Raras
Buscar doenças, sintomas, genes...
Ependimona
ORPHA:251636CID-10 · D43.2DOENÇA RARA

É um tumor de crescimento lento, Grau II da OMS (Organização Mundial da Saúde), que afeta crianças e adultos jovens. Geralmente está localizado dentro dos ventrículos cerebrais (espaços cheios de líquido no cérebro). É o tipo mais comum de tumor ependimário. Frequentemente causa sintomas ao bloquear as vias do líquido cefalorraquidiano (o líquido que envolve o cérebro e a medula espinhal). As características principais observadas ao microscópio incluem pseudorrosetas perivasculares e rosetas ependimárias.

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Introdução

O que você precisa saber de cara

📋

É um tumor de crescimento lento, Grau II da OMS (Organização Mundial da Saúde), que afeta crianças e adultos jovens. Geralmente está localizado dentro dos ventrículos cerebrais (espaços cheios de líquido no cérebro). É o tipo mais comum de tumor ependimário. Frequentemente causa sintomas ao bloquear as vias do líquido cefalorraquidiano (o líquido que envolve o cérebro e a medula espinhal). As características principais observadas ao microscópio incluem pseudorrosetas perivasculares e rosetas ependimárias.

Pesquisas ativas
34 ensaios
313 total registrados no ClinicalTrials.gov
Publicações científicas
5.355 artigos
Último publicado: 2026

Escala de raridade

CLASSIFICAÇÃO ORPHANET · BRASIL 2024
Unknown
Ultra-rara
<1/50k
Muito rara
1/20k
Rara
1/10k
Pouco freq.
1/5k
Incomum
1/2k
Prevalência
0.0
Europe
Início
All ages
🏥
SUS: Sem cobertura SUSScore: 0%
CID-10: D43.2
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Entender a doença

Do básico ao detalhe, leia no seu ritmo

Preparando trilha educativa...

Sinais e sintomas

O que aparece no corpo e com que frequência cada sintoma acontece

Partes do corpo afetadas

🫃
Digestivo
2 sintomas
💪
Músculos
1 sintomas
🧠
Neurológico
1 sintomas
🫁
Pulmão
1 sintomas

+ 11 sintomas em outras categorias

Características mais comuns

100%prev.
Ependimoma
55%prev.
Morfologia celular anormal
Frequente (79-30%)
55%prev.
Enxaqueca
Frequente (79-30%)
55%prev.
Dor
Frequente (79-30%)
17%prev.
Fraqueza muscular distal
Ocasional (29-5%)
17%prev.
Convulsão
Ocasional (29-5%)
16sintomas
Muito frequente (1)
Frequente (3)
Ocasional (7)
Muito raro (4)
Sem dados (1)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 16 características clínicas mais associadas, ordenadas por frequência.

EpendimomaEpendymoma
Muito frequente100%
Morfologia celular anormalAbnormal cell morphology
Frequente (79-30%)55%
EnxaquecaMigraine
Frequente (79-30%)55%
DorPain
Frequente (79-30%)55%
Fraqueza muscular distalDistal muscle weakness
Ocasional (29-5%)17%

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Total histórico5.355PubMed
Últimos 10 anos200publicações
Pico2025128 papers
Linha do tempo
2026Hoje · 2026🧪 1966Primeiro ensaio clínico📈 2025Ano de pico
Publicações por ano (últimos 10 anos)

Encontrou um erro ou informação desatualizada? Sugira uma correção →

Genética e causas

O que está alterado no DNA e como passa nas famílias

Genes associados

1 gene identificado com associação a esta condição. Padrão de herança: Not applicable.

ZFTAZinc finger translocation-associated proteinPart of a fusion gene inTolerante
LOCALIZAÇÃO

OUTRAS DOENÇAS (2)
ependymomaRELA fusion-positive ependymoma
HGNC:28449UniProt:C9JLR9

Medicamentos aprovados (FDA)

1 medicamento encontrado nos registros da FDA americana.

💊 Carmustine (CARMUSTINE)
Ver no DailyMed/FDA

Variantes genéticas (ClinVar)

8 variantes patogênicas registradas no ClinVar.

🧬 ZFTA: GRCh37/hg19 11q12.1-13.3(chr11:56895955-69295402)x3 ()
🧬 ZFTA: GRCh37/hg19 11p11.12-q13.1(chr11:50398499-63924462)x3 ()
🧬 ZFTA: GRCh37/hg19 11q12.2-13.5(chr11:59923608-76272324)x3 ()
🧬 ZFTA: GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3 ()
🧬 ZFTA: Single allele ()
Ver todas no ClinVar

Classificação de variantes (ClinVar)

Distribuição de 9 variantes classificadas pelo ClinVar.

6
3
Patogênica (66.7%)
VUS (33.3%)
VARIANTES MAIS SIGNIFICATIVAS
ARID1A: NM_006015.6(ARID1A):c.6472C>T (p.Arg2158Ter) [Likely pathogenic]
RET: NM_020975.6(RET):c.1202G>A (p.Ser401Asn) [Conflicting classifications of pathogenicity]
RAD51D: NM_002878.4(RAD51D):c.505G>A (p.Val169Met) [Uncertain significance]
KMT2D: NM_003482.4(KMT2D):c.805C>T (p.Gln269Ter) []
KMT2C: NM_170606.3(KMT2C):c.596del (p.Arg199fs) []

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

Carregando...

Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

Pipeline de tratamentos
Pipeline regulatório — de medicamentos já aprovados a drogas em pesquisa exploratória.
2Fase 27
1Fase 110
·Pré-clínico3
Medicamentos catalogadosEnsaios clínicos· 0 medicamentos · 20 ensaios
Carregando informações de tratamento...

