Raras
Buscar doenças, sintomas, genes...
Meduloblastoma
ORPHA:616CID-10 · C71.6CID-11 · 2A00.10OMIM 155255DOENÇA RARA

É um tipo de câncer cerebral agressivo e que se espalha, originado no cerebelo (a parte do cérebro que controla o equilíbrio e a coordenação). Ele é chamado de "embrionário" porque se desenvolve a partir de células muito jovens. Atinge principalmente crianças e tem a tendência de se espalhar para outras partes do cérebro e da medula espinhal através do líquido que circula por ali (o líquido cefalorraquidiano). Os sinais e sintomas incluem dificuldade para manter o equilíbrio do tronco, problemas ao andar, cansaço extremo (letargia), dor de cabeça e vômitos. Existem quatro tipos principais deste tumor, identificados pela análise das células ao microscópio: meduloblastoma clássico, meduloblastoma de grandes células/anaplásico, meduloblastoma desmoplásico/nodular e meduloblastoma com nodularidade extensa.

Mantido por Agente Raras·Colaborar como especialista →

Introdução

O que você precisa saber de cara

📋

É um tipo de câncer cerebral agressivo e que se espalha, originado no cerebelo (a parte do cérebro que controla o equilíbrio e a coordenação). Ele é chamado de "embrionário" porque se desenvolve a partir de células muito jovens. Atinge principalmente crianças e tem a tendência de se espalhar para outras partes do cérebro e da medula espinhal através do líquido que circula por ali (o líquido cefalorraquidiano). Os sinais e sintomas incluem dificuldade para manter o equilíbrio do tronco, problemas ao andar, cansaço extremo (letargia), dor de cabeça e vômitos. Existem quatro tipos principais deste tumor, identificados pela análise das células ao microscópio: meduloblastoma clássico, meduloblastoma de grandes células/anaplásico, meduloblastoma desmoplásico/nodular e meduloblastoma com nodularidade extensa.

Pesquisas ativas
36 ensaios
337 total registrados no ClinicalTrials.gov
Publicações científicas
9.734 artigos
Último publicado: 2026 Apr 9

Escala de raridade

CLASSIFICAÇÃO ORPHANET · BRASIL 2024
1-9 / 100 000
Ultra-rara
<1/50k
Muito rara
1/20k
Rara
1/10k
Pouco freq.
1/5k
Incomum
1/2k
Prevalência
1.0
Europe
Início
All ages
🏥
SUS: Sem cobertura SUSScore: 0%
CID-10: C71.6
Você se identifica com essa condição?
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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

🧠
Neurológico
14 sintomas
🫃
Digestivo
2 sintomas
🦴
Ossos e articulações
2 sintomas
👁️
Olhos
1 sintomas
🫁
Pulmão
1 sintomas
👂
Ouvidos
1 sintomas

+ 17 sintomas em outras categorias

Características mais comuns

100%prev.
Meduloblastoma
55%prev.
Meduloblastoma cerebelar
Frequente (79-30%)
55%prev.
Fechamento atrasado da sutura craniana
Frequente (79-30%)
55%prev.
Letargia
Frequente (79-30%)
55%prev.
Tremor intencional
Frequente (79-30%)
55%prev.
Macrocefalia progressiva
Frequente (79-30%)
38sintomas
Muito frequente (1)
Frequente (14)
Ocasional (16)
Muito raro (3)
Sem dados (4)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 38 características clínicas mais associadas, ordenadas por frequência.

MeduloblastomaMedulloblastoma
Muito frequente100%
Meduloblastoma cerebelarCerebellar medulloblastoma
Frequente (79-30%)55%
Fechamento atrasado da sutura cranianaDelayed cranial suture closure
Frequente (79-30%)55%
LetargiaLethargy
Frequente (79-30%)55%
Tremor intencionalIntention tremor
Frequente (79-30%)55%

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Total histórico9.734PubMed
Últimos 10 anos200publicações
Pico2026122 papers
Linha do tempo
2026Hoje · 2026🧪 1989Primeiro ensaio clínico
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

6 genes identificados com associação a esta condição. Padrão de herança: Not applicable.

CTNNB1Catenin beta-1Disease-causing germline mutation(s) inAltamente restrito
FUNÇÃO

Key downstream component of the canonical Wnt signaling pathway (PubMed:17524503, PubMed:18077326, PubMed:18086858, PubMed:18957423, PubMed:21262353, PubMed:22155184, PubMed:22647378, PubMed:22699938). In the absence of Wnt, forms a complex with AXIN1, AXIN2, APC, CSNK1A1 and GSK3B that promotes phosphorylation on N-terminal Ser and Thr residues and ubiquitination of CTNNB1 via BTRC and its subsequent degradation by the proteasome (PubMed:17524503, PubMed:18077326, PubMed:18086858, PubMed:189574

LOCALIZAÇÃO

CytoplasmNucleusCytoplasm, cytoskeletonCell junction, adherens junctionCell junctionCell membraneCytoplasm, cytoskeleton, microtubule organizing center, centrosomeCytoplasm, cytoskeleton, spindle poleSynapseCytoplasm, cytoskeleton, cilium basal body

VIAS BIOLÓGICAS (10)
Formation of the nephric ductSpecification of the neural plate borderSynthesis, secretion, and inactivation of Glucagon-like Peptide-1 (GLP-1)TCF dependent signaling in response to WNTTranscriptional Regulation by VENTX
MECANISMO DE DOENÇA

Colorectal cancer

A complex disease characterized by malignant lesions arising from the inner wall of the large intestine (the colon) and the rectum. Genetic alterations are often associated with progression from premalignant lesion (adenoma) to invasive adenocarcinoma. Risk factors for cancer of the colon and rectum include colon polyps, long-standing ulcerative colitis, and genetic family history.

EXPRESSÃO TECIDUAL(Ubíquo)
Cervix Endocervix
297.5 TPM
Cervix Ectocervix
257.8 TPM
Artéria tibial
233.5 TPM
Ovário
201.9 TPM
Cérebro - Hemisfério cerebelar
201.3 TPM
OUTRAS DOENÇAS (17)
hepatocellular carcinomasevere intellectual disability-progressive spastic diplegia syndromeovarian cancerpilomatrixoma
HGNC:2514UniProt:P35222
PTCH2Protein patched homolog 2Disease-causing germline mutation(s) inTolerante
FUNÇÃO

Plays a role in the control of cellular growth (PubMed:18285427). May have a role in epidermal development. May act as a receptor for Sonic hedgehog (SHH)

LOCALIZAÇÃO

Membrane

VIAS BIOLÓGICAS (1)
Class B/2 (Secretin family receptors)
MECANISMO DE DOENÇA

Medulloblastoma

Malignant, invasive embryonal tumor of the cerebellum with a preferential manifestation in children.

