Raras
Buscar doenças, sintomas, genes...
Astrocitoma de alto grau
ORPHA:251561DOENÇA RARA

Um astrocitoma anaplásico (um tipo de tumor cerebral astrocítico de grau 3) ou um glioblastoma (um tipo de tumor cerebral astrocítico de grau 4).

Mantido por Agente Raras·Colaborar como especialista →

Introdução

O que você precisa saber de cara

📋

Um astrocitoma anaplásico (um tipo de tumor cerebral astrocítico de grau 3) ou um glioblastoma (um tipo de tumor cerebral astrocítico de grau 4).

Pesquisas ativas
16 ensaios
423 total registrados no ClinicalTrials.gov
Publicações científicas
405 artigos
Último publicado: 2026 Mar 31
Medicamentos
10 registrados
CARMUSTINE, BEVACIZUMAB, DEPATUXIZUMAB MAFODOTIN

Tem tratamento?

10 medicamentos registrados
Ver detalhes, fases e interações →
CARMUSTINEBEVACIZUMABDEPATUXIZUMAB MAFODOTINMARIZOMIBCILENGITIDEEDOTECARINHYDROXYUREACEDIRANIBIMATINIBIMATINIB MESYLATE
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SUS: Sem cobertura SUSScore: 0%
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Sinais e sintomas

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

Partes do corpo afetadas

🧠
Neurológico
3 sintomas
💪
Músculos
1 sintomas
👁️
Olhos
1 sintomas

+ 10 sintomas em outras categorias

Características mais comuns

Morfologia celular anormal
Edema cerebral
Morfologia anormal do corpo caloso
Cefaleia
Comprometimento da linguagem
Paralisia
15sintomas
Sem dados (15)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 15 características clínicas mais associadas, ordenadas por frequência.

Morfologia celular anormalAbnormal cell morphology
Edema cerebralCerebral edema
Morfologia anormal do corpo calosoAbnormal corpus callosum morphology
CefaleiaHeadache
Comprometimento da linguagemLanguage impairment

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Total histórico405PubMed
Últimos 10 anos158publicações
Pico202324 papers
Linha do tempo
2026Hoje · 2026🧪 1989Primeiro ensaio clínico📈 2023Ano 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

14 genes identificados com associação a esta condição.

IDH2Isocitrate dehydrogenase [NADP], mitochondrialCandidate gene tested inAltamente restrito
FUNÇÃO

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)

LOCALIZAÇÃO

Mitochondrion

VIAS BIOLÓGICAS (4)
Citric acid cycle (TCA cycle)Maturation of TCA enzymes and regulation of TCA cycleMitochondrial protein degradationTranscriptional activation of mitochondrial biogenesis
MECANISMO DE DOENÇA

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.

EXPRESSÃO TECIDUAL(Ubíquo)
Músculo esquelético
442.8 TPM
Coração - Ventrículo esquerdo
311.5 TPM
Rim - Medula
273.8 TPM
Linfócitos
186.0 TPM
Fígado
184.7 TPM
OUTRAS DOENÇAS (13)
d-2-hydroxyglutaric aciduria 2anaplastic oligodendrogliomagemistocytic astrocytomaoligoastrocytoma
HGNC:5383UniProt:P48735
FGFR1Fibroblast growth factor receptor 1Candidate gene tested inAltamente restrito
FUNÇÃO

Tyrosine-protein kinase that acts as a cell-surface receptor for fibroblast growth factors and plays an essential role in the regulation of embryonic development, cell proliferation, differentiation and migration. Required for normal mesoderm patterning and correct axial organization during embryonic development, normal skeletogenesis and normal development of the gonadotropin-releasing hormone (GnRH) neuronal system. Phosphorylates PLCG1, FRS2, GAB1 and SHB. Ligand binding leads to the activati

LOCALIZAÇÃO

Cell membraneNucleusCytoplasm, cytosolCytoplasmic vesicle

VIAS BIOLÓGICAS (2)
Epithelial-Mesenchymal Transition (EMT) during gastrulationFormation of paraxial mesoderm
MECANISMO DE DOENÇA

Pfeiffer syndrome

A syndrome characterized by the association of craniosynostosis, broad and deviated thumbs and big toes, and partial syndactyly of the fingers and toes. Three subtypes are known: mild autosomal dominant form (type 1); cloverleaf skull, elbow ankylosis, early death, sporadic (type 2); craniosynostosis, early demise, sporadic (type 3).

EXPRESSÃO TECIDUAL(Ubíquo)
Aorta
144.8 TPM
Ovário
142.9 TPM
Artéria tibial
134.1 TPM
Fallopian Tube
122.3 TPM
Cérebro - Hemisfério cerebelar
122.0 TPM
OUTRAS DOENÇAS (20)
Hartsfield-Bixler-Demyer syndromeencephalocraniocutaneous lipomatosisosteoglophonic dysplasiaPfeiffer syndrome
HGNC:3688UniProt:P11362
TACC1Transforming acidic coiled-coil-containing protein 1Candidate gene tested inTolerante
FUNÇÃO

Involved in transcription regulation induced by nuclear receptors, including in T3 thyroid hormone and all-trans retinoic acid pathways (PubMed:20078863). Might promote the nuclear localization of the receptors (PubMed:20078863). Likely involved in the processes that promote cell division prior to the formation of differentiated tissues

LOCALIZAÇÃO

CytoplasmNucleusCytoplasm, cytoskeleton, microtubule organizing center, centrosomeMidbodyMembrane

VIAS BIOLÓGICAS (1)
Signaling by plasma membrane FGFR1 fusions
EXPRESSÃO TECIDUAL(Ubíquo)
Nervo tibial
142.9 TPM
Esôfago - Muscular
140.6 TPM
Útero
124.4 TPM
Esôfago - Junção
122.5 TPM
Tecido adiposo
119.2 TPM
OUTRAS DOENÇAS (2)
giant cell glioblastomagliosarcoma
HGNC:11522UniProt:O75410
ROS1Proto-oncogene tyrosine-protein kinase ROSCandidate gene tested inTolerante
FUNÇÃO

Receptor tyrosine kinase (RTK) that plays a role in epithelial cell differentiation and regionalization of the proximal epididymal epithelium. NELL2 is an endogenous ligand for ROS1. Upon endogenous stimulation by NELL2, ROS1 activates the intracellular signaling pathway and triggers epididymal epithelial differentiation and subsequent sperm maturation (By similarity). May activate several downstream signaling pathways related to cell differentiation, proliferation, growth and survival including

LOCALIZAÇÃO

Cell membrane

EXPRESSÃO TECIDUAL(Tecido-específico)
Pulmão
11.1 TPM
Fibroblastos
3.0 TPM
Testículo
1.0 TPM
Córtex cerebral
0.8 TPM
Brain Frontal Cortex BA9
0.8 TPM
OUTRAS DOENÇAS (2)
cholangiocarcinomagiant cell glioblastoma
HGNC:10261UniProt:P08922
IDH1Isocitrate dehydrogenase [NADP] cytoplasmicCandidate gene tested inTolerante
FUNÇÃO

Catalyzes the NADP(+)-dependent oxidative decarboxylation of isocitrate (D-threo-isocitrate) to 2-ketoglutarate (2-oxoglutarate), which is required by other enzymes such as the phytanoyl-CoA dioxygenase (PubMed:10521434, PubMed:19935646). Plays a critical role in the generation of NADPH, an important cofactor in many biosynthesis pathways (PubMed:10521434). May act as a corneal epithelial crystallin and may be involved in maintaining corneal epithelial transparency (By similarity)

LOCALIZAÇÃO

Cytoplasm, cytosolPeroxisome

VIAS BIOLÓGICAS (3)
NADPH regenerationNFE2L2 regulating TCA cycle genesPeroxisomal protein import
MECANISMO DE DOENÇA

Glioma

Gliomas are benign or malignant central nervous system neoplasms derived from glial cells. They comprise astrocytomas and glioblastoma multiforme that are derived from astrocytes, oligodendrogliomas derived from oligodendrocytes and ependymomas derived from ependymocytes.

