Um tipo de tumor cerebral, o astrocitoma, que é considerado de baixo grau (grau II pela Organização Mundial da Saúde - OMS). Ele se caracteriza por se espalhar de forma difusa pelas estruturas vizinhas do sistema nervoso central (cérebro e medula espinhal). Esses tumores geralmente afetam adultos jovens e têm a tendência de progredir para formas mais agressivas, como o astrocitoma anaplásico e o glioblastoma. Com base na presença ou ausência de uma mutação nos genes IDH, os astrocitomas difusos são classificados como: IDH-mutante, IDH-tipo selvagem (quando não há a mutação) e não especificado de outra forma.
Introdução
O que você precisa saber de cara
Um tipo de tumor cerebral, o astrocitoma, que é considerado de baixo grau (grau II pela Organização Mundial da Saúde - OMS). Ele se caracteriza por se espalhar de forma difusa pelas estruturas vizinhas do sistema nervoso central (cérebro e medula espinhal). Esses tumores geralmente afetam adultos jovens e têm a tendência de progredir para formas mais agressivas, como o astrocitoma anaplásico e o glioblastoma. Com base na presença ou ausência de uma mutação nos genes IDH, os astrocitomas difusos são classificados como: IDH-mutante, IDH-tipo selvagem (quando não há a mutação) e não especificado de outra forma.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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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
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
1 gene identificado com associação a esta condição.
Plays a role in intermediary metabolism and energy production (PubMed:19228619, PubMed:22416140). It may tightly associate or interact with the pyruvate dehydrogenase complex (PubMed:19228619, PubMed:22416140)
Mitochondrion
D-2-hydroxyglutaric aciduria 2
A neurometabolic disorder causing developmental delay, epilepsy, hypotonia, and dysmorphic features. Both a mild and a severe phenotype exist. The severe phenotype is homogeneous and is characterized by early infantile-onset epileptic encephalopathy and cardiomyopathy. The mild phenotype has a more variable clinical presentation. Diagnosis is based on the presence of an excess of D-2-hydroxyglutaric acid in the urine.
Variantes genéticas (ClinVar)
82 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 1 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
4 vias biológicas associadas aos genes desta condição.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Astrocitoma difuso
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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
Ensaios em destaque
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6 pesquisas recrutando participantes. Converse com seu médico sobre a possibilidade de participar.
Outros ensaios clínicos
83 ensaios clínicos encontrados, 11 ativos.
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The American journal of surgical pathologyIllustration of the Added Value of 18F-DOPA PET to Multimodal MRI to Distinguish Low- and High-Grade Gliomas.
Clinical nuclear medicineT2-FLAIR Mismatch Sign and Response to Radiotherapy in Diffuse Intrinsic Pontine Glioma.
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British journal of neurosurgeryDiffuse astrocytoma and the diagnostic dilemma of an unusual phenotype: A case report.
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British journal of neurosurgerySurgical treatment and neurological outcome of infiltrating intramedullary astrocytoma WHO II-IV: a multicenter retrospective case series.
Journal of neuro-oncology[Diffuse Astrocytoma with Malignant Progression after Long-term Temozolomide Monotherapy:A Case Report].
No shinkei geka. Neurological surgeryA Case of Diffuse Astrocytoma with 32-year Survival after Boron Neutron Capture Therapy.
NMC case report journalAdditional genetic alterations in BRAF-mutant gliomas correlate with histologic diagnoses.
Journal of neuro-oncologyA juvenile case of epilepsy-associated, isocitrate dehydrogenase wild-type/histone 3 wild-type diffuse glioma with a rare BRAF A598T mutation.
Neuropathology : official journal of the Japanese Society of NeuropathologyHistopathological Spectrum of Central Nervous System Tumors: an Experience at a Hospital in Nepal.
Journal of Nepal Health Research Council[Diffuse Leptomeningeal Glioneuronal Tumor with Subarachnoid Hemorrhage:A Case Report].
No shinkei geka. Neurological surgeryRisk Stratification in Low Grade Glioma: A Single Institutional Experience.
Neurology IndiaATM mutations improve radio-sensitivity in wild-type isocitrate dehydrogenase-associated high-grade glioma: retrospective analysis using next-generation sequencing data.
Radiation oncology (London, England)Surgical treatment of low-grade brain tumors associated with epilepsy.
International review of neurobiology99mTc-CXCR4-L for Imaging of the Chemokine-4 Receptor Associated with Brain Tumor Invasiveness: Biokinetics, Radiation Dosimetry, and Proof of Concept in Humans.
Contrast media & molecular imagingPediatric Low-Grade Gliomas.
CancersThe Diagnostic Value of Conventional MRI and CT Features in the Identification of the IDH1-Mutant and 1p/19q Co-Deletion in WHO Grade II Gliomas.
Academic radiologyNeuroimaging Findings in Children with Constitutional Mismatch Repair Deficiency Syndrome.
AJNR. American journal of neuroradiologyUnexpected discovery of a diffuse astrocytoma of the conus medullaris in an elderly NF1 patient.