EXPRESSÃO TECIDUAL(Ubíquo)
Testículo
50.1 TPM
Ovário
41.7 TPM
Nervo tibial
32.2 TPM
Cerebelo
23.6 TPM
Cérebro - Hemisfério cerebelar
20.7 TPM
OUTRAS DOENÇAS (4)
medulloblastomabasal cell carcinoma, susceptibility to, 1commissural facial cleftnevoid basal cell carcinoma syndrome
HGNC:9586UniProt:Q9Y6C5
SUFUSuppressor of fused homologCandidate gene tested inAltamente restrito
FUNÇÃO

Negative regulator in the hedgehog/smoothened signaling pathway (PubMed:10559945, PubMed:10564661, PubMed:10806483, PubMed:12068298, PubMed:12975309, PubMed:15367681, PubMed:22365972, PubMed:24217340, PubMed:24311597, PubMed:27234298, PubMed:28965847). Down-regulates GLI1-mediated transactivation of target genes (PubMed:15367681, PubMed:24217340, PubMed:24311597). Down-regulates GLI2-mediated transactivation of target genes (PubMed:24217340, PubMed:24311597). Part of a corepressor complex that a

LOCALIZAÇÃO

CytoplasmNucleus

VIAS BIOLÓGICAS (4)
GLI3 is processed to GLI3R by the proteasomeHedgehog 'off' stateDegradation of GLI1 by the proteasomeDegradation of GLI2 by the proteasome
MECANISMO DE DOENÇA

Medulloblastoma

Malignant, invasive embryonal tumor of the cerebellum with a preferential manifestation in children.

EXPRESSÃO TECIDUAL(Ubíquo)
Skin Sun Exposed Lower leg
19.1 TPM
Testículo
17.1 TPM
Skin Not Sun Exposed Suprapubic
16.1 TPM
Nervo tibial
15.3 TPM
Útero
14.5 TPM
OUTRAS DOENÇAS (11)
Joubert syndrome 32basal cell nevus syndrome 2familial multiple meningiomamedulloblastoma with extensive nodularity
HGNC:16466UniProt:Q9UMX1
ELP1Elongator complex protein 1Candidate gene tested inTolerante
FUNÇÃO

Component of the elongator complex which is required for multiple tRNA modifications, including mcm5U (5-methoxycarbonylmethyl uridine), mcm5s2U (5-methoxycarbonylmethyl-2-thiouridine), and ncm5U (5-carbamoylmethyl uridine) (PubMed:29332244). The elongator complex catalyzes the formation of carboxymethyluridine in the wobble base at position 34 in tRNAs (PubMed:29332244). Regulates the migration and branching of projection neurons in the developing cerebral cortex, through a process depending on

LOCALIZAÇÃO

CytoplasmNucleus

VIAS BIOLÓGICAS (1)
HATs acetylate histones
MECANISMO DE DOENÇA

Neuropathy, hereditary sensory and autonomic, 3

A form of hereditary sensory and autonomic neuropathy, a genetically and clinically heterogeneous group of disorders characterized by degeneration of dorsal root and autonomic ganglion cells, and by sensory and/or autonomic abnormalities. HSAN3 patients manifest a variety of symptoms such as alacrima, decreased taste, decreased sensitivity to pain and temperature, vasomotor instability, hypoactive or absent deep tendon reflexes, vomiting crises, and gastrointestinal dysfunction.

VIAS REACTOME (1)
OUTRAS DOENÇAS (2)
Riley-Day syndromemedulloblastoma
HGNC:5959UniProt:O95163
BRCA2Breast cancer type 2 susceptibility proteinCandidate gene tested inTolerante
FUNÇÃO

Involved in double-strand break repair and/or homologous recombination. Binds RAD51 and potentiates recombinational DNA repair by promoting assembly of RAD51 onto single-stranded DNA (ssDNA). Acts by targeting RAD51 to ssDNA over double-stranded DNA, enabling RAD51 to displace replication protein-A (RPA) from ssDNA and stabilizing RAD51-ssDNA filaments by blocking ATP hydrolysis. Part of a PALB2-scaffolded HR complex containing RAD51C and which is thought to play a role in DNA repair by HR. May

LOCALIZAÇÃO

NucleusCytoplasm, cytoskeleton, microtubule organizing center, centrosome

VIAS BIOLÓGICAS (3)
Presynaptic phase of homologous DNA pairing and strand exchangeHDR through MMEJ (alt-NHEJ)Meiotic recombination
MECANISMO DE DOENÇA

Breast cancer

A common malignancy originating from breast epithelial tissue. Breast neoplasms can be distinguished by their histologic pattern. Invasive ductal carcinoma is by far the most common type. Breast cancer is etiologically and genetically heterogeneous. Important genetic factors have been indicated by familial occurrence and bilateral involvement. Mutations at more than one locus can be involved in different families or even in the same case.

OUTRAS DOENÇAS (17)
Wilms tumor 1Fanconi anemia complementation group D1breast-ovarian cancer, familial, susceptibility to, 2BRCA2-related cancer predisposition
HGNC:1101UniProt:P51587
GPR161G-protein coupled receptor 161Candidate gene tested inTolerante
FUNÇÃO

Key negative regulator of Shh signaling, which promotes the processing of GLI3 into GLI3R during neural tube development. Recruited by TULP3 and the IFT-A complex to primary cilia and acts as a regulator of the PKA-dependent basal repression machinery in Shh signaling by increasing cAMP levels, leading to promote the PKA-dependent processing of GLI3 into GLI3R and repress the Shh signaling. In presence of SHH, it is removed from primary cilia and is internalized into recycling endosomes, prevent

LOCALIZAÇÃO

Cell projection, cilium membraneCell membrane

VIAS BIOLÓGICAS (2)
Hedgehog 'off' stateHedgehog 'on' state
MECANISMO DE DOENÇA

Medulloblastoma

Malignant, invasive embryonal tumor of the cerebellum with a preferential manifestation in children.

EXPRESSÃO TECIDUAL(Ubíquo)
Útero
41.3 TPM
Fallopian Tube
18.4 TPM
Esôfago - Muscular
12.5 TPM
Cervix Endocervix
11.3 TPM
Esôfago - Junção
10.9 TPM
OUTRAS DOENÇAS (2)
pituitary stalk interruption syndromemedulloblastoma
HGNC:23694UniProt:Q8N6U8

Medicamentos aprovados (FDA)

1 medicamento encontrado nos registros da FDA americana.

💊 Carmustine (CARMUSTINE)
Ver no DailyMed/FDA

Variantes genéticas (ClinVar)

19,161 variantes patogênicas registradas no ClinVar.

🧬 GPR161: NM_001375883.1(GPR161):c.585G>A (p.Trp195Ter) ()
🧬 GPR161: GRCh37/hg19 1q21.1-44(chr1:143932350-249224684)x3 ()
🧬 GPR161: NM_001375883.1(GPR161):c.1127C>T (p.Ala376Val) ()
🧬 GPR161: NM_001375883.1(GPR161):c.1143A>G (p.Gly381=) ()
🧬 GPR161: NM_001375883.1(GPR161):c.445G>A (p.Val149Ile) ()
Ver todas no ClinVar

Classificação de variantes (ClinVar)

Distribuição de 2,497 variantes classificadas pelo ClinVar.