EXPRESSÃO TECIDUAL(Ubíquo)
Glândula adrenal
266.5 TPM
Fígado
100.4 TPM
Esôfago - Mucosa
99.8 TPM
Tecido adiposo
81.8 TPM
Próstata
77.7 TPM
OUTRAS DOENÇAS (7)
Maffucci syndromemetaphyseal chondromatosis with D-2-hydroxyglutaric aciduriaacute myeloid leukemia with multilineage dysplasiaOllier disease
HGNC:5382UniProt:O75874
PPARGPeroxisome proliferator-activated receptor gammaCandidate gene tested inModerado
FUNÇÃO

Ligand-activated transcription factor that forms obligate heterodimers with the retinoic acid receptor and acts as a key regulator of biological processes, such as adipocyte differentiation, lipid metabolism, glucose homeostasis and beta-oxidation of fatty acids (PubMed:16150867, PubMed:20829347, PubMed:23525231, PubMed:8702406, PubMed:8706692, PubMed:9065481). Activated by lipid ligands: binds peroxisome proliferators, such as hypolipidemic drugs, and fatty acids, such as prostaglandin J2 metab

LOCALIZAÇÃO

NucleusCytoplasm

VIAS BIOLÓGICAS (7)
Regulation of PTEN gene transcriptionTranscriptional regulation of white adipocyte differentiationPPARA activates gene expressionMECP2 regulates transcription factorsNuclear Receptor transcription pathway
EXPRESSÃO TECIDUAL(Ubíquo)
Tecido adiposo
111.2 TPM
Adipose Visceral Omentum
100.8 TPM
Mama
71.3 TPM
Cólon transverso
21.6 TPM
Fibroblastos
20.4 TPM
OUTRAS DOENÇAS (6)
type 2 diabetes mellitusPPARG-related familial partial lipodystrophyinherited obesitygliosarcoma
HGNC:9236UniProt:P37231
SEPTIN14Septin-14Candidate gene tested inTolerante
FUNÇÃO

Filament-forming cytoskeletal GTPase (Probable). Involved in the migration of cortical neurons and the formation of neuron leading processes during embryonic development (By similarity). Plays a role in sperm head formation during spermiogenesis, potentially via facilitating localization of ACTN4 to cell filaments (PubMed:33228246)

LOCALIZAÇÃO

CytoplasmCytoplasm, cytoskeletonCell projection, axonCell projection, dendritePerikaryonCytoplasm, perinuclear regionCytoplasmic vesicle, secretory vesicle, acrosome

OUTRAS DOENÇAS (2)
gliosarcomagiant cell glioblastoma
HGNC:33280UniProt:Q6ZU15
EGFREpidermal growth factor receptorCandidate gene tested inRestrito
FUNÇÃO

Receptor tyrosine kinase binding ligands of the EGF family and activating several signaling cascades to convert extracellular cues into appropriate cellular responses (PubMed:10805725, PubMed:27153536, PubMed:2790960, PubMed:35538033). Known ligands include EGF, TGFA/TGF-alpha, AREG, epigen/EPGN, BTC/betacellulin, epiregulin/EREG and HBEGF/heparin-binding EGF (PubMed:12297049, PubMed:15611079, PubMed:17909029, PubMed:20837704, PubMed:27153536, PubMed:2790960, PubMed:7679104, PubMed:8144591, PubM

LOCALIZAÇÃO

Cell membraneEndoplasmic reticulum membraneGolgi apparatus membraneNucleus membraneEndosomeEndosome membraneNucleusSecreted

VIAS BIOLÓGICAS (10)
Signaling by EGFRInhibition of Signaling by Overexpressed EGFRSignaling by ERBB2Signaling by ERBB4Signaling by ERBB2 TMD/JMD mutants
MECANISMO DE DOENÇA

Lung cancer

A common malignancy affecting tissues of the lung. The most common form of lung cancer is non-small cell lung cancer (NSCLC) that can be divided into 3 major histologic subtypes: squamous cell carcinoma, adenocarcinoma, and large cell lung cancer. NSCLC is often diagnosed at an advanced stage and has a poor prognosis.

EXPRESSÃO TECIDUAL(Ubíquo)
Skin Sun Exposed Lower leg
78.3 TPM
Skin Not Sun Exposed Suprapubic
75.9 TPM
Fibroblastos
60.6 TPM
Nervo tibial
43.1 TPM
Vagina
40.6 TPM
OUTRAS DOENÇAS (4)
inflammatory skin and bowel disease, neonatal, 2lung cancergliosarcomagiant cell glioblastoma
HGNC:3236UniProt:P00533
LZTR1Leucine-zipper-like transcriptional regulator 1Candidate gene tested inTolerante
FUNÇÃO

Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complex that mediates ubiquitination of Ras (K-Ras/KRAS, N-Ras/NRAS and H-Ras/HRAS) (PubMed:30442762, PubMed:30442766, PubMed:30481304). Is a negative regulator of RAS-MAPK signaling that acts by controlling Ras levels and decreasing Ras association with membranes (PubMed:30442762, PubMed:30442766, PubMed:30481304)

LOCALIZAÇÃO

Endomembrane systemRecycling endosomeGolgi apparatus

MECANISMO DE DOENÇA

Glioma

Gliomas are benign or malignant central nervous system neoplasms derived from glial cells. They comprise astrocytomas and glioblastoma multiforme that are derived from astrocytes, oligodendrogliomas derived from oligodendrocytes and ependymomas derived from ependymocytes.

EXPRESSÃO TECIDUAL(Ubíquo)
Pituitária
76.5 TPM
Nervo tibial
68.8 TPM
Útero
67.8 TPM
Cervix Ectocervix
65.1 TPM
Cervix Endocervix
61.7 TPM
OUTRAS DOENÇAS (9)
Noonan syndrome 10RASopathyNoonan syndrome 2cafe au lait spots, multiple
HGNC:6742UniProt:Q8N653
TACC3Transforming acidic coiled-coil-containing protein 3Candidate gene tested inTolerante
FUNÇÃO

Plays a role in the microtubule-dependent coupling of the nucleus and the centrosome. Involved in the processes that regulate centrosome-mediated interkinetic nuclear migration (INM) of neural progenitors (By similarity). Acts as a component of the TACC3/ch-TOG/clathrin complex proposed to contribute to stabilization of kinetochore fibers of the mitotic spindle by acting as inter-microtubule bridge. The TACC3/ch-TOG/clathrin complex is required for the maintenance of kinetochore fiber tension (P

LOCALIZAÇÃO

CytoplasmCytoplasm, cytoskeleton, microtubule organizing center, centrosomeCytoplasm, cytoskeleton, spindleCytoplasm, cytoskeleton, spindle pole

VIAS BIOLÓGICAS (2)
Negative regulation of NOTCH4 signalingNOTCH3 Activation and Transmission of Signal to the Nucleus
EXPRESSÃO TECIDUAL(Ubíquo)
Testículo
122.0 TPM
Linfócitos
98.8 TPM
Sangue
80.8 TPM
Baço
44.0 TPM
Fibroblastos
29.4 TPM
OUTRAS DOENÇAS (2)
giant cell glioblastomagliosarcoma
HGNC:11524UniProt:Q9Y6A5
FGFR3Fibroblast growth factor receptor 3Candidate gene tested inAltamente restrito
FUNÇÃO

Tyrosine-protein kinase that acts as a cell-surface receptor for fibroblast growth factors and plays an essential role in the regulation of cell proliferation, differentiation and apoptosis. Plays an essential role in the regulation of chondrocyte differentiation, proliferation and apoptosis, and is required for normal skeleton development. Regulates both osteogenesis and postnatal bone mineralization by osteoblasts. Promotes apoptosis in chondrocytes, but can also promote cancer cell proliferat

LOCALIZAÇÃO

Cell membraneCytoplasmic vesicleEndoplasmic reticulumSecreted

VIAS BIOLÓGICAS (2)
Signaling by FGFR3 in diseaset(4;14) translocations of FGFR3
MECANISMO DE DOENÇA

Achondroplasia

A frequent form of short-limb dwarfism. It is characterized by a long, narrow trunk, short extremities, particularly in the proximal (rhizomelic) segments, a large head with frontal bossing, hypoplasia of the midface and a trident configuration of the hands. ACH is an autosomal dominant disease.