Onde tratar no SUS

Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)

🇧🇷 Atendimento SUS — Ependimona

🗺️

Selecione um estado ou use sua localização para ver resultados.

Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.

Pesquisa ativa

Ensaios clínicos abertos e novidades científicas recentes

🟢 Recrutando agora

11 pesquisas recrutando participantes. Converse com seu médico sobre a possibilidade de participar.

Outros ensaios clínicos

313 ensaios clínicos encontrados, 34 ativos.

Distribuição por fase
Ver todos no ClinicalTrials.gov
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Publicações mais relevantes

Timeline de publicações
2.349 papers (10 anos)

Mostrando amostra de 200 publicações de um total de 2.349

#1

Multidimensional profiling of heterogeneity in supratentorial ependymomas.

Nature2026 Mar 11

Supratentorial ependymomas are aggressive childhood brain cancers that retain features of neurodevelopmental cell types1 and segregate into molecularly and clinically distinct subgroups2,3, suggesting different developmental roots. The developmental signatures, as well as microenvironmental factors, underlying aberrant cellular transformation and behaviour across each supratentorial ependymoma subgroup are unclear. Here we integrated single-cell and spatial transcriptomics, as well as in vitro and in vivo live-cell imaging, to define supratentorial ependymoma cell states, spatial organization and dynamic behaviour within the neural microenvironment. We find that individual tumour subgroups have two distinct progenitor-like cell states-neuroepithelial-like and embryonic-like-that are reminiscent of early human brain development and diverge in the extent of their neuronal or ependymal differentiation. We further identify several modes of spatial organization of these tumours, including a high-order architecture that is influenced by mesenchymal and hypoxia signatures, and local neighbourhood structures. Finally, we identify a role for brain-resident cells in shifting supratentorial ependymoma cellular heterogeneity towards neuronal-like cells that co-opt immature neuronal morphology and migratory mechanisms, and a subset of neuroepithelial-like cells that are both proliferative and highly migratory. Collectively, these findings provide a multidimensional framework to integrate transcriptional and phenotypic characterization of tumour heterogeneity in supratentorial ependymoma and its potential clinical implications.

#2

Ventriculoperitoneal shunt-associated cystic lesion with perilesional cerebral edema 45 years after placement for posterior fossa tumor: A case report.

Surgical neurology international2026

Ventriculoperitoneal (VP) shunts are widely used to treat hydrocephalus in children with posterior fossa tumors. While many patients gain shunt independence after tumor control, indwelling shunts are often not removed. Shunt-related intracranial cysts are extremely rare and typically develop along the intracranial catheter tract within days to several years after shunt insertion; to date, the longest reported interval has been 19 years. Here, we report a case a cystic lesion with marked perilesional edema developing 45 years after childhood VP shunt placement for tumor-related hydrocephalus. We report the case of a 58-year-old man who presented with acute severe left-sided hemiparesis. At the age of 13 years, he underwent resection of a posterior fossa ependymoma, VP shunt placement, and whole-brain radiotherapy. Neuroimaging revealed a large right frontal low-density lesion with vasogenic edema and a cystic cavity surrounding the intracranial shunt catheter. Retrospective review of magnetic resonance imaging performed 3 months earlier showed a smaller preexisting cyst at the same site. The shunt catheter was removed without resistance, and the membranous material adhering to the distal tip caused partial intraluminal obstruction. Postoperatively, the hemiparesis improved markedly; follow-up imaging demonstrated resolution of the edema and reduction in the cyst size. As hydrocephalus did not recur, shunt reinsertion was not required. This case represents the longest latency reported in the literature for VP shunt-related intracranial cyst formation, occurring 45 years after shunt implantation, exceeding the previously reported maximum interval of 19 years. The acute symptoms closely resemble stroke or infection, underscoring the diagnostic challenge. Clinicians should be vigilant of such delayed complications even decades after shunt placement.

#3

Modeling pediatric brain tumors with human stem cells.

Frontiers in cellular neuroscience2026

With recent advances in stem cell technology, there has been an expansion of human stem and progenitor cell models of pediatric brain tumors, including use of human pluripotent and embryonic stem cells both in organoid cultures and following xenotransplantation in mice. In this review, we discuss the current approaches to modelling pediatric brain cancers using stem cells. While brain tumors describe a broad set of disease entities, we focus on glioma, medulloblastoma and ependymoma, as these are not only the most common malignant brain tumor types but also have the most stem cell models currently available. We examine human stem cell-based modeling approaches and discuss the biological questions that are being addressed using these state-of-the-art tools. Specifically, we focus on the unique advantage of using these cells to understand the functional consequences of gene mutations and their downstream growth-promoting pathways within the cell in a human context. These approaches are needed to ascertain the key players that are functionally relevant in the initiation and propagation of these tumors at the gene and protein level and to identify new drug targets. Moreover, human stem cell-based modeling approaches may complement studies in genetically engineered mouse models to address fundamental questions in tumor biology, particularly the early stages of tumorigenesis.

#4

A systems approach identifies MERTK as a therapeutic vulnerability in ZFTA-RELA-driven ependymomas.