1373
1124
VUS (55.0%)
Benigna (45.0%)
VARIANTES MAIS SIGNIFICATIVAS
GPR161: NM_001375883.1(GPR161):c.679GTC[1] (p.Val228del) [Uncertain significance]
ELP1: NM_003640.5(ELP1):c.2366A>G (p.Glu789Gly) [Uncertain significance]
SUFU: NM_016169.4(SUFU):c.1212G>A (p.Met404Ile) [Uncertain significance]
SUFU: NM_016169.4(SUFU):c.629C>T (p.Ser210Leu) [Uncertain significance]
SUFU: NM_016169.4(SUFU):c.1452C>G (p.His484Gln) [Uncertain significance]

Vias biológicas (Reactome)

51 vias biológicas associadas aos genes desta condição.

Degradation of beta-catenin by the destruction complex Beta-catenin phosphorylation cascade TCF dependent signaling in response to WNT Formation of the beta-catenin:TCF transactivating complex LRR FLII-interacting protein 1 (LRRFIP1) activates type I IFN production Apoptotic cleavage of cell adhesion proteins Deactivation of the beta-catenin transactivating complex Synthesis, secretion, and inactivation of Glucagon-like Peptide-1 (GLP-1) Ca2+ pathway Adherens junctions interactions Binding of TCF/LEF:CTNNB1 to target gene promoters Disassembly of the destruction complex and recruitment of AXIN to the membrane VEGFR2 mediated vascular permeability Myogenesis Signaling by GSK3beta mutants CTNNB1 S33 mutants aren't phosphorylated CTNNB1 S37 mutants aren't phosphorylated CTNNB1 S45 mutants aren't phosphorylated CTNNB1 T41 mutants aren't phosphorylated RHO GTPases activate IQGAPs Transcriptional Regulation by VENTX InlA-mediated entry of Listeria monocytogenes into host cells RUNX3 regulates WNT signaling Cardiogenesis Germ layer formation at gastrulation Regulation of CDH11 function Regulation of CDH19 Expression and Function Regulation of CDH1 Function Degradation of CDH1 Regulation of CDH1 posttranslational processing and trafficking to plasma membrane Class B/2 (Secretin family receptors) Degradation of GLI1 by the proteasome Degradation of GLI2 by the proteasome GLI3 is processed to GLI3R by the proteasome Hedgehog 'off' state Hedgehog 'on' state HATs acetylate histones HDR through MMEJ (alt-NHEJ) HDR through Homologous Recombination (HRR) Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA) Resolution of D-loop Structures through Holliday Junction Intermediates Homologous DNA Pairing and Strand Exchange Presynaptic phase of homologous DNA pairing and strand exchange Meiotic recombination Defective homologous recombination repair (HRR) due to BRCA1 loss of function Defective HDR through Homologous Recombination Repair (HRR) due to PALB2 loss of BRCA1 binding function Defective HDR through Homologous Recombination Repair (HRR) due to PALB2 loss of BRCA2/RAD51/RAD51C binding function Impaired BRCA2 translocation to the nucleus Impaired BRCA2 binding to RAD51 Impaired BRCA2 binding to PALB2 Impaired BRCA2 binding to SEM1 (DSS1)

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.
3Fase 32
2Fase 29
1Fase 16
·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 — Meduloblastoma

🗺️

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

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

NCT05057702 · Individualized Treatment Plan in Children and Young Adults W…Recrutando
NA
NCT06607692 · Study in Children and Adolescents of 177Lu-DOTATATE (Lutathe…Recrutando
PHASE1, PHASE2
NCT04185038 · Study of B7-H3-Specific CAR T Cell Locoregional Immunotherap…Recrutando
PHASE1
NCT07242963 · Relapsed and Progressive Sonic Hedgehog Medulloblastoma With…Recrutando
NCT05278208 · Lutathera for Treatment of Recurrent or Progressive High-Gra…Recrutando
PHASE1, PHASE2
NCT03911388 · HSV G207 in Children With Recurrent or Refractory Cerebellar…Recrutando
PHASE1
NCT05096481 · PEP-CMV Vaccine Targeting CMV Antigen to Treat Newly Diagnos…Recrutando
PHASE2
NCT06161519 · PLX038 in Primary Central Nervous System Tumors Containing M…Recrutando
PHASE1, PHASE2
NCT06193759 · Immunotherapy for Malignant Pediatric Brain Tumors Employing…Recrutando
PHASE1
NCT04696029 · DFMO as Maintenance Therapy for Molecular High/Very High Ris…Recrutando
PHASE2
NCT06942039 · Pilot Study of IT Topotecan and Maintenance Chemotherapy for…Recrutando
EARLY_PHASE1
NCT06701812 · Digoxin Medulloblastoma StudyRecrutando
PHASE2
NCT05382338 · A Study of Treatment for Medulloblastoma Using Sodium Thiosu…Recrutando
PHASE3
NCT01356290 · Antiangiogenic Therapy for Children With Recurrent Medullobl…Recrutando
PHASE2
NCT05535166 · Molecular and Clinical Risk-Directed Therapy for Infants and…Recrutando
PHASE2
NCT07087002 · GPC2-CAR T Cell Therapy for Relapsed or Refractory Medullobl…Recrutando
PHASE1
NCT05230758 · Effect of Metformin on Behaviour and the Brain in Children T…Recrutando
PHASE3
NCT07085325 · CSIMEMPHIS: Long-term Follow-up of Medulloblastoma Survivors…Recrutando
NCT05835687 · Loc3CAR: Locoregional Delivery of B7-H3-CAR T Cells for Pedi…Recrutando
PHASE1

Outros ensaios clínicos

337 ensaios clínicos encontrados, 36 ativos.

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

Timeline de publicações
4.329 papers (10 anos)

Mostrando amostra de 200 publicações de um total de 4.329

#1

Extraneural metastases of pediatric brain tumors: a systematic review.

Journal of neurosurgery. Pediatrics2026 Mar 20

Brain tumors are the most common solid neoplasm in children, accounting for 25% of pediatric cancer cases, with an incidence rate of 6.23 per 100,000. In addition, up to 2% of these patients will develop extraneural metastases associated with a significantly poorer prognosis. The aim of this study was to investigate the incidence, presentation patterns, and neurosurgical considerations associated with extraneural metastases of primary pediatric brain tumors. Using PRISMA guidelines, a search was conducted in the PubMed database to identify all full-text articles published in the English language up to May 2024 that described extraneural metastases in the pediatric population. The included studies comprised retrospective case reports and case series detailing the occurrence of extraneural metastasis following diagnosis of a primary brain tumor. Statistical differences between groups were assessed using the Mann-Whitney U-test for continuous variables and the chi-square test for categorical variables. Of 3811 articles reviewed, 124 articles that included 399 patients (male-to-female ratio of 1.46) with extraneural metastases were identified and analyzed. The mean age at diagnosis of the primary tumor was 8.78 (SD 4.92) years. Latency (the time from diagnosis of the primary tumor to appearance of extraneural metastases) increased with age, with a mean of 19.31 (SD 22.75) months. Medulloblastomas were the most frequent tumors leading to extraneural metastases. Surgical interventions, particularly tumor resection and shunt placement, played a crucial role in the management of the disease, with 79% of children undergoing surgery. Among these patients, placement of a ventriculoperitoneal shunt was associated with a significantly higher occurrence of abdominal metastases (p < 0.00001), whereas lymph node and lung metastases were more frequent in patients without shunts. As nearly all pediatric brain tumors carry a risk of extraneural metastases, these findings provide insights into the metastatic behavior of various tumors and highlight that surgery can influence the pattern of metastastic dissemination. This confirms the need for personalized follow-up and clinical management strategies based on tumor type, age, and surgical approach.