EXPRESSÃO TECIDUAL(Ubíquo)
Skin Not Sun Exposed Suprapubic
364.6 TPM
Skin Sun Exposed Lower leg
356.5 TPM
Esôfago - Mucosa
199.7 TPM
Brain Caudate basal ganglia
148.4 TPM
Brain Nucleus accumbens basal ganglia
135.4 TPM
OUTRAS DOENÇAS (19)
nevus, epidermalsevere achondroplasia-developmental delay-acanthosis nigricans syndromelacrimoauriculodentodigital syndrome 2testicular germ cell tumor
HGNC:3690UniProt:P22607
MGMTMethylated-DNA--protein-cysteine methyltransferaseCandidate gene tested inTolerante
FUNÇÃO

Involved in the cellular defense against the biological effects of O6-methylguanine (O6-MeG) and O4-methylthymine (O4-MeT) in DNA. Repairs the methylated nucleobase in DNA by stoichiometrically transferring the methyl group to a cysteine residue in the enzyme. This is a suicide reaction: the enzyme is irreversibly inactivated

LOCALIZAÇÃO

Nucleus

VIAS BIOLÓGICAS (1)
MGMT-mediated DNA damage reversal
EXPRESSÃO TECIDUAL(Ubíquo)
Fígado
38.0 TPM
Testículo
25.7 TPM
Tecido adiposo
25.1 TPM
Mama
24.2 TPM
Bladder
23.6 TPM
OUTRAS DOENÇAS (3)
gliosarcomafamilial melanomagiant cell glioblastoma
HGNC:7059UniProt:P16455
TP53Cellular tumor antigen p53Candidate gene tested inAltamente restrito
FUNÇÃO

Multifunctional transcription factor that induces cell cycle arrest, DNA repair or apoptosis upon binding to its target DNA sequence (PubMed:11025664, PubMed:12524540, PubMed:12810724, PubMed:15186775, PubMed:15340061, PubMed:17317671, PubMed:17349958, PubMed:19556538, PubMed:20673990, PubMed:20959462, PubMed:22726440, PubMed:24051492, PubMed:24652652, PubMed:35618207, PubMed:36634798, PubMed:38653238, PubMed:9840937). Acts as a tumor suppressor in many tumor types; induces growth arrest or apop

LOCALIZAÇÃO

CytoplasmNucleusNucleus, PML bodyEndoplasmic reticulumMitochondrion matrixCytoplasm, cytoskeleton, microtubule organizing center, centrosome

VIAS BIOLÓGICAS (10)
TP53 Regulates Metabolic GenesRegulation of TP53 ExpressionRegulation of TP53 DegradationOncogene Induced SenescenceOxidative Stress Induced Senescence
EXPRESSÃO TECIDUAL(Ubíquo)
Linfócitos
73.0 TPM
Skin Sun Exposed Lower leg
37.0 TPM
Skin Not Sun Exposed Suprapubic
35.2 TPM
Fibroblastos
32.9 TPM
Ovário
32.4 TPM
OUTRAS DOENÇAS (29)
Li-Fraumeni syndromenasopharyngeal carcinoma, susceptibility to, 1hepatocellular carcinomafamilial pancreatic carcinoma
HGNC:11998UniProt:P04637
NFKBIANF-kappa-B inhibitor alphaCandidate gene tested inAltamente restrito
FUNÇÃO

Inhibits the activity of dimeric NF-kappa-B/REL complexes by trapping REL (RELA/p65 and NFKB1/p50) dimers in the cytoplasm by masking their nuclear localization signals (PubMed:1493333, PubMed:36651806, PubMed:7479976). On cellular stimulation by immune and pro-inflammatory responses, becomes phosphorylated promoting ubiquitination and degradation, enabling the dimeric RELA to translocate to the nucleus and activate transcription (PubMed:7479976, PubMed:7628694, PubMed:7796813, PubMed:7878466)

LOCALIZAÇÃO

CytoplasmNucleus

VIAS BIOLÓGICAS (10)
RIP-mediated NFkB activation via ZBP1TRAF6 mediated NF-kB activationTAK1-dependent IKK and NF-kappa-B activation NF-kB is activated and signals survivalCLEC7A (Dectin-1) signaling
MECANISMO DE DOENÇA

Ectodermal dysplasia and immunodeficiency 2

A form of ectoderma dysplasia, a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures. This form of ectodermal dysplasia is associated with decreased production of pro-inflammatory cytokines and certain interferons, rendering patients susceptible to infection. EDAID2 inheritance is autosomal dominant.

EXPRESSÃO TECIDUAL(Ubíquo)
Pulmão
497.5 TPM
Nervo tibial
450.8 TPM
Baço
352.8 TPM
Ovário
332.9 TPM
Skin Not Sun Exposed Suprapubic
320.1 TPM
OUTRAS DOENÇAS (5)
ectodermal dysplasia and immunodeficiency 2ectodermal dysplasia and immune deficiencygiant cell glioblastomanasopharyngeal carcinoma
HGNC:7797UniProt:P25963

Medicamentos e terapias

CARMUSTINEPhase 4

Mecanismo: Glutathione reductase inhibitor

BEVACIZUMABPhase 4

Mecanismo: Vascular endothelial growth factor A inhibitor

DEPATUXIZUMAB MAFODOTINPhase 3

Mecanismo: Epidermal growth factor receptor erbB1 binding agent

MARIZOMIBPhase 3

Mecanismo: 20S proteasome inhibitor

CILENGITIDEPhase 3

Mecanismo: Integrin alpha-V/beta-3 antagonist

EDOTECARINPhase 3

Mecanismo: DNA topoisomerase I inhibitor

HYDROXYUREAPhase 3

Mecanismo: Ribonucleoside-diphosphate reductase RR1 inhibitor

CEDIRANIBPhase 3

Mecanismo: Vascular endothelial growth factor receptor inhibitor

IMATINIBPhase 3

Mecanismo: Stem cell growth factor receptor inhibitor

IMATINIB MESYLATEPhase 3

Mecanismo: Tyrosine-protein kinase ABL inhibitor

Ver mais no OpenTargets

Variantes genéticas (ClinVar)

1,875 variantes patogênicas registradas no ClinVar.

🧬 NFKBIA: NM_020529.3(NFKBIA):c.106T>G (p.Ser36Ala) ()
🧬 NFKBIA: NM_020529.3(NFKBIA):c.469C>G (p.Leu157Val) ()
🧬 NFKBIA: GRCh37/hg19 14q12-21.2(chr14:30935698-44461013)x1 ()
🧬 NFKBIA: NM_020529.3(NFKBIA):c.273G>A (p.Met91Ile) ()
🧬 NFKBIA: NM_020529.3(NFKBIA):c.155T>C (p.Ile52Thr) ()
Ver todas no ClinVar

Classificação de variantes (ClinVar)

Distribuição de 6 variantes classificadas pelo ClinVar.

5
1
Patogênica (83.3%)
VUS (16.7%)
VARIANTES MAIS SIGNIFICATIVAS
POT1: NM_015450.3(POT1):c.910dup (p.Asp304fs) [Pathogenic/Likely pathogenic]
KRAS: NM_033360.4(KRAS):c.64C>A (p.Gln22Lys) [Pathogenic/Likely pathogenic]
FGFR1: NM_023110.3(FGFR1):c.1966A>G (p.Lys656Glu) [Pathogenic]
TP53: NM_000546.6(TP53):c.466C>T (p.Arg156Cys) [Conflicting classifications of pathogenicity]
KRAS: NM_004985.5(KRAS):c.35G>C (p.Gly12Ala) [Pathogenic/Likely pathogenic]

Vias biológicas (Reactome)

125 vias biológicas associadas aos genes desta condição.