Proceedings of the National Academy of Sciences of the United States of America2026 Feb 17

Ependymomas (EPN) are rare central nervous system tumors that account for approximately 10% of intracranial tumors in children and 4% in adults. Despite their clinical and molecular heterogeneity, spanning supratentorial, posterior fossa, and spinal subtypes, treatment remains limited to surgery and radiotherapy, with chemotherapy offering minimal benefit. Here, we performed transcriptomic analysis of 370 human ependymoma samples and identified two distinct molecular subgroups: EPN-E1 and EPN-E2. The EPN-E1 cluster is enriched for supratentorial tumors harboring ZFTA-RELA fusions (ZFTA-RELAfus), which occur in over 70% of cases and are associated with poor prognosis. To identify targeted therapies for this aggressive subtype, we validated a ZFTA-RELAfus mouse model that recapitulates the human EPN-E1 transcriptome and used it for target discovery. Through Kinome Regularization, a machine learning-driven polypharmacology approach, we identified MERTK as a critical regulator of tumor cell viability. Genetic depletion or pharmacologic inhibition of Mertk reduced cell growth ex vivo, and treatment with a clinical-grade MERTK inhibitor significantly suppressed tumor proliferation in vivo. Both human EPN-E1 tumors and ZFTA-RELAfus mouse tumors exhibited elevated expression of MERTK and its ligand GAS6, and MERTK inhibition led to suppression of pro-survival signaling pathways including MEK/ERK (Mitogen-Activated Protein Kinase Kinase/Extracellular Signal-Regulated Kinase) and PI3K/AKT (Phosphoinositide 3-Kinase/Protein Kinase B). Notably, over 80% of genes upregulated in ZFTA-RELAfus tumors were downregulated following MERTK inhibition, indicating a strong dependency on this pathway for tumor maintenance. These findings define a signaling vulnerability in ZFTA-RELA-driven ependymomas and support the clinical development of MERTK-targeted therapies for patients with the high-risk EPN-E1 subtype.

#5

Thoracic tanycytic ependymoma with anaplastic progression after subtotal resection and repeated radiotherapy: A 17-year follow-up case report.

Surgical neurology international2026

Tanycytic ependymomas (TEs) are rare spindle-cell variants of spinal ependymomas. They are classified as central nervous system World Health Organization grade II, and they usually behave like ordinary spinal ependymomas especially following gross total resection (GTR). A 43-year-old male presented with a progressive paraparesis and sensory level at T4 (pain/ temperature loss). The magnetic resonance imaging showed an intradural intramedullary tumor extending from Th2 to Th5. Only a subtotal resection was performed as a central portion was tightly adherent to the spinal cord itself. Histology revealed a predominantly grade II TE; the main component showed a low proliferative index, whereas the anaplastic focus had a markedly elevated index. Despite craniospinal tomotherapy (36 Gy), tumor recurred 6 years 7 months later. Local tomotherapy was repeated 3 times (41.4, 40, and 30 Gy), but each treatment produced only transient shrinkage followed by regrowth at shorter intervals. Further irradiation was contraindicated due to cumulative dose constraints. Seventeen years after the first surgery, rapid enlargement over 3 months caused paraplegia and bladder-bowel dysfunction. Reoperation achieved GTR, and at this point the pathology showed a diffuse anaplastic ependymoma; the MR 6 months later showed no tumor recurrence. Although TE is usually indolent, it can harbor an anaplastic subclone and progress to malignancy after subtotal resection. Long-term surveillance and early reoperation when regrowth is first observed should be considered and is likely due to the development of anaplastic features.

Publicações recentes

Ver todas no PubMed

📚 EuropePMC2.727 artigos no totalmostrando 198

2026

Reverse brain herniation following CSF diversion in a 2-year-old child-case report and review of literature.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
2026

Discovery of genetic susceptibility variants in pediatric and adult ependymoma.

Neuro-oncology advances
2026

Development and internal validation of a Cox-based nomogram for predicting cancer-specific survival in central nervous system ependymoma: a population-based study.

Journal of the Formosan Medical Association = Taiwan yi zhi
2026

Is maternal smoking during pregnancy associated with childhood brain tumors? A systematic literature review.

Toxicology letters
2026

Case Report: Molecular diagnostics and clinical courses of two adult spinal pilocytic astrocytoma long-term survivors with GTF2I::BRAF fusion.

Frontiers in oncology
2026

Nivolumab-Associated Autoimmune Encephalopathy in a Child With Multiply Relapsed Anaplastic Ependymoma.

Pediatric blood &amp; cancer
2026

AI-driven label-free Raman spectromics for intraoperative spinal tumor assessment.

NPJ digital medicine
2026

A Parental Request for an Unproven Treatment for a Rare Pediatric Cancer: Sound Reasons for Not Going Off-Label.

The Hastings Center report
2026

The Case for Prescribing Metformin Off-Label for a Child in Remission from Ependymoma.

The Hastings Center report
2026

Phase I/II Study of the CDK2/9 Inhibitor Fadraciclib in Combination with Chemotherapy in Children with Advanced Malignancies: Arm K of the AcSé-ESMART Trial.

Targeted oncology
2026

Thoracic intramedullary spinal cord astrocytoma associated with syringomyelia: a case report of gross total resection.

International journal of surgery case reports
2026

Neuroendocrine Tumor of the Cauda Equina: A Report of a Rare Case With Histopathological and Immunohistochemical Correlation.

Cureus
2026

Exploiting Metabolic Dependencies for Therapeutic Targeting of Brain Cancers.

Cancer letters
2026

Metabolic vulnerability in fusion-driven ependymoma.

Nature reviews. Cancer
2026

Multidimensional profiling of heterogeneity in supratentorial ependymomas.

Nature
2026

Back to square one: Treatment for ependymoma in the post-ACNS0831 era.

Neuro-oncology
2026

Adnexal Endometrioid Carcinomas With Sex Cord-Like Morphology are Frequently PAX8-Negative, SOX17-Positive, and Enriched for CTNNB1 Alterations.

The American journal of surgical pathology
2026

Effect of radiation on patients with grade 2 intramedullary spine ependymoma.

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
2026

Targeted and systemic therapies for recurrent adult ependymomas: real-world outcomes from a single institution and concise literature review.

Frontiers in oncology
2026

Anterior Fibular Graft and Posterior Fusion for Proximal Cervical Kyphosis Following Resection of Posterior Fossa Ependymoma: A Case Report.