#2

A photoreceptor state links aggressive brain tumors in children.

Cancer cell2026 Mar 19

In this issue of Cancer Cell, Gudenas et al. reveal that Group 3 medulloblastoma, pineoblastoma, and retinoblastoma converge on a shared tumor-associated photoreceptor signature rooted in transient developmental progenitors. This work reframes these malignancies as diseases of common developmental vulnerability and identifies shared transcriptional dependencies with potential therapeutic relevance.

#3

Orthogonal disentanglement of single-cell multi-omics reveals private and shared drivers of tissue development and pathogenesis.

Proceedings of the National Academy of Sciences of the United States of America2026 Mar 24

Characterizing gene expression and regulatory dynamics underlying both normal tissue function and disease progression requires an integrative analysis of single-cell multi-omics data. However, the asynchrony of gene regulation and the snapshot of single-cell multi-omics data give rise to private signals unique to each omics layer and shared signals reflecting cross-modality coordination. Here, we present Omics Separation Modeling using Domain Adaptation (OmiDos), a flexible annotation-free deep learning framework that disentangles omic-specific and interomic shared latent variables in multi-omics data with private-shared component analysis. Its modular architecture enables seamless extension to incorporate adversarial learning for unpaired data misalignment and to restructure its components to leverage the maximum mean discrepancy regularization, thereby minimizing interference with biological variability. Through this disentanglement, OmiDos enables the estimation of gene expression and regulatory dynamics at finer biological granularity and empowers various downstream analyses. We demonstrated the superior performance of OmiDos in terms of clustering accuracy, batch-effect correction, and misalignment resolution across datasets spanning diverse platforms and tissue types. In mouse secondary palate development, OmiDos precisely identified a cell type-specific unlinked distal enhancer, elucidating its essential role in the regulation of epithelial cell differentiation and migration. The application of OmiDos to medulloblastoma revealed a potential role deficiency in driving partial closure of the distal enhancer region of Neurod1 may contribute to the progression of medulloblastoma from normal to tumor states.

#4

A transcription regulator atlas identifies TOX3 as an Atoh1 coactivator in cerebellar development and tumorigenesis.

Proceedings of the National Academy of Sciences of the United States of America2026 Mar 24

Organ development and function are orchestrated by intricate transcriptional circuits. Here, we present a comprehensive atlas profiling 1,904 transcription regulators in the brain, cerebellum, heart, kidney, liver, ovary, and testis of fetal, neonatal, and adult mice. Using this dataset, we uncover Thymocyte Selection-Associated High Mobility Group Box Family Member 3 (TOX3) as a potential coactivator of Atoh1 in cerebellar granule neuron progenitors (GNPs). Tox3-deficient mice display severe ataxia and cerebellar hypoplasia, driven by depletion of GNPs, diminished Atoh1 expression, and impaired primary cilia. Single-nucleus RNA-sequencing analyses reveals compromised maintenance of the progenitor pool. TOX3 is also highly expressed in subsets of medulloblastoma, and its deletion reduces cerebellar neoplasia and prolongs survival in a mouse model. Mechanistically, how lineage-defining factors such as Atoh1 drive robust gene expression despite weak intrinsic transactivation activity remains unclear. We show that Tox3 physically associates with Atoh1 and co-occupies shared regulatory elements, converting an otherwise weak single-copy Atoh1-responsive E-box into a highly active enhancer that drives transcriptional activation by up to 120-fold, including at an ultraconserved E-box downstream of Atoh1 itself. Cross-species single-cell comparisons further show an association between Tox3 expression and cerebellum expansion during vertebrate evolution. Together, this work supports Tox3 as a critical Atoh1 coactivator in cerebellar development, tumorigenesis, and evolution, while providing an atlas and screening strategy as a valuable resource for exploring novel transcriptional regulators in organogenesis and tissue physiology.

#5

Longitudinal Detection of Tumor-Specific Peptides in Cerebrospinal Fluid for Pediatric Brain Tumor Surveillance.

Cells2026 Mar 05

Pediatric brain tumor survivors remain at high risk of recurrence, yet current surveillance strategies relying on neuroimaging and cerebrospinal fluid (CSF) cytology have limited sensitivity for early or minimal disease. Tumor-specific peptides (TSPs) derived from individual tumors represent a promising class of highly specific biomarkers for longitudinal disease monitoring through CSF-based proteomic analysis. In this study, tumor tissue and serial CSF samples from six pediatric brain tumor patients (five medulloblastomas and one atypical teratoid/rhabdoid tumor (ATRT)) were analyzed using an integrated proteogenomic workflow combining discovery and targeted mass spectrometry. TSPs were identified from resected tumor tissue and matched against shotgun CSF proteomic datasets to nominate candidate biomarkers. High-confidence peptides were synthesized as isotopically labeled standards and quantified longitudinally using targeted multiple reaction monitoring. Two TSP biomarkers derived from individualized pediatric brain tumors (one medulloblastoma and one ATRT) demonstrated robust detection in serial CSF samples and exhibited temporal concordance with radiographic disease course, declining with treatment response and increasing during disease progression. These findings establish the feasibility of detecting and longitudinally quantifying TSPs in CSF and support further investigation of individualized proteomic biomarkers for treatment response monitoring and disease surveillance in pediatric brain tumors.

Publicações recentes

Ver todas no PubMed

📚 EuropePMC6.714 artigos no totalmostrando 193

2026

PRDM players in Central Nervous System Cancers: state of the art and future perspectives.

Critical reviews in oncology/hematology
2026

Extraneural metastases of pediatric brain tumors: a systematic review.

Journal of neurosurgery. Pediatrics
2026

Treatment strategies for relapsed medulloblastoma in the pediatric population: illustrative case.

Journal of neurosurgery. Case lessons
2026

Somatic mutation in human cerebellum illustrates neuron type-specific patterns of age-related mutation.

bioRxiv : the preprint server for biology
2026

A photoreceptor state links aggressive brain tumors in children.

Cancer cell
2026

Targeting tumor-associated macrophages-induced IGF1/PI3K/Zic1 axis triggers SHH medulloblastoma regression and chemosensitization.

Neuro-oncology
2026

RAC1 Regulates SHH-Medulloblastoma Growth via GLI-Mediated Transcription.

