ArticleNeuro-oncology2021
Ultra high-risk PFA ependymoma is characterized by loss of chromosome 6q.
Article in Neuro-oncology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 55 papers, 1 of them a synthesis that pooled it.
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Who cites it
55 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Impact of molecular subtypes on postoperative hydrocephalus following resection of posterior fossa medulloblastoma and ependymoma in children: A systematic review and meta-analysis.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2026Pooled it
- Chromosome 6q mediated loss of LATS1 tumour suppression as a targetable mechanism of ultra-high-risk posterior fossa A ependymoma.Acta neuropathologica · 2026Article
- Posterior fossa ependymoma: a comprehensive review of molecular classification, management guidelines, and clinical outcomes (Part I of ependymomas across compartments).Journal of neuro-oncology · 2026Review
- "Updates on diagnostic and prognostic molecular biomarkers of CNS tumors".Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2026Review
- Pediatric ependymoma in the molecular era: real-world experience with diagnostic correlation and long-term clinical outcomes.Journal of neuro-oncology · 2026Article
- CNS tumor type prevalence according to age group: An analysis of 21 000 cases confirmed by methylation profiling, with a focus on adolescents and young adults.Neuro-oncology · 2026Article
- A brief history of ependymoma.Neuro-oncology · 2026Review
- Article
- Article
- Developing an advanced risk stratification model for pediatric intracranial ependymoma based on the prospective trial E-HIT2000 and subsequent registries.Neuro-oncology · 2026Article
- Thoracic metastasis of a pediatric posterior fossa group A ependymoma: a rare case and literature review.World journal of pediatric surgery · 2026Article
- Report from the National Pediatric Cancer Foundation - infantile glioma and other non-embryonal central nervous system tumors: evolving molecular advances and current treatment landscape.Frontiers in oncology · 2026Review
- Use of DNA Methylation Profiling as a Molecular Classification Tool for Paediatric Central Nervous System Tumours: A Middle-Income Country Population-Based Study.Neuropathology and applied neurobiology · 2025Article
- Central Nervous System Tumors in Adolescents and Young Adults.Current neurology and neuroscience reports · 2025Review
- Individualized therapeutic approaches for relapsed and refractory pediatric ependymomas: a single institution experience.Journal of neuro-oncology · 2025Article
- Pediatric CNS tumors: Overview and treatment paradigms.Seminars in pediatric neurology · 2025Review
- Advances in molecular prognostication and treatments in ependymoma.Journal of neuro-oncology · 2025Review
- 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
- Optimizing outcomes in intracranial ependymoma: a contemporary review.Frontiers in oncology · 2025Review
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Authors and funding
24 authors.
Funding
Abstract
backgroundWithin PF-EPN-A, 1q gain is a marker of poor prognosis, however, it is unclear if within PF-EPN-A additional cytogenetic events exist which can refine risk stratification.
methodsFive independent non-overlapping cohorts of PF-EPN-A were analyzed applying genome-wide methylation arrays for chromosomal and clinical variables predictive of survival.
resultsAcross all cohorts, 663 PF-EPN-A were identified. The most common broad copy number event was 1q gain (18.9%), followed by 6q loss (8.6%), 9p gain (6.5%), and 22q loss (6.8%). Within 1q gain tumors, there was significant enrichment for 6q loss (17.7%), 10q loss (16.9%), and 16q loss (15.3%). The 5-year progression-free survival (PFS) was strikingly worse in those patients with 6q loss, with a 5-year PFS of 50% (95% CI 45%-55%) for balanced tumors, compared with 32% (95% CI 24%-44%) for 1q gain only, 7.3% (95% CI 2.0%-27%) for 6q loss only and 0 for both 1q gain and 6q loss (P = 1.65 × 10-13). After accounting for treatment, 6q loss remained the most significant independent predictor of survival in PF-EPN-A but is not in PF-EPN-B. Distant relapses were more common in 1q gain irrespective of 6q loss. RNA sequencing comparing 6q loss to 6q balanced PF-EPN-A suggests that 6q loss forms a biologically distinct group.
conclusionsWe have identified an ultra high-risk PF-EPN-A ependymoma subgroup, which can be reliably ascertained using cytogenetic markers in routine clinical use. A change in treatment paradigm is urgently needed for this particular subset of PF-EPN-A where novel therapies should be prioritized for upfront therapy.
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