Raras
Buscar doenças, sintomas, genes...
Glioma
ORPHA:182067DOENÇA RARA

É um tipo de tumor, benigno (não canceroso) ou maligno (canceroso), que pode surgir no cérebro ou na medula espinhal. Ele se desenvolve a partir das células gliais, que são células de suporte presentes no sistema nervoso. Os tumores que se originam dos astrócitos são chamados de tumores astrocíticos ou astrocitomas. Aqueles que surgem dos oligodendrócitos são conhecidos como tumores oligodendrogliais. Já os tumores que se desenvolvem a partir das células ependimárias são chamados de ependimomas.

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Introdução

O que você precisa saber de cara

📋

É um tipo de tumor, benigno (não canceroso) ou maligno (canceroso), que pode surgir no cérebro ou na medula espinhal. Ele se desenvolve a partir das células gliais, que são células de suporte presentes no sistema nervoso. Os tumores que se originam dos astrócitos são chamados de tumores astrocíticos ou astrocitomas. Aqueles que surgem dos oligodendrócitos são conhecidos como tumores oligodendrogliais. Já os tumores que se desenvolvem a partir das células ependimárias são chamados de ependimomas.

Pesquisas ativas
18 ensaios
3445 total registrados no ClinicalTrials.gov
Publicações científicas
793 artigos
Último publicado: 2026 Mar

Escala de raridade

CLASSIFICAÇÃO ORPHANET · BRASIL 2024
1-5 / 10 000
Ultra-rara
<1/50k
Muito rara
1/20k
Rara
1/10k
Pouco freq.
1/5k
Incomum
1/2k
Prevalência
26.0
Europe
🏥
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
18 sintomas
📏
Crescimento
11 sintomas
👁️
Olhos
9 sintomas
🫃
Digestivo
9 sintomas
🦴
Ossos e articulações
6 sintomas
👂
Ouvidos
6 sintomas

+ 66 sintomas em outras categorias

Características mais comuns

Episódios agudos de sintomas neuropáticos
Neoplasia
Escoliose
Fraqueza muscular
Comprometimento da linguagem
Morfologia anormal da substância branca cerebral
137sintomas
Sem dados (137)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 137 características clínicas mais associadas, ordenadas por frequência.

Episódios agudos de sintomas neuropáticosAcute episodes of neuropathic symptoms
NeoplasiaNeoplasm
EscolioseScoliosis
Fraqueza muscularMuscle weakness
Comprometimento da linguagemLanguage impairment

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Total histórico793PubMed
Últimos 10 anos200publicações
Pico202035 papers
Linha do tempo
2026Hoje · 2026🧪 1966Primeiro ensaio clínico📈 2020Ano 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

30 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
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
RELATranscription factor p65Candidate gene tested inAltamente restrito
FUNÇÃO

NF-kappa-B is a pleiotropic transcription factor present in almost all cell types and is the endpoint of a series of signal transduction events that are initiated by a vast array of stimuli related to many biological processes such as inflammation, immunity, differentiation, cell growth, tumorigenesis and apoptosis. NF-kappa-B is a homo- or heterodimeric complex formed by the Rel-like domain-containing proteins RELA/p65, RELB, NFKB1/p105, NFKB1/p50, REL and NFKB2/p52. The heterodimeric RELA-NFKB

LOCALIZAÇÃO

NucleusCytoplasm

VIAS BIOLÓGICAS (10)
TAK1-dependent IKK and NF-kappa-B activation TRAF6 mediated NF-kB activationRIP-mediated NFkB activation via ZBP1DEx/H-box helicases activate type I IFN and inflammatory cytokines production IkBA variant leads to EDA-ID
EXPRESSÃO TECIDUAL(Ubíquo)
Artéria tibial
113.1 TPM
Útero
107.8 TPM
Aorta
106.1 TPM
Nervo tibial
99.7 TPM
Cervix Endocervix
98.3 TPM
OUTRAS DOENÇAS (3)
mucocutaneous ulceration, chroniccombined immunodeficiency due to RELA haploinsufficiencyRELA fusion-positive ependymoma
HGNC:9955UniProt:Q04206
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
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
NF2MerlinCandidate gene tested inAltamente restrito
FUNÇÃO