Neuro-oncology
2026

LncRNA-HLX-2-7/HLX axis-dependent metabolic reprogramming drives cancer progression in group 3 medulloblastoma.

Acta neuropathologica communications
2026

Durable disease control in a radiation-induced high-grade glioma harboring NF1 and PTPN11 co-mutations.

Neuro-oncology advances
2026

Orthogonal disentanglement of single-cell multi-omics reveals private and shared drivers of tissue development and pathogenesis.

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

A transcription regulator atlas identifies TOX3 as an Atoh1 coactivator in cerebellar development and tumorigenesis.

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

Atypical Teratoid/Rhabdoid Tumor of the Posterior Fossa Mimicking Medulloblastoma in an Infant: A Case Report.

Cureus
2026

Diagnosis, treatment, and postoperative follow-up of intracranial Ewing sarcoma (EWS): a case report.

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

Cognitive outcomes after radiotherapy for medulloblastoma: a voxel-based analysis.

International journal of radiation oncology, biology, physics
2026

Integrated Diagnostic and Surgical Management of Pediatric CNS Tumors: A Single-Centre Prognostic Analysis.

Diagnostics (Basel, Switzerland)
2026

Longitudinal Detection of Tumor-Specific Peptides in Cerebrospinal Fluid for Pediatric Brain Tumor Surveillance.

Cells
2026

Exploiting Metabolic Dependencies for Therapeutic Targeting of Brain Cancers.

Cancer letters
2026

Group 4 Medulloblastomas of Early Childhood Treated With High-Dose Chemotherapy- and Craniospinal Irradiation-Sparing Approach.

Pediatric blood &amp; cancer
2026

ONC206 demonstrates potent anti-tumorigenic activity and is a potential novel therapeutic strategy for high-risk medulloblastoma.

Neuro-oncology
2026

Brain tumor detection based on transcription regulation features identified from public cerebrospinal fluid cell-free DNA sequencing data.

Translational cancer research
2026

Exploring the lactate-metabolism related characteristics during the development of medulloblastoma through single-cell and bulk RNA-seq.

Translational cancer research
2026

Immunotherapy approaches for the treatment of relapsed or progressive medulloblastoma.

Journal of neuro-oncology
2026

Cell-free DNA methylation-based detection of organ damage following proton versus photon radiotherapy: a case series.

Translational pediatrics
2026

Molecular and clinical features of a Japanese medulloblastoma cohort: Subgroup-specific prognostic stratification using economical/accessible diagnostic methods.

Brain pathology (Zurich, Switzerland)
2026

An interpretable machine learning model for predicting prognosis of medulloblastoma integrating genetic and clinical features.

Communications medicine
2026

Prognostic factors in adult patients with medulloblastoma.

Neuro-oncology practice
2026

CMA-mediated USP9X degradation promotes SHH medulloblastoma progression by facilitating SUFU ubiquitination.

Clinical and translational medicine
2026

Differentiating medulloblastoma and pilocytic astrocytoma in children based on multimodal MRI radiomics model.

Neuroradiology
2026

A tumor-associated photoreceptor signature unifies distinct central nervous system malignancies.

Cancer cell
2026

Craniospinal irradiation plus tumor-bed boost with standard adjuvant chemotherapy OR high-dose chemotherapy plus autologous stem cell transplant as a radiation-sparing approach in WNT medulloblastoma of early childhood: Fire OR Ice?

Journal of neuro-oncology
2025

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

Archives of Iranian medicine
2026

Publisher Correction: An OTX2-PAX3 signaling axis regulates Group 3 medulloblastoma cell fate.

Nature communications
2026

Genome-wide DNA methylation analysis of pediatric medulloblastomas from a Brazilian cohort: an exploratory study.

Clinical &amp; translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico
2026

DNMT3A R882C variant in a patient with a presumed pineal gland tumor, highlighting potential tumor susceptibility in Tatton-Brown-Rahman syndrome.

Cancer genetics
2026

Medulloblastoma masquerading as tuberculous meningitis in a pediatric patient.

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

TrkA activation sustains chemotherapy resistance in chemotolerant medulloblastoma cells.

Acta neuropathologica communications
2026

Modeling pediatric brain tumors with human stem cells.

Frontiers in cellular neuroscience
2026

High human cytomegalovirus antigen expression in pediatric medulloblastoma tissue is associated with poor event-free survival.

Neuro-oncology advances
2026

Antigen Specificity and Cell Engineering Determine CAR T Cell Efficacy in Group 3 Medulloblastoma.

Research square
2026

Barriers to Receiving Proton-Craniospinal Irradiation for Pediatric Medulloblastoma Patients at a Rural Tertiary Care Center.

Cureus
2026

A Systematic Review and Meta-Analysis of Executive Function Outcomes in Pediatric Central Nervous System Tumor Survivors.

Actas espanolas de psiquiatria
2026

Use of Small-Molecule Inhibitors of CILK1 and AURKA as Cilia-Promoting Drugs to Decelerate Medulloblastoma Cell Replication.

Biomedicines
2026

Wnt Signaling in Tumorigenesis: From Molecular Mechanisms to Precision Therapeutic Targets.

Current topics in medicinal chemistry
2026

Clinical and translational progress in oncolytic virotherapy for pediatric CNS tumors.

Journal of neuro-oncology
2026

Phosphoenolpyruvate carboxykinase 2 as a prognostic biomarker: expression and clinical significance in Group 3 and Group 4 medulloblastoma.

Journal of neuro-oncology
2026

Dual PI3K/AKT and CDK4/6 inhibition reveals selective sensitivity in an SHH medulloblastoma stem cell model.

Molecular oncology
2026

Distinct cMET inhibitors uncover pharmacological heterogeneity in SHH medulloblastoma cell lines.

Discover oncology
2026

Development of an integrated risk stratification model for metastatic medulloblastoma (M2/3) using clinical, radiologic, and molecular variables.

Neuro-oncology advances
2026

Primary leptomeningeal medulloblastoma presenting with occipitalgia.

Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia
2026

Long-Term Outcomes Associated With Posterior Fossa Syndrome in Survivors of Childhood Medulloblastoma.

JAMA network open
2026

Radiological Spectrum of Leptomeningeal Medulloblastoma: A Case-Based Literature Review With an Additional Case Report.

Cureus
2026

Spatiotemporal Role of GLI2 in Driving SHH-Medulloblastoma Tumorigenesis.

Neuro-oncology
2026

Building a new arsenal: repurposed drugs and metronomic chemotherapy against medulloblastoma.

Expert review of neurotherapeutics
2026

Neurosurgical practice and its influence on postoperative paediatric cerebellar mutism syndrome-the Alder Hey experience.

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

Biostatistical benchmarking of neuro-oncology trials.

Neuro-oncology advances
2026

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

The Journal of clinical endocrinology and metabolism
2026

Update to non-medulloblastoma embryonal tumours: What neuroradiologists should know.