JBJS case connector
2026

Ventriculoperitoneal shunt-associated cystic lesion with perilesional cerebral edema 45 years after placement for posterior fossa tumor: A case report.

Surgical neurology international
2025

Primary Pediatric Brain Tumors in a Tertiary Referral Center in Iran: A 13-Year Retrospective Analysis.

Archives of Iranian medicine
2026

Modeling pediatric brain tumors with human stem cells.

Frontiers in cellular neuroscience
2026

Restricting Itaconate Suppresses ZFTA-RELA Ependymoma Growth.

Cancer discovery
2026

Proton Radiotherapy Outcomes in Pediatric Ependymoma: a Long-term meta-analysis (PROPEL).

Critical reviews in oncology/hematology
2026

Nuances in the management of cerebellopontine angle ependymomas: illustrative case.

Journal of neurosurgery. Case lessons
2026

The Impact of Hearing Loss on Cognitive Outcomes among Children Treated with Radiation Therapy for Ependymoma.

Neuro-oncology
2026

"Endocrine Disorders After Treatment for Pediatric Brain Tumors: Long-Term Outcomes and Risk Factors".

The Journal of clinical endocrinology and metabolism
2026

A rare constellation of bilateral progressive visual and auditory loss in neurofibromatosis type 2: a multimodal diagnostic approach.

Annals of medicine and surgery (2012)
2026

Memantine to preserve memory and neurocognition following craniospinal irradiation (MEMENTO): a phase 3 randomized controlled trial.

BMC cancer
2026

A systems approach identifies MERTK as a therapeutic vulnerability in ZFTA-RELA-driven ependymomas.

Proceedings of the National Academy of Sciences of the United States of America
2026

Thoracic tanycytic ependymoma with anaplastic progression after subtotal resection and repeated radiotherapy: A 17-year follow-up case report.

Surgical neurology international
2026

Accurate classification of ependymomas and medulloblastomas using Raman spectroscopy and pilot transcriptomic profiling.

Spectrochimica acta. Part A, Molecular and biomolecular spectroscopy
2026

Clinical predictors of overall survival in pediatric patients with intramedullary spinal tumors: an analysis of the SEER database.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
2026

Two pediatric supratentorial ependymal tumors with novel PLAG1 fusions.

Acta neuropathologica communications
2026

Childhood brain tumors instruct cranial hematopoiesis and immunotolerance.

Nature genetics
2026

En-bloc resection achieves higher GTR rates with similar neurological outcomes in grade-2 intramedullary spinal ependymomas: single-centre cohort study.

British journal of neurosurgery
2026

Unraveling the miRNA-EMT-stemness interplay in fusion-positive supratentorial ependymomas: Identifying therapeutic vulnerabilities.

Biochemical and biophysical research communications
2026

A brief history of ependymoma.

Neuro-oncology
2026

Surgical treatment of myxopapillary ependymoma: an institutional case series of 56 patients.

Journal of neurosurgery. Spine
2025

An opportunity for fertility preservation in neurosurgical spinal ependymoma patients: a single center review.

Frontiers in reproductive health
2026

EZHIP in Pediatric Brain Tumors: From Epigenetic Mimicry to Therapeutic Vulnerabilities.

International journal of molecular sciences
2026

Thoracic metastasis of a pediatric posterior fossa group A ependymoma: a rare case and literature review.

World journal of pediatric surgery
2025

Radiological analysis correlated with neurological outcomes following resection of myxopapillary ependymoma: patient series.

Journal of neurosurgery. Case lessons
2026

Recurrent pediatric posterior fossa anaplastic ependymoma managed with multiple resections: illustrative case.

Journal of neurosurgery. Case lessons
2026

Posterior fossa ependymoma harboring H3K27M mutation: A rare case report with clinical follow-up and diagnostic challenges.

Clinical neuropathology
2026

Intraoperative Ultrasound Imaging Features Guiding Surgical Strategy in Spinal Cord Ependymoma Resection.

Neurosurgery practice
2026

A highly abundant circular RNA from the RMST locus plays a role in posterior fossa ependymoma pathogenesis.

Brain pathology (Zurich, Switzerland)
2026

Spinal deformity following surgery for paediatric intramedullary spinal cord tumours.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
2025

Clinical and Prognostic Implications of Isocitrate Dehydrogenase Mutation in Gliomas Within a Latin American Public Oncology System: Insights From a Retrospective Panamanian Cohort.

Cureus
2025

Extraspinal sacrococcygeal anaplastic ependymoma: A case report.

International journal of surgery case reports
2026

Brain Mapping for Surgical Resection of Left Dominant Supramarginal and Angular Gyrus Grade II Ependymoma: 2-Dimensional Operative Video.

Operative neurosurgery (Hagerstown, Md.)
2026

Multimodal-based analysis of single-cell ATAC-seq data enables highly accurate delineation of clinically relevant tumor cell subpopulations.

Genome medicine
2026

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
2026

RE: Comments on cIMPACT-NOW Update 11.

Brain pathology (Zurich, Switzerland)
2025

A rare case of supratentorial intraparenchymal ependymoma in a 13 years old girl: Diagnostic and therapeutic challenges.

Pakistan journal of medical sciences
2026

A Systematic Review of Evidence on the Clinical Effectiveness of Surveillance Imaging in Children With Medulloblastoma and Ependymoma.

Pediatric blood &amp; cancer
2026

Cerebello-Pontine Angle Tumors in Children: An Update on Challenging Neoplasms.

Diagnostics (Basel, Switzerland)
2026

Proton-Based Re-Irradiation of Locally Recurrent Pediatric Brain Tumors in Close Proximity to the Brainstem.

