ArticleJournal of neuro-oncology2018
C11orf95-RELA fusions and upregulated NF-KB signalling characterise a subset of aggressive supratentorial ependymomas that express L1CAM and nestin.
Article in Journal of neuro-oncology, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers.
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Who cites it
29 citing papers in PubMed, 52 citations in OpenAlex.
- The role of clinical factors and immunocheckpoint molecules in the prognosis of patients with supratentorial extraventricular ependymoma: a single-center retrospective study.Journal of cancer research and clinical oncology · 2021Trial
- Ependymoma-like tumor with mesenchymal differentiation harboring ZFTA::NCOA2 fusion: a case report.Brain tumor pathology · 2026Article
- A brief history of ependymoma.Neuro-oncology · 2026Review
- Developing an advanced risk stratification model for pediatric intracranial ependymoma based on the prospective trial E-HIT2000 and subsequent registries.Neuro-oncology · 2026Article
- Near-Infrared Photoimmunotherapy in Brain Tumors-An Unexplored Frontier.Pharmaceuticals (Basel, Switzerland) · 2025Review
- Beyond the expected: a supratentorial ependymoma imitating a meningioma.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2025Article
- Biglycan-driven risk stratification in ZFTA-RELA fusion supratentorial ependymomas through transcriptome profiling.Acta neuropathologica communications · 2025Article
- Ependymal Tumors: Overview of the Recent World Health Organization Histopathologic and Genetic Updates with an Imaging Characteristic.AJNR. American journal of neuroradiology · 2024Review
- MYCN immunohistochemistry as surrogate marker for MYCN-amplified spinal ependymomas.Human cell · 2024Article
- RFX2 promotes tumor cell stemness through epigenetic regulation of PAF1 in spinal ependymoma.Journal of neuro-oncology · 2023Article
- ZFTA-fused supratentorial ependymoma with a novel fusion partner, DUX4.Journal of neuropathology and experimental neurology · 2023Article
- Activation of Hedgehog signaling by the oncogenic RELA fusion reveals a primary cilia-dependent vulnerability in supratentorial ependymoma.Neuro-oncology · 2023Article
- Radiation-Induced Meningiomas.Advances in experimental medicine and biology · 2023Article
- The biology of ependymomas and emerging novel therapies.Nature reviews. Cancer · 2022Review
- The oncogenic fusion landscape in pediatric CNS neoplasms.Acta neuropathologica · 2022Review
- Supratentorial cortical ependymoma: A systematic literature review and case illustration.Rare tumors · 2022Review
- Supratentorial ependymoma, zinc finger translocation-associated fusion positive, with extensive synaptophysin immunoreactivity arising from malignant transformation of clear cell ependymoma: A case report.Surgical neurology international · 2022Article
- Molecular subtyping of ependymoma and prognostic impact of Ki-67.Brain tumor pathology · 2022Article
- Molecular Stratification of Childhood Ependymomas as a Basis for Personalized Diagnostics and Treatment.Cancers · 2021Review
- A coordinated approach for the assessment of molecular subgroups in pediatric ependymomas using low-cost methods.Journal of molecular medicine (Berlin, Germany) · 2021Article
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Authors and funding
9 authors at 2 institutions in 1 country.
Funding
Abstract
Ependymomas (EPN) show site specific genetic alterations and a recent DNA methylation profiling study identified nine molecular subgroups. C11orf95-RELA and YAP1 fusions characterise the RELA and YAP1 molecular subgroups, respectively, of supratentorial (ST)-EPNs. Current guidelines recommend molecular subgrouping over histological grade for accurate prognostication. Clinicopathological features of ST-EPNs in correlation with C11orf95-RELA and YAP1 fusions have been assessed in only few studies. We aimed to study these fusions in EPNs, and identify diagnostic and prognostic markers. qRT-PCR and Sanger Sequencing for the detection of C11orf95-RELA, YAP1-MAMLD1 and YAP1-FAM118B fusion transcripts, gene expression analysis for NFKB1, and immunohistochemistry for p53, MIB-1, nestin, VEGF, and L1CAM were performed. 88 EPNs (10-Grade I and 78-Grade II/III) from all sites were included. RELA fusions were unique to Grade II/III ST-EPNs, detected in 81.4% (22/27) and 18.5% (5/27) of pediatric and adult ST-EPNs respectively. ST-EPNs harbouring RELA fusions showed frequent grade III histology (81.5%), clear cell morphology (70.3%), upregulated NFKB1 expression, MIB-1 labelling indices (LI) ≥ 10% (77.8%), and immunopositivity for nestin (95.7%), VEGF (72%), L1CAM (79%), and p53 (64%). Presence of RELA fusions, L1CAM immunopositivity and MIB-1 LI ≥ 10% associated with poor outcome. L1CAM showed 81% concordance with RELA fusions. YAP1-MAMLD1 fusion was identified in a single RELA fusion negative adult anaplastic ST-EPN. RELA fusions are frequent in ST-EPNs and associate with poor outcome. L1CAM is a surrogate immunohistochemical marker. RELA fusion positive ST-EPNs strongly express nestin indicating increased stemness. Further evaluation of the interactions between NFKB and stem cell pathways is warranted.
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