Radiologia
2026

7,7"-dimethoxyagastisflavone induced MYCN/MYBL2-dependent apoptosis and metabolism reprogramming in Sonic Hedgehog medulloblastoma.

Journal of translational medicine
2026

Orphan G protein-coupled receptor GPR137 regulates ferroptosis by targeting the Wnt/β-catenin pathway in sonic hedgehog-medulloblastoma.

Translational cancer research
2026

Research progress on the Sonic Hedgehog signaling pathway in the central nervous system: Novel insights.

Neural regeneration research
2026

Detection of structural DNA variants in medulloblastomas using optical genome mapping.

Acta neuropathologica communications
2026

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

BMC cancer
2026

[Deep Learning-Based Automated Segmentation Algorithms of Brain and Vertebral Substructures for Radiotherapy in Pediatric Medulloblastoma].

Zhongguo yi liao qi xie za zhi = Chinese journal of medical instrumentation
2026

Influence of subgroup, location, and tumor volume in medulloblastoma surgery and consideration for second look surgery: a single institution experience.

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

Overcoming the leptomeningeal seeding of medulloblastoma by targeting HSP70.

Translational oncology
2025

Study of interferon-stimulated gene 15 expression in the medulloblastoma context.

European cytokine network
2026

Stage at Diagnosis and International Survival Variation in Childhood Tumors in the BENCHISTA Study.

JAMA network open
2026

Mitogen-Activated Protein Kinase-3 (MAPK3) Is the Main Target of Microsecond Pulsed Electric Field in Human Medulloblastoma.

Asian Pacific journal of cancer prevention : APJCP
2026

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

Spectrochimica acta. Part A, Molecular and biomolecular spectroscopy
2026

MIF-CD74 signaling drives immune modulation in medulloblastoma.

Neuro-oncology
2026

Male-biased Yap1-Cd276/B7-H3 axis for immune evasion in medulloblastoma.

Cancer cell
2026

[Pediatric neuro-oncology in French-speaking Africa: Current status and challenges].

Bulletin du cancer
2025

Metastatic extra-axial medulloblastoma involving the trigeminal nerve: a rare prognostic entity with a comprehensive literature review.

Frontiers in oncology
2026

Childhood brain tumors instruct cranial hematopoiesis and immunotolerance.

Nature genetics
2025

Role of 5-Aminolevulinic Acids in Brain Tumor Surgeries in Pediatrics: A Systematic Review of Case Reports and Series.

Cureus
2026

An Evaluation of MACSima and PhenoCycler-Fusion for Spatial Image Analysis in a Medulloblastoma Xenograft Model.

Microscopy research and technique
2026

Sonic Hedgehog Pathway Modulation in Medulloblastoma: Focus on Vismodegib (GDC-0449).

Developmental neurobiology
2026

Machine learning-based identification of extracellular matrix-related prognostic subtypes in SHH-activated medulloblastoma.

Discover oncology
2026

Mitoxantrone alters CD24/Siglec-10 expression in malignant brain tumor models.

Scientific reports
2026

Exploring the prognostic molecular mechanisms of medulloblastoma through methylation-transcriptome integration.

SAGE open medicine
2026

Tropism Profiling of Lentiviral Vector Pseudotypes in Diverse Brain Tumor Models.

Pharmaceutics
2026

Rab24 protein levels show dynamic changes in mouse tissues and human cancers.

Cell and tissue research
2026

A feasibility study of functional preservation in craniospinal irradiation with photon for pediatric medulloblastoma.

Journal of applied clinical medical physics
2026

Preclinical drug screen identifies WEE1 inhibitor and vinca alkaloid as a combination treatment concept for Li-Fraumeni syndrome medulloblastoma.

iScience
2026

Switching off CK2-mediated activation of survivin offers new therapeutic opportunities in neuroblastoma.

Experimental &amp; molecular medicine
2026

RaMBat: Accurate identification of medulloblastoma subtypes from diverse data sources with severe batch effects.

Molecular oncology
2026

Clonal Profiles in a Li-Fraumeni Syndrome Patient With SHH Medulloblastoma: Clonal Evolution, Genomics, and Clinical Implications.

Pediatric blood &amp; cancer
2026

Profiling T-cell activity and exclusion in pediatric medulloblastoma highlights immunotherapy-responsive subgroups.

Journal of neuro-oncology
2026

High-dose chemotherapy and craniospinal irradiation-sparing approach for WNT medulloblastoma of early childhood.

Journal of neuro-oncology
2026

Pre-operative and intra-operative risk factors of post-operative cerebellar mutism syndrome in pediatric patients undergoing posterior fossa tumor surgery: a systematic review.

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

Multiomic integration reveals tumoral heterogeneity of lipid dependence within lethal group 3 medulloblastoma.

Cancer cell
2026

AlphaFold3 predictions of novel GLI-SUFU interfaces identify binding-defective SUFU missense variants from medulloblastoma and Gorlin Syndrome patients.

bioRxiv : the preprint server for biology
2026

Preclinical assessment of checkpoint blockade combined with DNA methyltransferase inhibition in high-risk pediatric brain tumors reveals limited therapeutic synergy.

Neuro-oncology advances
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

Children's outcomes in medulloblastoma proton versus photon craniospinal radiotherapy (CURE): meta-analysis.

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

Significance of LEF1, ROR2, Cyclin D1, and DNA Methylation Profiling in the Molecular Classification and Prognosis Prediction of Pediatric Medulloblastoma.

Balkan medical journal
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)
2025

Erythrocyte-microglia crosstalk contributing to sex differences in pediatric brain tumorigenesis.

Research square
2025

Cellular cannibalism in cytology: a distinctive feature of large cell/anaplastic medulloblastoma in a pediatric case.

Reports of practical oncology and radiotherapy : journal of Greatpoland Cancer Center in Poznan and Polish Society of Radiation Oncology
2026

Tumor-suppressive activities of SA1/STAG2 and effects of PARP impairment during brain development.

Disease models &amp; mechanisms
2025

Methylation profiling in neuropathological tumors diagnosis: a comprehensive review.

Frontiers in oncology
2026

Intraoperative drug delivery to hindbrain tumours via an injectable hydrogel is well tolerated and confers survival benefit against atypical teratoid/rhabdoid xenografts.

Drug delivery and translational research
2026

Hsa_circ_PCNT sponges hsa-miR-133b to promote SHH medulloblastoma via TAGLN2.

Cellular and molecular life sciences : CMLS
2026

Organ-specific low-dose assessment in pediatric radiotherapy using nanodot OSL and NTCP modeling: Application to medulloblastoma.

Journal of applied clinical medical physics
2025

Subtype-Specific mRNA Signatures of Human Ribosomal Proteins in Pediatric Cancers.

International journal of molecular sciences
2025

Strategies for the Molecular Classification of Medulloblastoma.

Biomedicines
2025

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

Neuro-oncology practice
2026

Tuning the thermostat. Beyond hot and cold in the medulloblastoma tumor microenvironment.