International journal of particle therapy
2025

Methylation profiling in neuropathological tumors diagnosis: a comprehensive review.

Frontiers in oncology
2025

Histopathological Assessment of Cellular Heterogeneity in Pediatric Ependymomas.

Diagnostics (Basel, Switzerland)
2026

Clinical Features and Prognostic Indicators for Brainstem Ependymomas : A Population-Based Retrospective Surveillance, Epidemiology, and End Results Database Analysis.

Journal of Korean Neurosurgical Society
2025

Phase 1 study of mebendazole therapy for refractory/progressive or recurrent pediatric brain tumors.

Neuro-oncology practice
2025

Longitudinal neuropathologic and molecular characterization of a retroperitoneal ependymoma.

Journal of neuropathology and experimental neurology
2025

Phase 3 randomized trial of post-irradiation chemotherapy in patients with newly diagnosed ependymoma, a report from the Children's Oncology Group.

Neuro-oncology
2026

Posterior Fossa Group A Ependymoma in Trisomy 21.

Neuropathology : official journal of the Japanese Society of Neuropathology
2025

Surgery in NF2-Schwannomatosis.

Familial cancer
2025

Algorithm-based assessment of T-cell dysfunction and exclusion to forecast ICB sensitivity in pediatric brain ependymoma.

Journal of neuro-oncology
2025

A rare case of cauda equina paraganglioma histologically simulating ependymoma.

Surgical neurology international
2026

Outcomes of initially chosen non-operative management for spinal ependymoma.

Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia
2025

Benchmarking nazionale della sopravvivenza per stadio alla diagnosi dei tumori infantili in Italia (BENCHISTA-ITA): protocollo di studio.

Epidemiologia e prevenzione
2025

Multifocal Spinal Intradural Myxopapillary Ependymoma.

Indian journal of orthopaedics
2025

Intraspinal collision tumor comprising a schwannoma and ependymocytoma: a rare case study and literature review.

Folia neuropathologica
2025

[Fertility Preservation for Pediatric Brain Tumor Patients: Current Status and Challenges].

No shinkei geka. Neurological surgery
2025

[Current Status and Prospects of Clinical Trials for Ependymoma].

No shinkei geka. Neurological surgery
2026

Clinical and Magnetic Resonance Findings for the Diagnosis of Recurrent Tumors versus Radiation-Induced Secondary Tumors of Malignant Pediatric Brain Tumors of the Posterior Fossa.

World neurosurgery
2025

Ascending Transtentorial Herniation: A Rare Complication of Posterior Cranial Fossa Tumors and Review of Literature.

Asian journal of neurosurgery
2025

Utility of Immunohistochemistry in Subtyping Posterior Fossa Group A Ependymoma: A Retrospective Study.

Asian journal of neurosurgery
2025

Non-invasive prediction of Ki-67 and p53 biomarkers in spinal ependymoma via deep learning: using multimodal magnetic resonance imaging and clinical data.

Biomarker research
2025

Development and validation of a multi-modal MRI-based deep learning framework for differentiation of intraspinal tumors (ISMF-Net).

EClinicalMedicine
2025

Precise diagnosis of pediatric posterior cranial fossa neoplasms based on 2.5D MRI deep learning.

Frontiers in oncology
2025

Syncope in a Patient With an Extensive Thoracolumbosacral Myxopapillary Ependymoma.

Cureus
2025

Late Morbidity and Mortality in Survivors of Childhood Ependymoma: A Report from the Childhood Cancer Survivor Study (CCSS).

Cancers
2026

Patterns of care in primary brain tumour Reirradiation: A survey by the ESTRO CNS focus Group.

Radiotherapy and oncology : journal of the European Society for Therapeutic Radiology and Oncology
2026

CAR T cells targeting the glycoprotein GD2 show potent antitumor efficacy in high-risk ependymoma models.

The Journal of clinical investigation
2025

The clinical spectrum of paediatric NF2- related schwannomatosis.

Familial cancer
2026

DNA Methylation Profiling Classifies and Reveals Origin of Gynecologic Central Nervous System-Like Tumors.

Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc
2025

Pan-cancer 3D genomic analysis revealed extremely long Polycomb loops as the biomarker for sensitivity to Polycomb inhibition.

bioRxiv : the preprint server for biology
2025

A rare case of supratentorial ependymosarcoma harboring ZFTA::RELA fusion.

Brain tumor pathology
2026

Single-nucleus transcriptomics of spinal ependymoma subtypes recognizes intratumoral heterogeneity.

Neuro-oncology
2025

Matrix viscoelasticity regulates dendritic cell migration and immune priming.

bioRxiv : the preprint server for biology
2025

Tumor size and treatment factors as correlates of 10-year mortality in grade III spinal ependymomas: a nationwide analysis.

Scientific reports
2025

Fatal ornithine transcarbamylase deficiency presentation postresection of fourth ventricle ependymoma: illustrative case.

Journal of neurosurgery. Case lessons
2026

Maternal Neurosurgical Management of Central Nervous System Tumors During Pregnancy: A Case Series with Long-Term Offspring Neurodevelopmental Follow-Up.

World neurosurgery
2025

EZHIP boosts neuronal-like synaptic gene programs and depresses polyamine metabolism.

Acta neuropathologica communications
2025

Three decades of radiotherapy advancements for pediatric ependymoma.

Advances in cancer research
2025

Adult ependymoma: results from the Dutch Brain Tumour Registry on primary treatment and survival.

Journal of neuro-oncology
2025

The current status of immune checkpoint inhibitors in pediatric CNS tumors: a systematic review with a representative case of CMMRD-associated glioma.

Journal of neuro-oncology
2025

Multi-omics analysis delineates molecular signatures of spinal ependymal tumor.