Probable regulator of the Hippo/SWH (Sav/Wts/Hpo) signaling pathway, a signaling pathway that plays a pivotal role in tumor suppression by restricting proliferation and promoting apoptosis. Along with WWC1 can synergistically induce the phosphorylation of LATS1 and LATS2 and can probably function in the regulation of the Hippo/SWH (Sav/Wts/Hpo) signaling pathway. May act as a membrane stabilizing protein. May inhibit PI3 kinase by binding to AGAP2 and impairing its stimulating activity. Suppress

LOCALIZAÇÃO

Cell projection, filopodium membraneCell projection, ruffle membraneNucleusCytoplasm, perinuclear regionCytoplasmic granuleCytoplasm, cytoskeleton

VIAS BIOLÓGICAS (2)
Regulation of actin dynamics for phagocytic cup formationRHO GTPases activate PAKs
MECANISMO DE DOENÇA

Schwannomatosis, vestibular

An autosomal dominant neoplasia syndrome characterized by the development of multiple benign nerve sheath tumors called schwannomas, particularly affecting the vestibular nerve. Affected individuals usually present with bilateral vestibular schwannomas but can have schwannomas on other cranial, spinal, and peripheral/cutaneous nerves. Meningiomas are common, whereas 20 to 35% of affected individuals develop intramedullary spinal cord tumors called ependymomas. The condition is also characterized by several ophthalmic features such as lenticular opacities, retinal hamartoma, epiretinal membranes.

EXPRESSÃO TECIDUAL(Ubíquo)
Cerebelo
30.4 TPM
Cérebro - Hemisfério cerebelar
27.6 TPM
Córtex cerebral
25.9 TPM
Fibroblastos
25.9 TPM
Brain Frontal Cortex BA9
24.3 TPM
OUTRAS DOENÇAS (5)
NF2-related schwannomatosisfamilial meningiomamosaic NF2-related schwannomatosismeningioma
HGNC:7773UniProt:P35240
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
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
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
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
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
SMARCB1SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily B member 1Candidate gene tested inAltamente restrito
FUNÇÃO

Core component of the BAF (hSWI/SNF) complex. This ATP-dependent chromatin-remodeling complex plays important roles in cell proliferation and differentiation, in cellular antiviral activities and inhibition of tumor formation. The BAF complex is able to create a stable, altered form of chromatin that constrains fewer negative supercoils than normal. This change in supercoiling would be due to the conversion of up to one-half of the nucleosomes on polynucleosomal arrays into asymmetric structures

LOCALIZAÇÃO

Nucleus

VIAS BIOLÓGICAS (8)
RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not knownRMTs methylate histone argininesFormation of neuronal progenitor and neuronal BAF (npBAF and nBAF)Formation of the embryonic stem cell BAF (esBAF) complexFormation of the polybromo-BAF (pBAF) complex
MECANISMO DE DOENÇA

Rhabdoid tumor predisposition syndrome 1

A familial cancer syndrome predisposing to renal or extrarenal malignant rhabdoid tumors and to a variety of tumors of the central nervous system, including choroid plexus carcinoma, medulloblastoma, and central primitive neuroectodermal tumors. Rhabdoid tumors are the most aggressive and lethal malignancies occurring in early childhood.

EXPRESSÃO TECIDUAL(Ubíquo)
Linfócitos
136.4 TPM
Testículo
110.5 TPM
Cérebro - Hemisfério cerebelar
98.7 TPM
Cerebelo
93.5 TPM
Ovário
93.2 TPM
OUTRAS DOENÇAS (9)
rhabdoid tumor predisposition syndrome 1intellectual disability, autosomal dominant 15familial multiple meningiomaschwannomatosis
HGNC:11103UniProt:Q12824
COQ6Ubiquinone biosynthesis monooxygenase COQ6, mitochondrialCandidate gene tested inTolerante
FUNÇÃO

FAD-dependent monooxygenase required for two non-consecutive steps during ubiquinone biosynthesis (PubMed:26260787, PubMed:38425362). Required for the C5-ring hydroxylation during ubiquinone biosynthesis by catalyzing the hydroxylation of 4-hydroxy-3-(all-trans-decaprenyl)benzoic acid to 3,4-dihydroxy-5-(all-trans-decaprenyl)benzoic acid (PubMed:26260787, PubMed:38425362). Also acts downstream of COQ4, for the C1-hydroxylation during ubiquinone biosynthesis by catalyzing the hydroxylation of 2-m

LOCALIZAÇÃO

Mitochondrion inner membraneGolgi apparatusCell projection

VIAS BIOLÓGICAS (1)
Ubiquinol biosynthesis
MECANISMO DE DOENÇA

Coenzyme Q10 deficiency, primary, 6

An autosomal recessive disorder characterized by onset in infancy of severe progressive nephrotic syndrome resulting in end-stage renal failure and sensorineural deafness. Renal biopsy usually shows focal segmental glomerulosclerosis.

