ArticleBrain pathology (Zurich, Switzerland)2019
Diagnostics of pediatric supratentorial RELA ependymomas: integration of information from histopathology, genetics, DNA methylation and imaging.
Article in Brain pathology (Zurich, Switzerland), 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 46 papers, 2 of them syntheses that pooled it.
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Who cites it
46 citing papers in PubMed, 2 syntheses or guidelines pooled it, 119 citations in OpenAlex.
- DNA Methylation-Based Classification for Central Nervous System Tumours: A Health Technology Assessment.Ontario health technology assessment series · 2025Pooled it
- Pediatric methylation class HGNET-MN1: unresolved issues with terminology and grading.Acta neuropathologica communications · 2019Pooled it
- Supratentorial ependymoma: a comprehensive review of molecular classification, management strategies, and clinical outcomes (Part II of pediatric ependymomas across compartments).Journal of neuro-oncology · 2026Review
- A Nationwide Central Diagnosis for Pediatric CNS Tumors in Japan: The JCCG Brain Tumor and Pathology Committees.Cancer science · 2026Article
- Feasibility of long-read nanopore sequencing for methylation-based classification of posterior fossa ependymomas.Brain tumor pathology · 2026Article
- Molecular and clinical stratification of astroblastomas: Three distinct fusion-defined groups informing risk-adapted treatment strategies.Neuro-oncology · 2026Article
- Developing an advanced risk stratification model for pediatric intracranial ependymoma based on the prospective trial E-HIT2000 and subsequent registries.Neuro-oncology · 2026Article
- Review
- A novel TEAD1::NCOA2 fusion that potentially expands the concept of supratentorial ependymoma, YAP1 fusion-positive.Acta neuropathologica · 2025Article
- Biglycan-driven risk stratification in ZFTA-RELA fusion supratentorial ependymomas through transcriptome profiling.Acta neuropathologica communications · 2025Article
- Optimizing outcomes in intracranial ependymoma: a contemporary review.Frontiers in oncology · 2025Review
- Ependymal Tumors: Overview of the Recent World Health Organization Histopathologic and Genetic Updates with an Imaging Characteristic.AJNR. American journal of neuroradiology · 2024Review
- Metabolism: an important player in glioma survival and development.Discover oncology · 2024Review
- CNS tumors with PLAGL1-fusion: beyond ZFTA and YAP1 in the genetic spectrum of supratentorial ependymomas.Acta neuropathologica communications · 2024Article
- Misdiagnosis of synovial sarcoma - cellular myofibroma withWorld journal of clinical cases · 2024Article
- Insights into brain tumor diagnosis: exploringFrontiers in neurology · 2024Review
- Pediatric CNS tumors and 2021 WHO classification: what do oncologists need from pathologists?Frontiers in molecular neuroscience · 2024Review
- Optimizing biomarkers for accurate ependymoma diagnosis, prognostication, and stratification within International Clinical Trials: A BIOMECA study.Neuro-oncology · 2023Article
- Review and update on pediatric ependymoma.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2023Review
- Precision based approach to tailoring radiotherapy in the multidisciplinary management of pediatric central nervous system tumors.Journal of the National Cancer Center · 2023Review
Corrections and comments
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Authors and funding
17 authors at 7 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Ependymoma with RELA fusion has been defined as a novel entity of the revised World Health Organization 2016 classification of tumors of the central nervous system (CNS), characterized by fusion transcripts of the RELA gene and consequent pathological activation of the NFkB pathway. These tumors represent the majority of supratentorial ependymomas in children. The validation of diagnostic tools to identify this clinically relevant ependymoma entity is essential. Here, we have used interphase fluorescent in situ hybridization (FISH) for C11orf95 and RELA, immunohistochemistry (IHC) for p65-RelA and the recently developed DNA methylation-based classification besides conventional histopathology, and compared the precision of the methods in 40 supratentorial pediatric brain tumors diagnosed as ependymomas in the past years. Reverse transcription PCR (RT-PCR) and RNA sequencing were performed to explore discordant cases. Furthermore, we integrated imaging and clinical features as additional layers of information. The concordance between nuclear RelA expression by IHC and RELA FISH was 100%. Concordance between IHC and DNA methylation profiling, and between FISH and DNA methylation profiling was also high (96.4% and 95.2%, respectively). Thirty-four out of 40 (85%) cases were confirmed by integrated diagnoses as ependymal tumors, including 22 RELA-fused ependymomas (71% of ependymal tumors), two YAP1-fused ependymomas (6%), six non-RELA/non-YAP1 ependymomas (18%) and four ependymal/subependymal mixed tumors (12%). Ependymal/subependymal mixed tumors had an excellent clinical outcome despite the presence of histopathological signs of malignancy, suggesting that these tumors should not be diagnosed as classic ependymomas. DNA methylation profiling helped in the differential diagnosis of RELA-fused ependymomas. IHC and FISH, which are available in the majority of pathology laboratories, are valuable tools to identify RELA-fused ependymomas.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.