Cellular oncology (Dordrecht, Netherlands)
2026

Integrated transcriptomic landscape of medulloblastoma and ependymoma reveals novel tumor subtype-specific biology.

Neuro-oncology
2025

Tandem Detethering: A Novel One-Stage Approach Combining Cervicothoracic Cord Release Followed by Filum Terminale Sectioning.

Journal of clinical medicine
2025

Genetic Markers and Mutations in Primary Spinal Cord Tumors and Their Impact on Clinical Management.

Brain sciences
2026

Integrated Single-Nucleus and Spatial Transcriptomics Elucidate Heterogeneity and Hypoxia-Driven Organization of Supratentorial Ependymoma.

Cancer research
2025

Three-year insights from a proton therapy centre: Evolving strategies in ependymoma treatment planning.

Technical innovations &amp; patient support in radiation oncology
2025

Clinical profile and outcomes of pediatric ependymoma: a 10-year retrospective analysis from a resource-limited setting.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
2025

Presenting symptoms and outcomes of cervical and thoracic ependymomas compared to conus and filum ependymomas.

Journal of neurosurgery. Spine
2025

Intraoperative neurophysiological monitoring in surgery for intramedullary spinal cord lesions - workflow, setup and outcomes.

Acta neurochirurgica
2026

A predictive model for differentiating PFA and PFB subtypes of posterior fossa ependymoma using multi-sequence MRI radiomics: a two-center study.

Neuroradiology
2025

Ependymoma: Advances in Systems Treatment Strategies.

Current neurology and neuroscience reports
2025

High-grade astroblastoma initially misdiagnosed as papillary meningioma: a case report.

The Pan African medical journal
2025

Profiling extracellular vesicles from cerebrospinal fluid for classification of intradural spinal tumors.

Scientific reports
2025

Spinal myxopapillary ependymoma with anaplastic features: A case report and review of the literature.

Surgical neurology international
2025

Laparoscopic anchoring of peritoneal catheters using surgical mesh - a promising approach for recurrent extrinsic ventriculoperitoneal shunt migration.

British journal of neurosurgery
2025

The effect of oncolytic virotherapy on pediatric brain tumor- a systematic review.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
2025

The Role of D-Wave Monitoring in Motor-Evoked Potential Loss During Intramedullary Spinal Cord Tumors Resection.

Neurospine
2025

[Intramedullary ependymoma of spinal canal:a case report].

Zhongguo gu shang = China journal of orthopaedics and traumatology
2025

Investigation of DNA Damage Response Genes Validates the Role of DNA Repair in Pediatric Cancer Risk and Identifies SMARCAL1 as a Novel Osteosarcoma Predisposition Gene.

Journal of clinical oncology : official journal of the American Society of Clinical Oncology
2025

EUS Guided FNA Cell Block Cytology and Intraoperative Squash Cytology in the Diagnostic Approach of Unfamiliar Malignant Neoplastic Disorders.

Acta medica (Hradec Kralove)
2025

Surgical Outcomes and Prognostic Factors for Resectability of Intramedullary Spinal Cord Tumors Incorporating Intraoperative Neurophysiological Monitoring In Vietnam.

Medical archives (Sarajevo, Bosnia and Herzegovina)
2025

Surgical technique for executing an en bloc resection of a multilevel cervical intramedullary ependymoma: A 2D operative video.

Surgical neurology international
2025

A rare case of posterior fossa collision tumor involving low-grade astrocytoma and meningioma.

Journal of surgical case reports
2026

Developing an advanced risk stratification model for pediatric intracranial ependymoma based on the prospective trial E-HIT2000 and subsequent registries.

Neuro-oncology
2026

Aqueductal posterior fossa type B ependymoma in Li-Fraumeni syndrome.

Journal of neuropathology and experimental neurology
2025

Intramedullary Schwannoma of the Conus Medullaris Presenting With Progressive Paraparesis: A Rare Case From a Resource-Limited Setting.

Clinical case reports
2025

Delay in the diagnosis of pediatric central nervous system tumors: data from a single tertiary care center.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
2026

Imaging Differentiation of Supratentorial Ependymoma and High-Grade Glioma in Children Using VASARI Features.

AJNR. American journal of neuroradiology
2025

Conditionally Reprogrammed Cells as Preclinical Model for Rare Cancers.

Cancers
2025

Human Polyomavirus BK Genome Analysis in BKPyV Induced Rodent Cell Lines.

MicrobiologyOpen
2025

Central nervous system tumors with BCOR internal tandem duplications: a systematic review of clinical, radiological, and pathological features in 69 cases.

Journal of pathology and translational medicine
2025

Current Approach and Predictors of Clinical Outcomes in Adults With Spinal Ependymomas.

Cureus
2026

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)
2025

Impact of the COVID-19 pandemic on diagnosis and management of new brain tumours in children and young people (aged < 16 years old) in the UK.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
2025

Survival Patterns and Mortality Causes in Patients with Invasive Ependymoma: A Retrospective Cohort Analysis from 2000 to 2019.

Medical sciences (Basel, Switzerland)
2025

Microscopic Minimal Invasive Resection of Spinal Tumor with Tubular Retractor System: Case Studies of 70 Patients with Literature Review.

Asian journal of neurosurgery
2025

Microscopic Resection of Intracranial Lesions with Tubular Retractor of Plastic Syringe: A Single-Center Experience of 157 Cases.

Asian journal of neurosurgery
2025

Multicenter basket trial for central nervous system tumors identifies activity of the CDK4/6 inhibitor abemaciclib in recurrent meningioma.

Neuro-oncology
2025

Radiomics in pediatric brain tumors: from images to insights.

Discover oncology
2025

Nationwide Brain Tumor Registry-based Study of Adult Intracranial Ependymoma in Japan.