Transcriptional activation of mitochondrial biogenesis Citric acid cycle (TCA cycle) Mitochondrial protein degradation Maturation of TCA enzymes and regulation of TCA cycle PI3K Cascade PIP3 activates AKT signaling Signaling by FGFR1 amplification mutants Signaling by activated point mutants of FGFR1 FGFR1b ligand binding and activation FGFR1c ligand binding and activation FGFR1c and Klotho ligand binding and activation Constitutive Signaling by Aberrant PI3K in Cancer NCAM signaling for neurite out-growth Signal transduction by L1 Phospholipase C-mediated cascade: FGFR1 Downstream signaling of activated FGFR1 SHC-mediated cascade:FGFR1 PI-3K cascade:FGFR1 FRS-mediated FGFR1 signaling Negative regulation of FGFR1 signaling Signaling by FGFR1 in disease RAF/MAP kinase cascade PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling Signaling by plasma membrane FGFR1 fusions Epithelial-Mesenchymal Transition (EMT) during gastrulation Formation of paraxial mesoderm alectinib sensitve ALK mutants ceritinib-resistant ALK mutants ceritinib-resistant ALK mutants don't bind ceritinib ALK mutants bind type I TKIs Abnormal conversion of 2-oxoglutarate to 2-hydroxyglutarate NADPH regeneration Neutrophil degranulation Peroxisomal protein import NFE2L2 regulating TCA cycle genes PPARA activates gene expression Transcriptional regulation of white adipocyte differentiation Nuclear Receptor transcription pathway SUMOylation of intracellular receptors Regulation of PTEN gene transcription MECP2 regulates transcription factors MLL4 and MLL3 complexes regulate expression of PPARG target genes in adipogenesis and hepatic steatosis Transcriptional regulation of brown and beige adipocyte differentiation by EBF2 Signaling by ERBB2 Constitutive Signaling by Ligand-Responsive EGFR Cancer Variants Signaling by ERBB4 SHC1 events in ERBB2 signaling PLCG1 events in ERBB2 signaling Signaling by EGFR GRB2 events in EGFR signaling GAB1 signalosome SHC1 events in EGFR signaling EGFR downregulation GRB2 events in ERBB2 signaling PI3K events in ERBB2 signaling EGFR interacts with phospholipase C-gamma EGFR Transactivation by Gastrin Constitutive Signaling by EGFRvIII Inhibition of Signaling by Overexpressed EGFR ERBB2 Regulates Cell Motility ERBB2 Activates PTK6 Signaling Cargo recognition for clathrin-mediated endocytosis Clathrin-mediated endocytosis PTK6 promotes HIF1A stabilization Downregulation of ERBB2 signaling TFAP2 (AP-2) family regulates transcription of growth factors and their receptors Extra-nuclear estrogen signaling NOTCH3 Activation and Transmission of Signal to the Nucleus Negative regulation of NOTCH4 signaling Signaling by activated point mutants of FGFR3 FGFR3b ligand binding and activation FGFR3c ligand binding and activation t(4;14) translocations of FGFR3 Phospholipase C-mediated cascade; FGFR3 SHC-mediated cascade:FGFR3 FRS-mediated FGFR3 signaling PI-3K cascade:FGFR3 Negative regulation of FGFR3 signaling Signaling by FGFR3 in disease Signaling by FGFR3 fusions in cancer MGMT-mediated DNA damage reversal Activation of NOXA and translocation to mitochondria Activation of PUMA and translocation to mitochondria Pre-NOTCH Transcription and Translation Oxidative Stress Induced Senescence Formation of Senescence-Associated Heterochromatin Foci (SAHF) Oncogene Induced Senescence DNA Damage/Telomere Stress Induced Senescence SUMOylation of transcription factors Autodegradation of the E3 ubiquitin ligase COP1 Association of TriC/CCT with target proteins during biosynthesis Pyroptosis TP53 Regulates Metabolic Genes Ub-specific processing proteases Ovarian tumor domain proteases Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks Interleukin-4 and Interleukin-13 signaling TP53 Regulates Transcription of DNA Repair Genes TP53 Regulates Transcription of Genes Involved in Cytochrome C Release TP53 regulates transcription of several additional cell death genes whose specific roles in p53-dependent apoptosis remain uncertain TP53 Regulates Transcription of Caspase Activators and Caspases TP53 Regulates Transcription of Death Receptors and Ligands TP53 Regulates Transcription of Genes Involved in G2 Cell Cycle Arrest TP53 regulates transcription of additional cell cycle genes whose exact role in the p53 pathway remain uncertain TP53 Regulates Transcription of Genes Involved in G1 Cell Cycle Arrest Regulation of TP53 Expression Regulation of TP53 Activity through Phosphorylation Regulation of TP53 Degradation Regulation of TP53 Activity through Acetylation Regulation of TP53 Activity through Association with Co-factors Regulation of TP53 Activity through Methylation Activation of NF-kappaB in B cells RIP-mediated NFkB activation via ZBP1 Downstream TCR signaling NF-kB is activated and signals survival FCERI mediated NF-kB activation TAK1-dependent IKK and NF-kappa-B activation SUMOylation of immune response proteins IkBA variant leads to EDA-ID CLEC7A (Dectin-1) signaling Interleukin-1 signaling TRAF6 mediated NF-kB activation SARS-CoV-1 activates/modulates innate immune responses Turbulent (oscillatory, disturbed) flow shear stress activates signaling by PIEZO1 and integrins in endothelial cells Dengue virus modulates apoptosis

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

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Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

Pipeline de tratamentos
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Publicações mais relevantes

Timeline de publicações
159 papers (10 anos)
#1

TERT Promoter Methylation in Glioblastoma and its Paradoxical Association with Upregulated Gene Expression.

Neurology India2026 Mar 01

To evaluate telomerase reverse transcriptase (TERT) promoter hyper-methylation as a potential causative epigenetic alteration of elevated mRNA expression in glioblastoma (GBM). The hyper-methylation and mRNA expression were evaluated by methylation-sensitive high-resolution melting analysis (MS-HRM) and qRT-PCR, respectively. Bioinformatic analysis of The Cancer Genome Atlas (TCGA) database was also performed to obtain similar data. The mechanistic link between the hyper-methylation and mRNA expression was analyzed in vitro in U87MG and LN228 GBM cell lines. A cross-sectional study was conducted. A total of 50 cases of adult hemispheric GBMs (IDH wild type), and five cases of high-grade astrocytoma (IDH mutant, grade 4) (HGA) were included for the study. Eight normal brains (NB) from the autopsy of nonneurological diseases were used as control. The TERT promoter methylation was significantly higher in GBM than NB (Median -19.5% vs 6.8%; P value 0.003). Considering 10% methylation as cutoff, hyper-methylation was detected in 65% of GBM, 60% of HGA, and only in a single case of normal brain. There was a significant positive correlation between the methylation level and mRNA expression (correlation coefficient 0.40; P value 0.002) in the study cohort. In the TCGA database, the methylation status of the probes covering the selected promoter region showed a similar association with gene expression. In vitro treatment of the GBM cell lines with demethylase agent Azacitidine led to a significant reduction in the mRNA level and cell proliferation. Hyper-methylation or mRNA expression did not correlate with overall survival. The present study is the first to assess the TERT promoter methylation status in GBM in an Indian cohort. TERT hyper-methylation is crucially implicated in the pathobiology of GBM by enhancing the gene expression. This epigenetic alteration may be an important therapeutic target, especially with the use of a specific demethylating agent.

#2

High-Grade Astrocytoma With Piloid Features: An Aggressive Clinicogenomic Entity Distinct From Pilocytic Astrocytoma.

Journal of Korean medical science2026 Mar 09

High-grade astrocytoma with piloid features (HGAP) has recently emerged as an aggressive glioma entity with distinct molecular alterations, yet its clinicogenomic distinction from pilocytic astrocytoma (PA) remains to be fully elucidated. This study aims to clarify the clinical, pathological, and genomic differences between pediatric PA, adult PA, and HGAP, and to provide evidence supporting the recognition of HGAP as a new, aggressive entity. We retrospectively analyzed 100 genetically and histopathologically confirmed PA cases (87 pediatric, 13 adult) and 25 HGAP cases (all > 19 years old) diagnosed at Seoul National University Hospital between 2015 and 2024. Next-generation sequencing using a brain tumor-specific gene panel and immunohistochemistry evaluation. Pediatric PAs (median age 7 years) were predominantly cerebellar (61%) and showed classic biphasic histology (72%) with frequent KIAA1549-BRAF fusion (72%) and BRAF V600E mutations (13%) and rarely KRAS mutation (2.3%). Adult PAs (median age 35 years), when HGAP was excluded, were less often cerebellar (53.8%) and rarely KRAS mutation (2.3%), more frequently supratentorial (23%) or spinal (15%) than pediatric PAs, and showed a higher incidence of KRAS mutations (23.1%), and more patternless or diffuse oligoastrocytic histology (31%), but did not differ in recurrence rate or prognosis compared to pediatric PA. In contrast, HGAPs predominantly affected adults (median age 53 years, ranges: 19-87 years), frequently involved cerebellum (40%), and exhibited high-grade histopathological features. Molecular profiling revealed HGAPs harbored frequent CDKN2A/B deletions (76%) and mutations of NF1 (64%), ATRX (52%), PTPN11 (28%), FGFR1/FGFR4 (20%), TERTp (16%), and TP53 (16%). Patients with HGAP had significantly shorter progression-free and overall survival compared to both pediatric and adult PA. HGAP represents a clinically aggressive and molecularly distinct high-grade glioma, clearly separable from pediatric and adult PA. Its poor prognosis and unique genetic drivers justify its recognition as a new entity. Accurate molecular profiling is essential for diagnosis and management of these tumors, and the poor survival outcomes observed in HGAP highlight the need for further larger cohort studies to identify optimal therapeutic strategies.