Radiology case reportsEslicarbazepine in patients with brain tumor-related epilepsy: a single-center experience.
The International journal of neuroscience1p/19q co-deleted fibrillary astrocytomas: Not everything that is co-deleted is an oligodendroglioma.
Annals of diagnostic pathologyTextiloma Mimicking a Recurrent High-Grade Astrocytoma: A Case Report.
Journal of neurological surgery reportsT2-FLAIR mismatch sign in dysembryoplasticneuroepithelial tumor.
European journal of radiologyPrognostic Factors and Nomogram Predicting Survival in Diffuse Astrocytoma.
Journal of neurosciences in rural practiceHigh Dimensional Mass Cytometry Analysis Reveals Characteristics of the Immunosuppressive Microenvironment in Diffuse Astrocytomas.
Frontiers in oncologyMorphological and immunophenotypic characterization of perivascular interstitial cells in human glioma: Telocytes, pericytes, and mixed immunophenotypes.
OncotargetAssociation of the FGFR1 mutation with spontaneous hemorrhage in low-grade gliomas in pediatric and young adult patients.
Journal of neurosurgeryRisk stratification in pediatric low-grade glioma and glioneuronal tumor treated with radiation therapy: an integrated clinicopathologic and molecular analysis.
Neuro-oncologyExtent of resection and molecular pathologic subtype are potent prognostic factors of adult WHO grade II glioma.
Scientific reportsImmunohistochemical Expression of Epidermal Growth Factor Receptor in Astrocytic Tumors in Iraqi Patients.
Open access Macedonian journal of medical sciencesMolecular Aberrations Associated with Seizure Control in Diffuse Astrocytic and Oligodendroglial Tumors.
Neurologia medico-chirurgicaEpithelioid glioblastoma presenting as multicentric glioma: A case report and review of the literature.
Surgical neurology internationalSeizure freedom from recurrent insular low-grade glioma following laser interstitial thermal therapy.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgerySpinal rosette-forming glioneuronal tumor: A case report.
MedicineNatural History of Pediatric Low-Grade Glioma Disease - First Multi-State Model Analysis.
Journal of CancerGiant Cell-rich Tanycytic Ependymoma as Intramedullary Spinal Mass.
Neurology IndiaThe Korean Society for Neuro-Oncology (KSNO) Guideline for WHO Grade II Cerebral Gliomas in Adults: Version 2019.01.
Brain tumor research and treatmentFavorable prognosis in pediatric brainstem low-grade glioma: Report from the German SIOP-LGG 2004 cohort.
International journal of cancerIsomorphic diffuse glioma is a morphologically and molecularly distinct tumour entity with recurrent gene fusions of MYBL1 or MYB and a benign disease course.
Acta neuropathologicaEliciting Smiles and Laughter During Intraoperative Electric Stimulation of the Cingulum: Surgical Scenario.
World neurosurgeryAn autopsy case of widespread brain dissemination of glioblastoma unnoticed by magnetic resonance imaging after treatment with bevacizumab.
Surgical neurology internationalUsefulness and safety from stereotactic biopsy in posterior fossa lesions in adult patients.
Cirugia y cirujanosClinical relevance of molecular subgrouping of gliomatosis cerebri per 2016 WHO classification: a clinicopathological study of 89 cases.
Brain pathology (Zurich, Switzerland)Spectroscopic measurement of 5-ALA-induced intracellular protoporphyrin IX in pediatric brain tumors.
Acta neurochirurgicaClinical Significance of Molecular Diagnosis of Pilocytic Astrocytoma: A Case Report.
NMC case report journalReclassification of Mongolian Diffuse Gliomas According to the Revised 2016 World Health Organization Central Nervous System Tumor Classification.
Journal of pathology and translational medicineTumor-associated status epilepticus in patients with glioma: Clinical characteristics and outcomes.
Epilepsy & behavior : E&BBrain cancer survival in Canada 1996-2008: effects of sociodemographic characteristics.
Current oncology (Toronto, Ont.)Associações
Organizações que acompanham esta doença — pra ter apoio e orientação
Ainda não temos associações cadastradas para Astrocitoma difuso.
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Comunidades
Grupos ativos de quem convive com esta doença aqui no Raras
Ainda não existe comunidade no Raras para Astrocitoma difuso
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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.
- Eloquent glioma resection assisted by brain connectomics: A new tool for awake neurosurgery.
- A 57-year-old male with diffuse astrocytoma in the lateral ventricle: case report.
- Exploiting Metabolic Dependencies for Therapeutic Targeting of Brain Cancers.
- Pediatric low-grade epilepsy-associated tumors (LEATS): neuroimaging review and genetics update.
- Pediatric Diffuse Low-Grade Gliomas: Radiology, Symptoms, Treatment, and Molecular Pathways.
- Intrinsic pontine tumors: Pathology of brainstem tumors and exploration of diffuse intrinsic pontine glioma.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:251595(Orphanet)
- MONDO:0016686(MONDO)
- GARD:5907(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q55786375(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