Neurologia medico-chirurgica
2025

Targeted Therapy with Dalpiciclib in a Pediatric Patient with Anaplastic Ependymoma: A Case Study and Literature Review.

Recent patents on anti-cancer drug discovery
2025

Microsurgical removal of a C1-C5 laterally located intramedullary subependymoma through a postero-lateral sulcus approach: case report, surgical video and critical review of diagnostic and surgical challenges.

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
2025

Central Nervous System Tumors in Adolescents and Young Adults.

Current neurology and neuroscience reports
2026

How is rosette formation in brain tumours linked with cerebrospinal fluid spread?

Brain tumor pathology
2025

Intracranial low-grade tumors with ALK rearrangement: diverse tumor types with shared molecular alterations.

Human pathology
2025

Spinal Myxopapillary Ependymoma Presenting With Isolated Intracranial Hypertension: A Case Report.

Cureus
2025

An anaplastic ependymoma with chondroid metaplasia after stereotactic radiosurgery: illustrative case.

Journal of neurosurgery. Case lessons
2025

Effect of the TGF-b signaling pathway on spinal cord ependymoma: A study based on bioinformatics analysis and clinical trials.

Folia neuropathologica
2025

PLAG1 fusions define a third subtype of CNS embryonal tumor with PLAG family gene alteration.

Acta neuropathologica
2025

Building a dynamic web calculator for individualized conditional survival estimation in brainstem ependymoma.

Scientific reports
2025

Metastatic Supratentorial Ependymoma: A Case Presentation and Systematic Review of the Literature.

Neuropathology : official journal of the Japanese Society of Neuropathology
2025

CNS Tumor with BCOR/BCORL1 Fusion: A Rare Tumor Entity.

International journal of molecular sciences
2025

Correlation Analysis of Imaging and Pathological Features of Ependymomas.

International journal of general medicine
2025

Uncharted Territory: The First Case of Cardiac Myxoma in a Patient With NF2.

JACC. Case reports
2025

Different nuances between patient- and surgeon-reported outcomes in intramedullary ependymoma surgery.

Journal of neurosurgery. Spine
2025

Freiburg Neuropathology Case Conference: Transition from Chronic Dizziness to Acute Headache and Nausea in a 30-Year-Old.

Clinical neuroradiology
2025

Syringobulbia and Syringomyelia Associated with Intramedullary Ependymoma.

World neurosurgery
2025

Practice Pearls: Spinal Myxopapillary Ependymoma Masquerading as Charcot-Marie Tooth (CMT) Disease.

The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques
2025

Extraventricular Neurocytoma With a Complex Presentation: The Role of Molecular Studies and Technology in Its Management.

Cureus
2025

The role of MRI patterns in predicting neurologic deficits in spinal ependymomas.

Journal of neuro-oncology
2025

Acute paraplegia following epidural anesthesia for cesarean delivery due to asymptomatic spinal cord ependymoma hemorrhage: A case report and literature review.

Medicine
2025

Long-level Intramedullary Spinal Cord Tumor: A Case Series.

JNMA; journal of the Nepal Medical Association
2025

Histopathological Types, Clinical Presentation, Imaging Studies, Treatment Strategies, and Prognosis of Posterior Pituitary Tumors: An Updated Review.

Journal of clinical medicine
2025

Survival and Functional Outcomes Following Surgical Resection of Intramedullary Spinal Cord Tumors: A Series of 253 Patients over 22 Years.

Cancers
2025

Are dorsal column deficits inevitable in intramedullary spine tumor resection?

Journal of neurosurgery. Spine
2025

Primary pediatric brain tumors in Africa: a systematic review and comparative meta-analysis.

Journal of neurosurgery. Pediatrics
2025

Adjuvant Etoposide for Very High-risk PFA Ependymoma: A Case Report.

Journal of pediatric hematology/oncology
2025

B7-H3 CAR T Cells Are Effective against Ependymomas but Limited by Tumor Size and Immune Response.

Clinical cancer research : an official journal of the American Association for Cancer Research
2025

Myxopapillary Ependymoma: A Case Report.

Cureus
2025

Pulsed reduced dose rate radiotherapy: a narrative review.

Chinese clinical oncology
2025

Pseudoprogression in Pediatric Spinal Pilocytic Astrocytoma and Myxopapillary Ependymoma after Proton Therapy: A Case Series.

Pediatric blood &amp; cancer
2025

Optimizing outcomes in intracranial ependymoma: a contemporary review.

Frontiers in oncology
2025

Machine learning-driven national analysis for predicting adverse outcomes in intramedullary spinal cord tumor surgery.

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
2025

Radiosurgery for pediatric central nervous system lesions - initial report and insights from a multicenter registry.

Radiotherapy and oncology : journal of the European Society for Therapeutic Radiology and Oncology
2025

Recurrent parietal lobe supratentorial ependymoma, ZFTA fusion-positive, CNS WHO grade 3, with new dural and calvarial reactive changes in a child: illustrative case.

Journal of neurosurgery. Case lessons
2025

How long should survivors of pediatric medulloblastoma and ependymoma be screened for recurrence? A retrospective cohort study.

International journal of cancer
2025

Intramedullary schwannoma mimicking ependymoma: illustrative case.

Journal of neurosurgery. Case lessons
2025

Comprehensive Genome Analysis Facilitates the Diagnosis of Ependymoma With ZFTA::NCOA2 Fusion.

Pediatric blood &amp; cancer
2025

Diagnostic Accuracy of MRI and CT Scan Features in Differentiation of Pediatric Ependymoma from Medulloblastoma.

Iranian journal of child neurology
2025

Assessment of Clinical and Neurological Alterations Before Radiation Therapy in Children With Malignant Brain Tumours.