#3

Laser interstitial thermal therapy and adjuvant pembrolizumab in recurrent high-grade astrocytoma: a Phase 1/randomized Phase 2b trial.

Nature communications2026 Feb 26

Immune checkpoint inhibitors (ICIs) show minimal efficacy in recurrent high-grade astrocytoma (rHGA). Laser interstitial thermal therapy (LITT), a minimally invasive cytoreductive approach, may prime rHGA for ICI response. A phase 1/randomized phase 2b trial (ClinicalTrials.gov: NCT02311582 ) was designed to test pembrolizumab in combination with LITT in patients with rHGA. Nine patients were enrolled in the phase I dose-escalation lead-in study. No dose-limiting toxicities were observed and 200 mg of pembrolizumab every three weeks was determined as the recommended phase 2 dose. The phase 2b study was initially designed to randomize (up to 45) patients 1:1 to either LITT followed by pembrolizumab (LITT + PEM) or non-LITT surgery followed by pembrolizumab (NLS + PEM). Phase 2's primary endpoint was progression-free survival (PFS); secondary endpoints included overall survival (OS), safety, and immune signature. After 21 patients, based on an independent Data and Safety Monitoring Committee request of unscheduled interim review of accumulating efficacy data, randomization stopped as benefit from NLS + PEM appeared limited, and the subsequent 24 patients received LITT + PEM. The pre-specified study endpoints were achieved. Among 39 per-protocol patients, LITT + PEM (n = 33) improved median OS (11.8 versus 5.2 months) and 18-month survival (42% versus 0%) compared to NLS + PEM (n = 6) (hazard ratio [HR] 0.17; 95% confidence interval [CI], 0.06-0.49; P = 0.0002). Median PFS was longer in LITT + PEM (4.5 versus 1.6 months; HR 0.21; 95% CI, 0.08-0.56; P = 0.0006). In an intent-to-treat sensitivity analysis (n = 21), OS (HR 0.29; 95% CI, 0.10-0.88) and PFS (HR 0.30; 95% CI, 0.10-0.87) again favored LITT + PEM (n = 13). Treatment was well tolerated. LITT activated non-classical monocytes, and pembrolizumab unleashed CD8⁺ T cell proliferation, clonal expansion, and coordinated memory T-cell responses. Overall, LITT + PEM is safe and may overcome rHGA immunosuppression to generate antitumor immunity.

#4

Management of glioblastoma intramedullary spinal cord metastasis with advanced intraoperative techniques: a case series and systematic review.

Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia2026 May

Glioblastoma intramedullary spinal cord metastasis (GISCM) is a rare sequela of high-grade astrocytoma and glioblastoma multiforme (GBM). Discrete intramedullary spinal cord metastases are less common than spinal leptomeningeal spread and may follow a more indolent course. Once identified as GISCM, palliative maximal safe resection of the tumor may be considered to alleviate neurological symptoms. Reports describing the surgical management of these rare lesions, including the use of emerging technologies that may aid in maximal safe resection, are sparse. A further understanding is also required regarding the course of disease and factors contributing to mortality in GISCM. We reviewed the intraoperative management and clinical course of three patients treated for GISCM at our institution between 2015 and 2024. We additionally conducted a PRISMA-guided systematic literature review of PubMed Central, MEDLINE, and Bookshelf databases through May 26th, 2025, including original patient reports of GISCM from cranial astrocytoma or GBM. The disease course, management strategies, and causes of mortality in previously reported cases were analyzed. Our institutional cohort had a mean time to spinal metastasis of 26.2 months from diagnosis of cranial disease (range 17.5-40.5 months), with a mean survival of 9.2 months following maximal safe resection of extramedullary components (range 7-12 months). In two cases, intraoperative Stimulated Raman Histology (SRH) was employed to facilitate the rapid identification of metastatic GBM, thereby influencing surgical strategy. In one case, 5-aminolevulinic acid (5-ALA) was used to differentiate between tumor and spinal cord parenchyma, facilitating maximal safe debulking without neurological injury. Literature review identified 38 prior reported cases of GISCM, with a median time to spinal diagnosis of 11.0 months and a median survival of 3.5 months thereafter. The cause of death in the review cohort often involved multiple factors, and when analyzed for contributing factors to death, 38.7% involved cranial progression, 38.7% involved progression of spinal disease, and 29.0% involved medical complications. Gait ataxia at presentation was associated with shorter survival in review patients, potentially reflecting advanced disease with extramedullary cord compression. GISCM represents an entity distinct from leptomeningeal disease and may be managed in conjunction with recurrent cranial disease. Surgical debulking is a technically feasible strategy that can be safely facilitated using tools employed in the management of intracranial GBM, facilitating maximal safe resection without compromising survival.

#5

Pediatric High-Grade Astrocytoma With Piloid Features: A Comprehensive Literature Review.

Pediatric blood & cancer2026 Mar

High-grade astrocytoma with piloid features (HGAP) is a recently defined central nervous system (CNS) tumor, first introduced into the 2021 World Health Organization (WHO) classification. While predominantly observed in adults, pediatric cases remain rare and poorly characterized. This study aimed to review the epidemiology, clinical features, and molecular profile of pediatric HGAP. A comprehensive review of studies published from 2018 to 2025 was performed to identify methylation-confirmed HGAP cases in patients aged 18 years or younger. Data extracted from studies included subject demographics, tumor location, histological features, molecular alterations, and the implemented treatment sequence. The search identified 17 pediatric cases meeting the inclusion criteria. The median age at diagnosis was 15 years (range: 4-18 years), and a male predilection of approximately twofold was observed. Tumors most commonly arose in the posterior fossa (56.3%). Recurrent molecular alterations included CDKN2A/B loss (75%), FGFR1 mutations or fusions (55.6%), and ATRX loss (45.5%). This review did not identify definitive clinical or histomolecular differences between pediatric and adult HGAP, underscoring the need for further comparative studies. Pediatric HGAP may represent an underrecognized diagnostic entity within the glioma spectrum, emphasizing the critical role of methylation profiling for accurate diagnosis and classification. Retrospective reclassification of histologically and molecularly ambiguous gliomas is warranted and may reveal additional cases. Larger pediatric cohorts are urgently needed to inform clinical management and refine prognostic stratification.

Publicações recentes

Ver todas no PubMed

📚 EuropePMC139 artigos no totalmostrando 158

2026

TERT Promoter Methylation in Glioblastoma and its Paradoxical Association with Upregulated Gene Expression.

Neurology India
2026

High-Grade Astrocytoma With Piloid Features: An Aggressive Clinicogenomic Entity Distinct From Pilocytic Astrocytoma.

Journal of Korean medical science
2026

Laser interstitial thermal therapy and adjuvant pembrolizumab in recurrent high-grade astrocytoma: a Phase 1/randomized Phase 2b trial.

Nature communications
2026

Management of glioblastoma intramedullary spinal cord metastasis with advanced intraoperative techniques: a case series and systematic review.

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

Heterogeneous DNA methylation and gene expression patterns underly metabolic plasticity in canine astrocytoma-derived stem-like cells.

Frontiers in oncology
2026

Two-Stage Surgical Management of Intramedullary Holocord Astrocytoma in an Adult: A Case Report and Literature Review.

Current oncology (Toronto, Ont.)
2026

Pediatric High-Grade Astrocytoma With Piloid Features: A Comprehensive Literature Review.

Pediatric blood & cancer
2025

Single-cell and spatial transcriptome sequencing analysis reveals characteristics of a unique subpopulation in high-grade IDH-mutant astrocytoma.

Cellular oncology (Dordrecht, Netherlands)
2026

Neoadjuvant PD1 blockade with laser interstitial thermal therapy for recurrent high-grade glioma.

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

[Molecular Genetic Analysis of Childhood Brain Tumors].

