adaptation of diagnostic criteria for IDH- and H3-wildtype diffuse high-grade gliomas and for posterior fossa ependymal tumors.Brain pathology (Zurich, Switzerland) · 2026Article
- Multi-omics analysis delineates molecular signatures of spinal ependymal tumor.Cellular oncology (Dordrecht, Netherlands) · 2025Article
- Genetic Markers and Mutations in Primary Spinal Cord Tumors and Their Impact on Clinical Management.Brain sciences · 2025Review
- Central Nervous System Tumors in Adolescents and Young Adults.Current neurology and neuroscience reports · 2025Review
- Outcome-associated factors in a molecularly defined cohort of central neurocytoma.Acta neuropathologica · 2025Article
- Molecular Testing for the World Health Organization Classification of Central Nervous System Tumors: A Review.JAMA oncology · 2025Review
- Distinct relapse pattern across molecular ependymoma types.Neuro-oncology · 2025Article
- Histopathologic and molecular profile of gliomas diagnosed in Lagos, Nigeria.Neuro-oncology practice · 2024Article
- Glioma.Nature reviews. Disease primers · 2024Review
- Article
- Clinically relevant molecular hallmarks of PFA ependymomas display intratumoral heterogeneity and correlate with tumor morphology.Acta neuropathologica · 2024Article
- Molecular characteristics and improved survival prediction in a cohort of 2023 ependymomas.Acta neuropathologica · 2024Article
- Ependymoma from Benign to Highly Aggressive Diseases: A Review.Advances and technical standards in neurosurgery · 2024Review
- Adult intracranial ependymoma-relevance of DNA methylation profiling for diagnosis, prognosis, and treatment.Neuro-oncology · 2023Article
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Authors and funding
26 authors at 9 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Subependymomas are benign tumors characteristically encountered in the posterior fossa of adults that show distinct epigenetic profiles assigned to the molecular group "subependymoma, posterior fossa" (PFSE) of the recently established DNA methylation-based classification of central nervous system tumors. In contrast, most posterior fossa ependymomas exhibit a more aggressive biological behavior and are allocated to the molecular subgroups PFA or PFB. A subset of ependymomas shows epigenetic similarities with subependymomas, but the precise biology of these tumors and their potential relationships remain unknown. We therefore set out to characterize epigenetic traits, mutational profiles, and clinical outcomes of 50 posterior fossa ependymal tumors of the PFSE group. On histo-morphology, these tumors comprised 12 ependymomas, 14 subependymomas and 24 tumors with mixed ependymoma-subependymoma morphology. Mixed ependymoma-subependymoma tumors varied in their extent of ependymoma differentiation (2-95%) but consistently exhibited global epigenetic profiles of the PFSE group. Selective methylome analysis of microdissected tumor components revealed CpG signatures in mixed tumors that coalesce with their pure counterparts. Loss of chr6 (20/50 cases), as well as TERT mutations (21/50 cases), were frequent events enriched in tumors with pure ependymoma morphology (p < 0.001) and confined to areas with ependymoma differentiation in mixed tumors. Clinically, pure ependymoma phenotype, chr6 loss, and TERT mutations were associated with shorter progression-free survival (each p < 0.001). In conclusion, our results suggest that subependymomas may acquire genetic and epigenetic changes throughout tumor evolution giving rise to subclones with ependymoma morphology (resulting in mixed tumors) that eventually overpopulate the subependymoma component (pure PFSE ependymomas).
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