Clinical oncology (Royal College of Radiologists (Great Britain))
2025

Extra-neural metastases of recurrent myxopapillary ependymoma: A patient case and literature review.

Surgical neurology international
2025

Non-Neoplastic Lesions of the Ependyma: A Neuropathological Overview.

Neuropathology : official journal of the Japanese Society of Neuropathology
2025

Dynamic Magnetic Resonance Imaging Changes in Spinal Ependymomas and Their Impact on Surgical Planning.

Neurologia medico-chirurgica
2025

An adult patient with initial presentation of myxopapillary ependymoma at the cerebellopontine angle: illustrative case.

Journal of neurosurgery. Case lessons
2025

How many cases of spinal intramedullary ependymoma surgery are required to achieve stability? - Analysis using X-bar charts.

Spinal cord
2025

Supra-sellar clear cell ependymoma in a 2-year-old female: A case report.

International journal of surgery case reports
2025

Radiosurgery for central nervous system ependymomas: a systematic review and meta-analysis.

Journal of neuro-oncology
2025

Multiple system biology approaches reveals the role of the hsa-miR-21 in increasing risk of neurological disorders in patients suffering from hypertension.

Journal of human hypertension
2025

Establishment of Orthotopic Patient-derived Xenograft Models for Brain Tumors using a Stereotaxic Device.

Journal of visualized experiments : JoVE
2025

The immunopeptidomic landscape of ependymomas provides actionable antigens for T-cell-based immunotherapy.

Neuro-oncology advances
2025

Freiburg Neuropathology Case Conference: Gait Ataxia, Segmental Hypoesthesia, and Combined Incontinence in a 57-Years-Old Patient.

Clinical neuroradiology
2025

MRI-based deep learning with clinical and imaging features to differentiate medulloblastoma and ependymoma in children.

Frontiers in molecular biosciences
2025

Dosimetric comparison of intensity-modulated proton therapy and proton arc therapy for pediatric ependymoma.

Acta oncologica (Stockholm, Sweden)
2025

Expanding clinicopathologic knowledge in high-grade glioma with pleomorphic and pseudopapillary features (HPAP): a report of two cases.

Acta neuropathologica communications
2025

Three cases of pituicytoma with a review of the literature and insight into a rare variant of ependymal pituicytoma.

Clinical neuropathology
2025

Clinical Characteristics, Histopathological Profile, and Postoperative Outcomes of Tumoral Radiculomedullary Compressions.

Cureus
2025

Dissecting the immune landscape in pediatric high-grade glioma reveals cell state changes under therapeutic pressure.

Cell reports. Medicine
2026

Resection of a Cerebellopontine Angle Ependymoma Using a Far Lateral Approach: 2-Dimensional Operative Video.

Operative neurosurgery (Hagerstown, Md.)
2025

Magnetic resonance imaging (MRI) radiomics in paediatric neuro-oncology: A systematic review of clinical applications, feature interpretation, and biological insights in the characterisation and management of childhood brain tumours.

Digital health
2025

Automatic smart brain tumor classification and prediction system using deep learning.

Scientific reports
Ver todos os 2.727 no EuropePMC

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Doenças relacionadas

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Referências e fontes

Bases de dados externas citadas neste artigo

Publicações científicas

Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.

  1. Multidimensional profiling of heterogeneity in supratentorial ependymomas.
    Nature· 2026· PMID 41813893mais citado
  2. Ventriculoperitoneal shunt-associated cystic lesion with perilesional cerebral edema 45 years after placement for posterior fossa tumor: A case report.
    Surgical neurology international· 2026· PMID 41783190mais citado
  3. Modeling pediatric brain tumors with human stem cells.
    Frontiers in cellular neuroscience· 2026· PMID 41757347mais citado
  4. A systems approach identifies MERTK as a therapeutic vulnerability in ZFTA-RELA-driven ependymomas.
    Proceedings of the National Academy of Sciences of the United States of America· 2026· PMID 41665993mais citado
  5. Thoracic tanycytic ependymoma with anaplastic progression after subtotal resection and repeated radiotherapy: A 17-year follow-up case report.
    Surgical neurology international· 2026· PMID 41660332mais citado
  6. Intracranial ependymoma grade II with lipomatous metaplasia: a case report and literature review.
    Front Oncol· 2026· PMID 41994644recente
  7. Clinical Characteristics, Management, and Outcomes of Intramedullary Spinal Cord Ependymomas: A Systematic Review and Meta-Analysis.
    Spine Surg Relat Res· 2026· PMID 41988002recente
  8. Clinical and Magnetic Resonance Features of Spinal Myxopapillary Ependymoma.
    Neurosurg Pract· 2026· PMID 41982316recente
  9. 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 Oncol· 2026· PMID 41978543recente
  10. Ependymoma group-specific blood-brain barrier differences uncovered by a multi-omics approach.
    Sci Rep· 2026· PMID 41963440recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:251636(Orphanet)
  2. MONDO:0016698(MONDO)
  3. GARD:6353(GARD (NIH))
  4. Variantes catalogadas(ClinVar)
  5. Busca completa no PubMed(PubMed)
  6. Artigo Wikipedia(Wikipedia)
  7. Q1346753(Wikidata)

Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.

Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar

Ependimona
Compêndio · Raras BR

Ependimona

ORPHA:251636 · MONDO:0016698
Prevalência
Unknown
Herança
Not applicable
CID-10
D43.2 · Neoplasia de comportamento incerto ou desconhecido do encéfalo, não especificado
Ensaios
34 ativos
Início
All ages
Prevalência
0.0 (Europe)
MedGen
UMLS
C0014474
Repurposing
1 candidato
carmustineDNA alkylating agent|DNA inhibitor
EuropePMC
Wikidata
Wikipedia
Papers 10a
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