No shinkei geka. Neurological surgery
2025

Case Report: FGFR1 mutation and massive chromosome loss drive malignant transformation of low-grade gliomas.

Frontiers in oncology
2025

Imaging features of high-grade astrocytoma with piloid features: A single center case series.

The neuroradiology journal
2025

Radiosurgery for recurrent high-grade gliomas: a critical analysis based on a retrospective single-center series.

Neurosurgical review
2025

Adult pilocytic astrocytomas: challenging the benign paradigm with surgical risks, recurrence dynamics, and molecular insights.

Neurosurgical review
2025

High-grade astrocytoma with piloid features resected with an exoscopic supracerebellar infratentorial approach: illustrative case.

Journal of neurosurgery. Case lessons
2025

DNA methylation analysis reveals an epigenetic signature distinctive of high-grade oligodendroglioma.

Acta neuropathologica
2025

ATRX loss in adult gliomas lacking H3 alterations or IDH mutations, an exceptional situation for exceptional diagnoses: the experience of Sainte-Anne hospital.

Acta neuropathologica communications
2025

A Novel Germline MUTYH Mutation (p.W156∗) in High-Grade Astrocytoma, IDH Mutant.

Human mutation
2025

A pineal mass in a 39-year-old woman.

Brain pathology (Zurich, Switzerland)
2025

Reclassification of pineal tumor as high-grade astrocytoma with piloid features through methylation profiling: illustrative case.

Journal of neurosurgery. Case lessons
2025

High-grade astrocytoma with piloid features: a single-institution case series and literature review.

Acta neuropathologica communications
2025

High-grade astrocytoma with piloid features: case report and systematic review.

Zhurnal voprosy neirokhirurgii imeni N. N. Burdenko
2025

High-grade astrocytoma with piloid features: A case report and review of literature.

Surgical neurology international
2025

High-grade astrocytoma in a sheep: clinical, pathology, and genetic investigations.

Journal of veterinary diagnostic investigation : official publication of the American Association of Veterinary Laboratory Diagnosticians, Inc
2025

Canine cystic astrocytomas: 7 cases.

Journal of veterinary diagnostic investigation : official publication of the American Association of Veterinary Laboratory Diagnosticians, Inc
2025

High-Grade Astrocytoma With Piloid Features: Case Series and Review of a Recently Described Brain Tumor Entity.

Archives of pathology & laboratory medicine
2024

High-grade astrocytoma with piloid features in the conus medullaris: a rare presentation of a new World Health Organization diagnosis. Illustrative case.

Journal of neurosurgery. Case lessons
2024

Freiburg Neuropathology Case Conference : Posterior fossa tumour 15 years after microsurgical resection of a cerebellar pilocytic astrocytoma.

Clinical neuroradiology
2024

Novel paediatric case of a spinal high-grade astrocytoma with piloid features in a patient with Noonan Syndrome.

NPJ precision oncology
2024

High-grade astrocytoma with piloid features: MRI findings associated with a novel entity.

Radiology case reports
2024

Recurrent symptomatic intracranial hemorrhage in high-grade astrocytoma with piloid features: illustrative case.

Journal of neurosurgery. Case lessons
2024

A High-Grade Glioma, Not Elsewhere Classified in an Older Adult with Discordant Genetic and Epigenetic Analyses.

Biomedicines
2024

The Role of Radiotherapy, Chemotherapy, and Targeted Therapies in Adult Intramedullary Spinal Cord Tumors.

Cancers
2024

Fractional tumor burden maps increase the confidence of reading brain MR perfusion.

European journal of radiology
2024

Astrocytoma with high-grade features and MYBL1-MMP16 fusion.

Surgical neurology international
2024

Nodular Melanoma in a 53-year-old Male with Glioblastoma Multiforme: A Rare Case Report.

Acta medica Philippina
2024

Obstructive Hydrocephalus Due to Aggressive Posterior Fossa Tumor Exhibiting Histological Characteristics of Pilocytic Astrocytoma in Two Adult Neurofibromatosis Type 1 (NF1) Cases.

Cureus
2024

High-Grade Astrocytoma with Piloid Features: A Dual Institutional Review of Imaging Findings of a Novel Entity.

AJNR. American journal of neuroradiology
2024

Freiburg Neuropathology Case Conference: : 68-Year-Old Patient with Slurred Speech, Double Vision, and Increasing Gait Disturbance.

Clinical neuroradiology
2024

A fusion model integrating magnetic resonance imaging radiomics and deep learning features for predicting alpha-thalassemia X-linked intellectual disability mutation status in isocitrate dehydrogenase-mutant high-grade astrocytoma: a multicenter study.

Quantitative imaging in medicine and surgery
2024

A Teenage Boy With a Radiation-Induced High-Grade Astrocytoma.

Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society
2023

A new subtype of diffuse midline glioma, H3 K27 and BRAF/FGFR1 co-altered: a clinico-radiological and histomolecular characterisation.

Acta neuropathologica
2023

Diagnostic Insights into Pediatric Pleomorphic Xanthoastrocytoma through DNA Methylation Class and Pathological Diagnosis Analysis.

Diagnostics (Basel, Switzerland)
2023

Systemic Metastasis of Pediatric Diffuse High-grade Astrocytoma: A Case Report.

NMC case report journal
2023

[Circumscribed Astrocytic Gliomas].

No shinkei geka. Neurological surgery
2024

Proton MR spectroscopy shows improved performance to segregate high-grade astrocytoma subgroups when defined with the new 2021 World Health Organization classification of central nervous system tumors.

European radiology
2023

Infant-type hemispheric glioma occurring at the cervicomedullary region in a 5-month-old infant: A case report with a special emphasis on molecular classification.

Surgical neurology international
2023

Molecular profiling of pre- and post-treatment pediatric high-grade astrocytomas reveals acquired increased tumor mutation burden in a subset of recurrences.

Acta neuropathologica communications
2023

Quality by design engineered, enhanced anticancer activity of temozolomide and resveratrol coloaded NLC and brain targeting via lactoferrin conjugation in treatment of glioblastoma.

European journal of pharmaceutics and biopharmaceutics : official journal of Arbeitsgemeinschaft fur Pharmazeutische Verfahrenstechnik e.V
2024

MET fusions and splicing variants is a strong adverse prognostic factor in astrocytoma, isocitrate dehydrogenase mutant.

Brain pathology (Zurich, Switzerland)
2023

Medullary brainstem gliomas in an adult: A rare case report and challenging tumor.

Surgical neurology international
2023

Establishment and characterization of two novel patient-derived lines from canine high-grade glioma.

Veterinary and comparative oncology
2023

Risk factor analysis and nomogram establishment and verification of brain astrocytoma patients based on SEER database.

Scientific reports
2023

Phase II Investigation of TVB-2640 (Denifanstat) with Bevacizumab in Patients with First Relapse High-Grade Astrocytoma.

Clinical cancer research : an official journal of the American Association for Cancer Research
2023

A clinical case report of Balamuthia granulomatous amoebic encephalitis in a non-immunocompromised patient and literature review.

BMC infectious diseases
2023

The Use of Caffeine Citrate for Respiratory Stimulation in Acquired Central Hypoventilation Syndrome: A Case Series.

Journal of critical care medicine (Universitatea de Medicina si Farmacie din Targu-Mures)
2023

An unexpected diagnosis of malignant supratentorial intraparenchymal cystic meningioma mimicking high-grade glioma: case report and literature review.

Journal of surgical case reports
2023

Clinical, histological, and molecular features of gliomas in adults with neurofibromatosis type 1.

Neuro-oncology
2023

A rare, giant, anaplastic oligodendroglioma.

Radiology case reports
2023

Multi-ancestry genome-wide association study of 4069 children with glioma identifies 9p21.3 risk locus.

Neuro-oncology
2023

Transdural Skull Base Infiltration by Glioblastoma: Case Report and Review of the Literature.

Case reports in otolaryngology
2023

Integrative analysis of small non-coding RNAs predicts a piRNA/miRNA-CCND1/BRAF/HRH1/ATXN3 regulatory circuit that drives oncogenesis in glioblastoma.

Molecular omics
2023

Recurrent high-grade astrocytoma with somatic mosaicism of isocitrate dehydrogenase gene mutation.

Pathology international
2023

Leptomeningeal metastases and dural spread in adult high-grade astrocytomas.