EBioMedicine
2025

Intratumoral heterogeneity of MYC status and methylation subtyping in group 3 medulloblastoma: A case report.

Journal of neuropathology and experimental neurology
2025

Nanoparticulate delivery and targeting of RNA to the brain.

Biochimica et biophysica acta. Reviews on cancer
2025

Outcomes and Toxicity of Adult Medulloblastoma Treated with Pediatric Multimodal Protocols: A Single-Institution Experience.

Oncology research
2026

Posterior Fossa Group A Ependymoma in Trisomy 21.

Neuropathology : official journal of the Japanese Society of Neuropathology
2025

Human stem cell models for group 3 medulloblastoma uncover JARID1B as a regulator of the chromatin landscape.

bioRxiv : the preprint server for biology
2026

Identification of Raptor and GLI1 as USP37 substrates highlight its context-specific function in medulloblastoma cells.

Oncogene
2025

Global patterns and trends in brain and central nervous system tumors incidence by histological subtype in 185 Countries in 2022: a population-based study.

International journal of surgery (London, England)
2025

Functional and therapeutic effects of Glabrescione B delivery by liposomes on Hedgehog-dependent tumors.

Drug delivery and translational research
2025

Transcriptional regulation of protein synthesis by mediator kinase represents a therapeutic vulnerability in MYC-driven medulloblastoma.

Nature communications
2025

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

Epidemiologia e prevenzione
2026

A functionally relevant model for interrogating brain tumor-endothelial cell interactions.

Journal of neuroscience methods
2025

Maternal Autoimmune Disease and the Risk of Childhood Cancer Among the Offspring: A Population-Based Cohort Study in Taiwan.

International journal of rheumatic diseases
2025

An integrated approach to molecular profiling supports precision diagnosis of pediatric medulloblastoma in Argentina amid the resource-constrained setting.

Scientific reports
2025

[Endocrine Complications and Their Management Following Treatment of Pediatric Brain Tumors].

No shinkei geka. Neurological surgery
2025

[Current Status and Prospects of Clinical Trials for Medulloblastoma and Atypical Teratoid/Rhabdoid Tumor].

No shinkei geka. Neurological surgery
2025

[Current Imaging Approaches for Pediatric Brain Tumors].

No shinkei geka. Neurological surgery
2025

[Molecular Classification of Medulloblastoma].

No shinkei geka. Neurological surgery
2026

Albacarcin V adds EPLIN as a novel and promising target for the treatment of female cancers and pediatric medulloblastoma.

Biochemical pharmacology
2025

Descriptive and molecular analysis of pineal parenchymal tumors with clinical correlation.

BMC cancer
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

Transient visual loss following endoscopic third ventriculostomy in a child with a posterior fossa tumour: consideration of intracranial pressure control.

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

Exposure to Acetaminophen (Paracetamol) during Pregnancy and Childhood Cancer: A Population-Based Cohort Study in Taiwan.

Cancer epidemiology, biomarkers &amp; prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology
2025

Targeting TET3 suppresses group 3 medulloblastoma stemness and progression via impairing hypomethylation of Otx2 super-enhancer.

Cell reports. Medicine
2025

Hidden-driver inference reveals synergistic brain-penetrant therapies for medulloblastoma.

bioRxiv : the preprint server for biology
2025

PIEZO2 in tumors: from mechanobiological switches to activity-targeted therapies.

Journal of experimental &amp; clinical cancer research : CR
2025

National multicentered retrospective review of salvage therapy for pediatric medulloblastoma: a Canadian experience.

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

Trends of hospital-based reporting of intracranial neoplasms in Nigeria from 1960 to 2024: A systematic review and pooled analysis of literatures.

Neuro-oncology advances
2025

GPC6 facilitates progression of SHH-subgroup medulloblastoma by enhancing Hedgehog secretion and signaling responses.

Journal of biomedical research
2026

Targeting ERAP1 to disarm Gli activation in Sonic Hedgehog medulloblastoma.

Molecular therapy : the journal of the American Society of Gene Therapy
2026

Medulloblastoma stem cell programs: Molecular roadmaps of disease progression.

Developmental cell
2025

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

Frontiers in oncology
2025

In silico drug sensitivity predicts subgroup-specific therapeutics in medulloblastoma patients.

Scientific reports
2025

Exploring Novel Applications: Repositioning Clinically Approved Therapies for Medulloblastoma Treatment.

Cancers
2025

Elucidating Neurodevelopmental Trajectories in Cancer with Topic Modeling: Revealing Persistent External Granule Layer Lineages in Medulloblastoma.

bioRxiv : the preprint server for biology
2025

Single-cell multi-omics identifies metabolism-linked epigenetic reprogramming as a driver of therapy-resistant medulloblastoma.

Nature communications
2025

Medulloblastoma Presenting With Bilateral Internuclear Ophthalmoplegia of Abduction: A Case Report.

Cureus
2025

IDH mutations are rare events in SHH medulloblastoma.

Acta neuropathologica
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

Profiling tumour-infiltrating immune cells in a large paediatric medulloblastoma cohort: a retrospective analysis.

EBioMedicine
2025

A Rare Case of Bone Marrow Infiltration of Disseminated Medulloblastoma in a Young Adult.

International journal of hematology-oncology and stem cell research
2025

Epigenomic landscape of the developing human rhombic lip reveals gene regulatory network and non-coding loci of developmental, evolutionary, and disease relevance.

bioRxiv : the preprint server for biology
2025

Hierarchical regulation of cerebellar neurogenesis by Sin3A-mediated gene repression.

bioRxiv : the preprint server for biology
2026

Central Nervous System Embryonal Tumors.

Neuroimaging clinics of North America
2025

Non-WNT/non-SHH medulloblastoma in siblings: case report and literature review.

Discover oncology
2025

AhR-Siglec-15 axis regulates lysosomal Ca2+ release for sonic hedgehog medulloblastoma growth via TRPML1.

Protein &amp; cell
2025

Adult Medulloblastoma Presenting With Audiovestibular Symptoms and an Alternating Unterberger Test.

Cureus
2025

Interferon Restores Antigen Presentation and Sensitizes Medulloblastoma to T Cell Killing.

bioRxiv : the preprint server for biology
2025

Surgical management and outcome of medulloblastoma patients at Addis Ababa between 2010 and 2018.

Frontiers in oncology
2025

Bayesian reappraisal of ACNS0332 and ACNS0334 strengthens subgroup treatment effects in high-risk pediatric Group 3 medulloblastoma.

Neuro-oncology
2025

[Plasma lipidomics-based exploration of potential biomarkers of metastasis in pediatric medulloblastoma].

Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics
2025

CMKLR1/PKA signaling reinforces sonic hedgehog pathway to promote medulloblastoma pathogenesis.

Oncogenesis
2025

Challenges and opportunities for treatment of medulloblastoma.

Advances in cancer research
2025

Single-Cell Heterogeneity of Epigenetic Factor Regulation Deciphers Alteration of RNA Metabolism During Proliferative SHH-Medulloblastoma.

