ArticleActa neuropathologica2019
MYCN amplification drives an aggressive form of spinal ependymoma.
Article in Acta neuropathologica, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 114 papers, 1 of them a synthesis that pooled it.
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Who cites it
114 citing papers in PubMed, 1 synthesis or guideline pooled it, 170 citations in OpenAlex.
- cIMPACT-NOW update 6: new entity and diagnostic principle recommendations of the cIMPACT-Utrecht meeting on future CNS tumor classification and grading.Brain pathology (Zurich, Switzerland) · 2020Guideline
- A phase II study of dose-dense temozolomide and lapatinib for recurrent low-grade and anaplastic supratentorial, infratentorial, and spinal cord ependymoma.Neuro-oncology · 2021Trial
- [Intramedullary spinal cord tumors : MRI diagnosis and differential diagnosis].Radiologie (Heidelberg, Germany) · 2026Review
- AOSNP-ADAPTR resource level-based recommendations on practical diagnostic strategies for ependymomas.Brain pathology (Zurich, Switzerland) · 2026Article
- Spinal ependymoma: a comprehensive review of molecular classification, management guidelines, and clinical outcomes with a focus on the pediatric population (Part III of ependymomas across compartments).Journal of neuro-oncology · 2026Review
- Long-term outcomes after adjuvant radiotherapy in adult spinal ependymomas: a multicenter study by the trod Neuro-Oncology research group (07 - 005).Journal of neuro-oncology · 2026Article
- Pediatric ependymoma in the molecular era: real-world experience with diagnostic correlation and long-term clinical outcomes.Journal of neuro-oncology · 2026Article
- Definition of parameters and thresholds to detect MYCN amplification in retinoblastomas.Virchows Archiv : an international journal of pathology · 2026Article
- Outcomes after surgical resection of spinal ependymomas: extent of resection, imaging phenotype, and survival.European spine journal : official publication of the European Spine Society, the European Spinal Deformity Society, and the European Section of the Cervical Spine Research Society · 2026Article
- Cancer Heterogeneity and Cancer Cell Plasticity: Molecular Mechanisms and Precision Therapy.MedComm · 2026Review
- Clinical responses to trastuzumab deruxtecan in molecularly defined ependymoma.NPJ precision oncology · 2026Article
- A rare case of intradural extramedullary anaplastic ependymoma: a 35-month survival update following resection and adjuvant proton beam radiation therapy. Illustrative case.Journal of neurosurgery. Case lessons · 2026Article
- A brief history of ependymoma.Neuro-oncology · 2026Review
- Ependymoma group-specific blood-brain barrier differences uncovered by a multi-omics approach.Scientific reports · 2026Article
- Detection of Copy-Number Variations in CNS Tumours From Off-Target Reads of Hybrid-Capture Sequencing.Neuropathology and applied neurobiology · 2026Article
- Thoracic metastasis of a pediatric posterior fossa group A ependymoma: a rare case and literature review.World journal of pediatric surgery · 2026Article
- Case Report: Postpartum diagnosis and microsurgical management of a cervicothoracic intramedullary spinal ependymoma clinically manifesting during the third trimester of pregnancy.Frontiers in oncology · 2026Article
- Single-nucleus transcriptomics of spinal ependymoma subtypes recognizes intratumoral heterogeneity.Neuro-oncology · 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
54 more citing papers are in PubMed but not listed here.
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Authors and funding
30 authors at 11 institutions in 5 countries.
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Abstract
Spinal ependymal tumors form a histologically and molecularly heterogeneous group of tumors with generally good prognosis. However, their treatment can be challenging if infiltration of the spinal cord or dissemination throughout the central nervous system (CNS) occurs and, in these cases, clinical outcome remains poor. Here, we describe a new and relatively rare subgroup of spinal ependymal tumors identified using DNA methylation profiling that is distinct from other molecular subgroups of ependymoma. Copy number variation plots derived from DNA methylation arrays showed MYCN amplification as a characteristic genetic alteration in all cases of our cohort (n = 13), which was subsequently validated using fluorescence in situ hybridization. The histological diagnosis was anaplastic ependymoma (WHO Grade III) in ten cases and classic ependymoma (WHO Grade II) in three cases. Histological re-evaluation in five primary tumors and seven relapses showed characteristic histological features of ependymoma, namely pseudorosettes, GFAP- and EMA positivity. Electron microscopy revealed cilia, complex intercellular junctions and intermediate filaments in a representative sample. Taking these findings into account, we suggest to designate this molecular subgroup spinal ependymoma with MYCN amplification, SP-EPN-MYCN. SP-EPN-MYCN tumors showed distinct growth patterns with intradural, extramedullary localization mostly within the thoracic and cervical spine, diffuse leptomeningeal spread throughout the whole CNS and infiltrative invasion of the spinal cord. Dissemination was observed in 100% of cases. Despite high-intensity treatment, SP-EPN-MYCN showed significantly worse median progression free survival (PFS) (17 months) and median overall survival (OS) (87 months) than all other previously described molecular spinal ependymoma subgroups. OS and PFS were similar to supratentorial ependymoma with RELA-fusion (ST-EPN-RELA) and posterior fossa ependymoma A (PF-EPN-A), further highlighting the aggressiveness of this distinct new subgroup. We, therefore, propose to establish SP-EPN-MYCN as a new molecular subgroup in ependymoma and advocate for testing newly diagnosed spinal ependymal tumors for MYCN amplification.
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