Journal of neuropathology and experimental neurology
2022

Cerebellar High-Grade Glioma: A Translationally Oriented Review of the Literature.

Cancers
2022

Immunohistochemical Expression of PD-L1 and IDH1 with Detection of MGMT Promoter Methylation in Astrocytoma.

Asian Pacific journal of cancer prevention : APJCP
2023

Cell signaling activation and extracellular matrix remodeling underpin glioma tumor microenvironment heterogeneity and organization.

Cellular oncology (Dordrecht, Netherlands)
2022

A High Grade Astrocytoma with Pilocytic Morphology in a 5-Month-Old American Bulldog.

Veterinary sciences
2023

Expanded analysis of high-grade astrocytoma with piloid features identifies an epigenetically and clinically distinct subtype associated with neurofibromatosis type 1.

Acta neuropathologica
2022

Integrated genomic analysis reveals actionable targets in pediatric spinal cord low-grade gliomas.

Acta neuropathologica communications
2022

The utility of DNA methylation analysis in elderly patients with pilocytic astrocytoma morphology.

Journal of neuro-oncology
2022

Multiplatform molecular analyses refine classification of gliomas arising in patients with neurofibromatosis type 1.

Acta neuropathologica
2022

Patients' Survival with Astrocytoma After Treatment: a Systematic Review and Meta-analysis of Clinical Trial Studies.

Indian journal of surgical oncology
2023

Multi-institutional study of the frequency, genomic landscape, and outcome of IDH-mutant glioma in pediatrics.

Neuro-oncology
2022

Circumscribed astrocytic gliomas: Contribution of molecular analyses to histopathology diagnosis in the WHO CNS5 classification.

Indian journal of pathology & microbiology
2022

A Case Report of Pediatric Germinoma With SARS-CoV-2: Lessons Learned From an Academic Tertiary Referral Hospital in Asian COVID Epicentrum.

International journal of surgery case reports
2022

European Mistletoe (Viscum album) Extract Is Cytotoxic to Canine High-Grade Astrocytoma Cells In Vitro and Has Additive Effects with Mebendazole.

Veterinary sciences
2022

Circular RNA Sequencing Reveals Serum Exosome Circular RNA Panel for High-Grade Astrocytoma Diagnosis.

Clinical chemistry
2021

High-grade Astrocytoma Responsible for Optic Nerve Infiltration With Vitreous Seeding.

JAMA ophthalmology
2021

Incidence and survival for childhood central nervous system tumours in Australia, 1983-2016.

Journal of neuro-oncology
2022

Clinical-pathological study of 28 glial and mixed neuronal-glial tumors diagnosed within the first year of life.

Clinical neuropathology
2022

Clinicoradiological characteristics of primary spinal cord H3 K27M-mutant diffuse midline glioma.

Journal of neurosurgery. Spine
2021

Molecular diagnostics helps to identify distinct subgroups of spinal astrocytomas.

Acta neuropathologica communications
2021

Spinal cord glioblastoma multiforme in a patient with Noonan syndrome: A clinical report.

Clinical neurology and neurosurgery
2021

Overcoming the Challenges in the Treatment of Glioblastoma via Nanocarrier- based Drug Delivery Approach.

Current pharmaceutical design
2021

LPA1 Receptor Promotes Progesterone Receptor Phosphorylation through PKCα in Human Glioblastoma Cells.

Cells
2021

Diffusion MRI in Evaluation of Pediatric Posterior Fossa Tumors.

Asian Pacific journal of cancer prevention : APJCP
2021

High-grade astrocytoma with piloid features (HGAP): the Charité experience with a new central nervous system tumor entity.

Journal of neuro-oncology
2020

An immunohistochemical study of HER2 expression in primary brain tumors.

BioMedicine
2021

Phase I Study of Zotiraciclib in Combination with Temozolomide for Patients with Recurrent High-grade Astrocytomas.

Clinical cancer research : an official journal of the American Association for Cancer Research
2021

Molecular landscape of IDH-mutant primary astrocytoma Grade IV/glioblastomas.

Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc
2021

Canine Gliomatosis Cerebri: Morphologic and Immunohistochemical Characterization Is Supportive of Glial Histogenesis.

Veterinary pathology
2020

[Visual fluorescence combined with laser spectroscopy in surgery for intramedullary spinal cord tumors].

Zhurnal voprosy neirokhirurgii imeni N. N. Burdenko
2020

<Editors' Choice> Impact of maintenance of postoperative performance status on survival in elderly patients over 70 with high-grade astrocytoma.

Nagoya journal of medical science
2020

Label-free multiphoton imaging allows brain tumor recognition based on texture analysis-a study of 382 tumor patients.

Neuro-oncology advances
2020

Nuclear Respiratory Factor 1 (NRF1) Transcriptional Activity-Driven Gene Signature Association with Severity of Astrocytoma and Poor Prognosis of Glioblastoma.

Molecular neurobiology
2020

Development of transient radioresistance during fractionated irradiation in vitro.

Radiotherapy and oncology : journal of the European Society for Therapeutic Radiology and Oncology
2020

Use of High-Dose Chemotherapy in Front-Line Therapy of Infants Aged Less Than 12 Months Treated for Aggressive Brain Tumors.

Frontiers in pediatrics
2020

Textiloma Mimicking a Recurrent High-Grade Astrocytoma: A Case Report.

Journal of neurological surgery reports
2019

Nocardia farcinica meningitis in a patient with high-grade astrocytoma.

Journal of infection in developing countries
2020

RBL1 (p107) functions as tumor suppressor in glioblastoma and small-cell pancreatic neuroendocrine carcinoma in Xenopus tropicalis.

Oncogene
2020

Transcription factors NFIA and NFIB induce cellular differentiation in high-grade astrocytoma.

Journal of neuro-oncology
2019

Significance of Amphiregulin (AREG) for the Outcome of Low and High Grade Astrocytoma Patients.

Journal of Cancer
2019

Usefulness of [11C] Methionine PET in the Differentiation of Tumefactive Multiple Sclerosis from High Grade Astrocytoma.

Neurologia medico-chirurgica
2019

Clinicopathological characteristics of circumscribed high-grade astrocytomas with an unusual combination of BRAF V600E, ATRX, and CDKN2A/B alternations.

Brain tumor pathology
2020

Proliferation-dominant high-grade astrocytoma: survival benefit associated with extensive resection of FLAIR abnormality region.

Journal of neurosurgery
2019

Regorafenib in patients with recurrent high-grade astrocytoma.

Journal of cancer research and clinical oncology
2019

Reliability of Imaging-Based Diagnosis of Lateral Ventricular Masses in Children.

World neurosurgery
2019

Trajectories of psychosocial and cognitive functioning in pediatric patients with brain tumors treated with radiation therapy.

Neuro-oncology
2019

Supratentorial high-grade astrocytoma with leptomeningeal spread to the fourth ventricle: a lethal dissemination with dismal prognosis.

Journal of neuro-oncology
2018

A Rare Case of Metastases from a High-grade Astrocytoma to the Pleura, Bones, and Liver within Six Months of Diagnosis.

Cureus
2018

Durable Response to Nivolumab in a Pediatric Patient with Refractory Glioblastoma and Constitutional Biallelic Mismatch Repair Deficiency.

The oncologist
2018

Nonmeasurable Speckled Contrast-Enhancing Lesions Appearing During Course of Disease Are Associated With IDH Mutation in High-Grade Astrocytoma Patients.

International journal of radiation oncology, biology, physics
2018

Differential Diagnosis between Low-Grade and High-Grade Astrocytoma Using System A Amino Acid Transport PET Imaging with C-11-MeAIB: A Comparison Study with C-11-Methionine PET Imaging.

Contrast media & molecular imaging
2018

MR Imaging Features of Anaplastic Pleomorphic Xanthoastrocytoma Mimicking High-Grade Astrocytoma.

AJNR. American journal of neuroradiology
2018

Gene expression microarray analysis reveals prognostic markers of survival in high grade astrocytomas.

Neurological research
2018

Evaluation of high-grade astrocytoma recurrence patterns after radiotherapy in the era of temozolomide: A single institution experience.

Reports of practical oncology and radiotherapy : journal of Greatpoland Cancer Center in Poznan and Polish Society of Radiation Oncology
2018

Cerebellar high-grade astrocytoma with IDH mutations in the elderly: A report of two cases.