Cancers
2025

18F-FDG versus 18F-FDOPA PET in recurrent medulloblastoma: a case study and literature review.

EJNMMI reports
2025

Genetic markers and canonical pathways associated with medulloblastoma: a systematic review and meta-analysis.

Translational pediatrics
2025

Long-Term Disease-Free Survival Without Radiotherapy in a Pediatric Patient With Neurofibromatosis Type 1-Associated Medulloblastoma: A Case Report.

Cureus
2025

Out-of-field dosimetry in VMAT for medulloblastoma using OSLDs.

Radiation protection dosimetry
2026

Single-cell deconstruction of medulloblastoma microenvironment elucidates subtype-specific immune architectures and prognostic molecular signatures.

Cancer letters
2025

Hypercalcemia associated with relapsed medulloblastoma due to bone metastasis: illustrative case.

Journal of neurosurgery. Case lessons
2025

Ambient ionization mass spectrometry in brain cancer diagnosis.

Journal of mass spectrometry and advances in the clinical lab
2025

Molecular subgrouping of pediatric medulloblastoma by mismatch between molecular and structural MRI.

Quantitative imaging in medicine and surgery
2025

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

Acta neuropathologica communications
2026

An Exploratory Application of a Central Nervous System (CNS) Tumor Methylation Classifier in Ovarian Neuroectodermal Tumors.

Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc
2026

Exploring the causal relationship between telomere regulation, aging and neurological disorders.

Ageing research reviews
2025

Mechanistic insights into pharmacokinetic interactions between simvastatin and vismodegib: Implications for optimization of combination therapy in medulloblastoma.

Biochemical and biophysical research communications
2025

Beyond cell-cell contact: therapeutic potential of Eph signaling in central nervous system tumors.

Frontiers in molecular neuroscience
2025

Genome-wide methylation and copy number variation analysis of medulloblastoma in a Saudi Arabian pediatric population.

Annals of medicine and surgery (2012)
2025

The MYC-dependent lncRNA MB3 inhibits apoptosis in Group 3 Medulloblastoma by regulating the TGF-β pathway via HMGN5.

Cell death &amp; disease
2025

Medulloblastoma chapter - past perspectives and future directions.

Advances in cancer research
2025

The Medulloblastoma Meta-Analysis Portal Enables Integrative Exploration of Clinical and Genomic Data from Patients.

Cancer research
2025

The value of cerebrospinal fluid cytology in the diagnosis of atypical medulloblastoma: a case report and review of the literature.

Frontiers in medicine
2025

Inflammation accelerates metastasis: Medulloblastoma leptomeningeal dissemination.

Developmental cell
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

Therapy-related acute myeloid leukemia following aggressive treatment for pediatric medulloblastoma: a case report of a 13-year-old and review of literature.

Annals of medicine and surgery (2012)
2025

A case of basal cell nevus syndrome with a SUFU mutation.

Dermatology online journal
2025

Multimodal pathomics and clinical features predict postresection permanent hydrocephalus in pediatric medulloblastoma.

Journal of neuro-oncology
2025

A rare case of atypical teratoid rhabdoid tumor (AT/RT) with homozygous SMARCB1 loss and one concurrent somatic heterozygous SMARCA4 variant.

Acta neuropathologica communications
2026

Advancing Medulloblastoma Treatment: Molecular Mechanisms, Drug Repurposing, and Precision Therapies.

Molecular diagnosis &amp; therapy
2025

Whole genome sequencing-based analysis of genetic predisposition to adult glioblastoma.

NPJ genomic medicine
2025

Global lncRNA expression profiles in medulloblastoma reveal crucial lncRNA-oncogene interactions in Sonic hedgehog and Group 4.

Neuro-oncology advances
2026

Late Effects in Survivors of Pediatric Medulloblastoma: A Comprehensive Review.

Pediatric blood &amp; cancer
2025

Clinical, toxicity and long-term neurocognitive outcomes of first-line intensive chemotherapy in infant medulloblastoma: a single-center cohort study following AIEOP recommendations.

Journal of neuro-oncology
2026

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

Neuro-oncology
2026

An integrated analysis of three medulloblastoma clinical trials refines risk-stratification approaches for reducing toxicity and improving survival.

Neuro-oncology
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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. Extraneural metastases of pediatric brain tumors: a systematic review.
    Journal of neurosurgery. Pediatrics· 2026· PMID 41871436mais citado
  2. A photoreceptor state links aggressive brain tumors in children.
    Cancer cell· 2026· PMID 41861823mais citado
  3. Orthogonal disentanglement of single-cell multi-omics reveals private and shared drivers of tissue development and pathogenesis.
    Proceedings of the National Academy of Sciences of the United States of America· 2026· PMID 41849387mais citado
  4. A transcription regulator atlas identifies TOX3 as an Atoh1 coactivator in cerebellar development and tumorigenesis.
    Proceedings of the National Academy of Sciences of the United States of America· 2026· PMID 41849381mais citado
  5. Longitudinal Detection of Tumor-Specific Peptides in Cerebrospinal Fluid for Pediatric Brain Tumor Surveillance.
    Cells· 2026· PMID 41827907mais citado
  6. Nanoparticle-delivered resiquimod induces brain tumor regression in medulloblastoma and diffuse midline glioma models by interrupting paracrine growth support and activating myeloid immune signaling and phagocytosis.
    bioRxiv· 2026· PMID 41993485recente
  7. Patient-derived pediatric brain tumor orthotopic xenografts and tumor organoids faithfully recapitulate primary tumors.
    Sci Adv· 2026· PMID 41984959recente
  8. Harnessing Phytochemicals for Brain Cancer Therapy: Insights Into Medulloblastoma and Glioblastoma Treatment.
    Phytochem Anal· 2026· PMID 41983502recente
  9. Radiation-Induced Sphenoid Wing Meningioma After Childhood Medulloblastoma: A Case Report.
    Cureus· 2026· PMID 41982596recente
  10. AMBRA1 enhances Sonic Hedgehog signaling during cerebellar development and in medulloblastoma.
    Dev Cell· 2026· PMID 41980781recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:616(Orphanet)
  2. OMIM OMIM:155255(OMIM)
  3. MONDO:0007959(MONDO)
  4. GARD:7005(GARD (NIH))
  5. Variantes catalogadas(ClinVar)
  6. Busca completa no PubMed(PubMed)
  7. Artigo Wikipedia(Wikipedia)
  8. Q1333608(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

Meduloblastoma
Compêndio · Raras BR

Meduloblastoma

ORPHA:616 · MONDO:0007959
Prevalência
1-9 / 100 000
Herança
Not applicable
CID-10
C71.6 · Neoplasia maligna do cerebelo
CID-11
Ensaios
36 ativos
Início
All ages
Prevalência
1.0 (Europe)
MedGen
UMLS
C0025149
Repurposing
2 candidatos
carmustineDNA alkylating agent|DNA inhibitor
trofosfamideDNA alkylating agent
EuropePMC
Wikidata
Wikipedia
Papers 10a
DiscussaoAtiva

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