VIAS REACTOME (1)
OUTRAS DOENÇAS (2)
familial steroid-resistant nephrotic syndrome with sensorineural deafnessschwannomatosis
HGNC:20233UniProt:Q9Y2Z9
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
KRASGTPase KRasCandidate gene tested inAltamente restrito
FUNÇÃO

Ras proteins bind GDP/GTP and possess intrinsic GTPase activity (PubMed:20949621, PubMed:39809765). Plays an important role in the regulation of cell proliferation (PubMed:22711838, PubMed:23698361). Activates MAPK1/MAPK3 resulting in phosphorylation and ultimately degradation of GJA1 (By similarity). Plays a role in promoting oncogenic events by inducing transcriptional silencing of tumor suppressor genes (TSGs) in colorectal cancer (CRC) cells in a ZNF304-dependent manner (PubMed:24623306)

LOCALIZAÇÃO

Cell membraneEndomembrane systemCytoplasm, cytosol

VIAS BIOLÓGICAS (2)
Signaling by moderate kinase activity BRAF mutantsRUNX3 regulates p14-ARF
MECANISMO DE DOENÇA

Leukemia, acute myelogenous

A subtype of acute leukemia, a cancer of the white blood cells. AML is a malignant disease of bone marrow characterized by maturational arrest of hematopoietic precursors at an early stage of development. Clonal expansion of myeloid blasts occurs in bone marrow, blood, and other tissue. Myelogenous leukemias develop from changes in cells that normally produce neutrophils, basophils, eosinophils and monocytes.

EXPRESSÃO TECIDUAL(Ubíquo)
Nervo tibial
30.7 TPM
Cérebro - Hemisfério cerebelar
25.1 TPM
Esôfago - Muscular
22.2 TPM
Esôfago - Mucosa
21.6 TPM
Esôfago - Junção
20.2 TPM
OUTRAS DOENÇAS (20)
gastric canceracute myeloid leukemialinear nevus sebaceous syndromeNoonan syndrome 3
HGNC:6407UniProt:P01116
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
RAF1RAF proto-oncogene serine/threonine-protein kinaseCandidate gene tested inAltamente restrito
FUNÇÃO

Serine/threonine-protein kinase that acts as a regulatory link between the membrane-associated Ras GTPases and the MAPK/ERK cascade, and this critical regulatory link functions as a switch determining cell fate decisions including proliferation, differentiation, apoptosis, survival and oncogenic transformation. RAF1 activation initiates a mitogen-activated protein kinase (MAPK) cascade that comprises a sequential phosphorylation of the dual-specific MAPK kinases (MAP2K1/MEK1 and MAP2K2/MEK2) and

LOCALIZAÇÃO

CytoplasmCell membraneMitochondrionNucleus

VIAS BIOLÓGICAS (5)
IFNG signaling activates MAPKsCD209 (DC-SIGN) signalingStimuli-sensing channelsGP1b-IX-V activation signallingRap1 signalling
MECANISMO DE DOENÇA

Noonan syndrome 5

A form of Noonan syndrome, a disease characterized by short stature, facial dysmorphic features such as hypertelorism, a downward eyeslant and low-set posteriorly rotated ears, and a high incidence of congenital heart defects and hypertrophic cardiomyopathy. Other features can include a short neck with webbing or redundancy of skin, deafness, motor delay, variable intellectual deficits, multiple skeletal defects, cryptorchidism, and bleeding diathesis. Individuals with Noonan syndrome are at risk of juvenile myelomonocytic leukemia, a myeloproliferative disorder characterized by excessive production of myelomonocytic cells.