Neuropathology : official journal of the Japanese Society of Neuropathology
2018

Vessel Morphologies of the Brain in Cytological Squash Preparations Are Useful for Intraoperative Diagnosis of High-Grade Astrocytomas.

Acta cytologica
2018

Glioblastoma Multiforme in a Patient with Multiple Myeloma: A Case Report and Literature Review.

The Permanente journal
2018

Diagnostic Performance of Arterial Spin Labeling for Grading Nonenhancing Astrocytic Tumors.

Magnetic resonance in medical sciences : MRMS : an official journal of Japan Society of Magnetic Resonance in Medicine
2017

IDH1 R132H Mutation Is Accompanied with Malignant Progression of Paired Primary-Recurrent Astrocytic Tumours.

Journal of Cancer
2017

Long-term daily temozolomide with dose-dependent efficacy in MGMT promotor methylation negative recurrent high-grade astrocytoma.

Cancer chemotherapy and pharmacology
2017

Serial changes in lymphocyte subsets in patients with newly diagnosed high grade astrocytomas treated with standard radiation and temozolomide.

Journal of neuro-oncology
2017

Gene Expression Profiling of Chemokines and Their Receptors in Low and High Grade Astrocytoma.

Asian Pacific journal of cancer prevention : APJCP
2017

[Clinical effects of microsurgery in spinal cord anaplastic astrocytoma].

Zhonghua wai ke za zhi [Chinese journal of surgery]
2017

A pediatric trial of radiation/cetuximab followed by irinotecan/cetuximab in newly diagnosed diffuse pontine gliomas and high-grade astrocytomas: A Pediatric Oncology Experimental Therapeutics Investigators' Consortium study.

Pediatric blood & cancer
2017

Epigenetic Regulation of Telomere Maintenance for Therapeutic Interventions in Gliomas.

Genes
2017

High ATP2A2 expression correlates with better prognosis of diffuse astrocytic tumor patients.

Oncology reports
2017

A case of high-grade astrocytoma with BRAF and ATRX mutations following a long-standing course over two decades.

Neuropathology : official journal of the Japanese Society of Neuropathology
2017

Middle Temporal Gyrus Versus Inferior Temporal Gyrus Transcortical Approaches to High-Grade Astrocytomas in the Mediobasal Temporal Lobe: A Comparison of Outcomes, Functional Restoration, and Surgical Considerations.

Acta neurochirurgica. Supplement
2017

Distant spread of a supratentorial glioblastoma to the spinal cord.

Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia
2017

Post-treatment changes of tumour perfusion parameters can help to predict survival in patients with high-grade astrocytoma.

European radiology
2018

Region-Specific Dok2 Overexpression Associates with Poor Prognosis in Human Astrocytoma.

Molecular neurobiology
2016

Simultaneous 11C-Methionine Positron Emission Tomography/Magnetic Resonance Imaging of Suspected Primary Brain Tumors.

PloS one
2017

Quantitative Proteomics Reveals Fundamental Regulatory Differences in Oncogenic HRAS and Isocitrate Dehydrogenase (IDH1) Driven Astrocytoma.

Molecular & cellular proteomics : MCP
2016

Treatment Outcomes and Prognostic Factors in Adult Astrocytoma: In North East of Iran.

Iranian journal of cancer prevention
2016

Concurrent MEK targeted therapy prevents MAPK pathway reactivation during BRAFV600E targeted inhibition in a novel syngeneic murine glioma model.

Oncotarget
2016

Relationship Between Cytogenetic Complexity and Peritumoral Edema in High-Grade Astrocytoma.

Annals of laboratory medicine
2016

Successful Management of Intraoperative Acute Bilateral Pulmonary Embolism in a High Grade Astrocytoma Patient.

The American journal of case reports
2016

Is Upregulation of Aquaporin 4-M1 Isoform Responsible for the Loss of Typical Orthogonal Arrays of Particles in Astrocytomas?

International journal of molecular sciences
2016

Human herpesvirus multiplex ddPCR detection in brain tissue from low- and high-grade astrocytoma cases and controls.

Infectious agents and cancer
2016

Identification of a novel inactivating mutation in Isocitrate Dehydrogenase 1 (IDH1-R314C) in a high grade astrocytoma.

Scientific reports
2016

A comparison study of (11)C-methionine and (18)F-fluorodeoxyglucose positron emission tomography-computed tomography scans in evaluation of patients with recurrent brain tumors.

Indian journal of nuclear medicine : IJNM : the official journal of the Society of Nuclear Medicine, India
2016

A retrospective observational study on the treatment outcomes of 26 patients with spinal cord astrocytoma including two cases of malignant transformation.

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
2016

Comparison of cancer survival trends in the United States of adolescents and young adults with those in children and older adults.

Cancer
2016

High-grade glioma in children and adolescents: a single-center experience.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
2015

Nitroproteins in Human Astrocytomas Discovered by Gel Electrophoresis and Tandem Mass Spectrometry.

Journal of the American Society for Mass Spectrometry
2015

Poly-ADP-Ribose Polymerase as a Therapeutic Target in Pediatric Diffuse Intrinsic Pontine Glioma and Pediatric High-Grade Astrocytoma.

Molecular cancer therapeutics
2015

MicroRNA-542-3p Suppresses Tumor Cell Invasion via Targeting AKT Pathway in Human Astrocytoma.

The Journal of biological chemistry
2015

Anaplastic astrocytoma mimicking herpes simplex encephalitis in 13-year old girl.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
2015

Prognostic significance of multiple kallikreins in high-grade astrocytoma.

BMC cancer
2015

Differentiation between Solitary Cerebral Metastasis and Astrocytoma on the Basis of Subventricular Zone Involvement on Magnetic Resonance Imaging.

PloS one
2015

Radio-chemotherapy improves survival in IDH-mutant, 1p/19q non-codeleted secondary high-grade astrocytoma patients.

Journal of neuro-oncology
2015

Astrocytic tumour grading: a comparative study of three-dimensional pseudocontinuous arterial spin labelling, dynamic susceptibility contrast-enhanced perfusion-weighted imaging, and diffusion-weighted imaging.

European radiology
2015

Study of the biodistribution of fluorescein in glioma-infiltrated mouse brain and histopathological correlation of intraoperative findings in high-grade gliomas resected under fluorescein fluorescence guidance.

Journal of neurosurgery
2015

High-grade astrocytoma (Glioblastoma Multiforme) in an Atlantic spotted dolphin (Stenella frontalis).

Journal of comparative pathology
2016

The role of connexin43-Src interaction in astrocytomas: A molecular puzzle.

Neuroscience

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Doenças relacionadas

Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico

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. TERT Promoter Methylation in Glioblastoma and its Paradoxical Association with Upregulated Gene Expression.
    Neurology India· 2026· PMID 41817063mais citado
  2. High-Grade Astrocytoma With Piloid Features: An Aggressive Clinicogenomic Entity Distinct From Pilocytic Astrocytoma.
    Journal of Korean medical science· 2026· PMID 41807027mais citado
  3. Laser interstitial thermal therapy and adjuvant pembrolizumab in recurrent high-grade astrocytoma: a Phase 1/randomized Phase 2b trial.
    Nature communications· 2026· PMID 41748622mais citado
  4. Management of glioblastoma intramedullary spinal cord metastasis with advanced intraoperative techniques: a case series and systematic review.
    Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia· 2026· PMID 41734534mais citado
  5. Pediatric High-Grade Astrocytoma With Piloid Features: A Comprehensive Literature Review.
    Pediatric blood & cancer· 2026· PMID 41549586mais citado
  6. The "Azzopardi phenomenon" in high-grade astrocytoma with a PNET-like component.
    Clin Neuropathol· 2026· PMID 41914601recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:251561(Orphanet)
  2. MONDO:0016680(MONDO)
  3. GARD:20704(GARD (NIH))
  4. Variantes catalogadas(ClinVar)
  5. Busca completa no PubMed(PubMed)
  6. Q55786373(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

Astrocitoma de alto grau
Compêndio · Raras BR

Astrocitoma de alto grau

ORPHA:251561 · MONDO:0016680
Ensaios
16 ativos
Medicamentos
10 registrados
MedGen
UMLS
C3640999
Repurposing
2 candidatos
carmustineDNA alkylating agent|DNA inhibitor
temozolomideDNA alkylating agent
EuropePMC
Wikidata
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