EXPRESSÃO TECIDUAL(Ubíquo)
Músculo esquelético
152.2 TPM
Artéria tibial
139.4 TPM
Cérebro - Hemisfério cerebelar
134.9 TPM
Sangue
131.1 TPM
Ovário
129.4 TPM
OUTRAS DOENÇAS (9)
Noonan syndrome 5LEOPARD syndrome 2dilated cardiomyopathy 1NNNoonan syndrome
HGNC:9829UniProt:P04049
QKIKH domain-containing RNA-binding protein QKICandidate gene tested inAltamente restrito
FUNÇÃO

RNA reader protein, which recognizes and binds specific RNAs, thereby regulating RNA metabolic processes, such as pre-mRNA splicing, circular RNA (circRNA) formation, mRNA export, mRNA stability and/or translation (PubMed:22398723, PubMed:23630077, PubMed:25768908, PubMed:27029405, PubMed:31331967, PubMed:37379838). Involved in various cellular processes, such as mRNA storage into stress granules, apoptosis, lipid deposition, interferon response, glial cell fate and development (PubMed:25768908,

LOCALIZAÇÃO

NucleusCytoplasmCytoplasm, cytosolCytoplasm, Stress granule

VIAS BIOLÓGICAS (1)
Signaling by BRAF and RAF1 fusions
EXPRESSÃO TECIDUAL(Ubíquo)
Brain Spinal cord cervical c-1
141.1 TPM
Nervo tibial
107.5 TPM
Substância negra
63.5 TPM
Cérebro - Amígdala
49.6 TPM
Hipocampo
48.3 TPM
OUTRAS DOENÇAS (1)
angiocentric glioma
HGNC:21100UniProt:Q96PU8
SH3PXD2ASH3 and PX domain-containing protein 2ACandidate gene tested inAltamente restrito
FUNÇÃO

Adapter protein involved in invadopodia and podosome formation, extracellular matrix degradation and invasiveness of some cancer cells (PubMed:27789576). Binds matrix metalloproteinases (ADAMs), NADPH oxidases (NOXs) and phosphoinositides. Acts as an organizer protein that allows NOX1- or NOX3-dependent reactive oxygen species (ROS) generation and ROS localization. In association with ADAM12, mediates the neurotoxic effect of amyloid-beta peptide

LOCALIZAÇÃO

CytoplasmCell projection, podosome

VIAS BIOLÓGICAS (2)
Invadopodia formationCDC42 GTPase cycle
EXPRESSÃO TECIDUAL(Ubíquo)
Cervix Ectocervix
133.9 TPM
Nervo tibial
122.7 TPM
Cervix Endocervix
116.5 TPM
Útero
90.9 TPM
Fibroblastos
75.5 TPM
OUTRAS DOENÇAS (2)
malignant triton tumormalignant perineurioma
HGNC:23664UniProt:Q5TCZ1
BRAFSerine/threonine-protein kinase B-rafCandidate gene tested inAltamente restrito
FUNÇÃO

Protein kinase involved in the transduction of mitogenic signals from the cell membrane to the nucleus (Probable). Phosphorylates MAP2K1, and thereby activates the MAP kinase signal transduction pathway (PubMed:21441910, PubMed:29433126). Phosphorylates PFKFB2 (PubMed:36402789). May play a role in the postsynaptic responses of hippocampal neurons (PubMed:1508179)

LOCALIZAÇÃO

NucleusCytoplasmCell membrane

VIAS BIOLÓGICAS (4)
Spry regulation of FGF signalingParadoxical activation of RAF signaling by kinase inactive BRAFARMS-mediated activationSignalling to p38 via RIT and RIN
OUTRAS DOENÇAS (18)
Noonan syndrome 7LEOPARD syndrome 3melanoma, cutaneous malignant, susceptibility to, 1lung cancer
HGNC:1097UniProt:P15056
KIAA1549UPF0606 protein KIAA1549Candidate gene tested inRestrito
FUNÇÃO

May play a role in photoreceptor function

LOCALIZAÇÃO

MembraneCell projection, cilium

VIAS BIOLÓGICAS (1)
Signaling by BRAF and RAF1 fusions
MECANISMO DE DOENÇA

Retinitis pigmentosa 86

A form of retinitis pigmentosa, a retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. RP86 is an autosomal recessive form.

EXPRESSÃO TECIDUAL(Baixa expressão)
Brain Frontal Cortex BA9
5.0 TPM
Córtex cerebral
4.9 TPM
Útero
3.9 TPM
Pituitária
3.6 TPM
Glândula salivar
3.5 TPM
OUTRAS DOENÇAS (3)
retinitis pigmentosa 86pilomyxoid astrocytomaretinitis pigmentosa
HGNC:22219UniProt:Q9HCM3
SRGAP3SLIT-ROBO Rho GTPase-activating protein 3Candidate gene tested inAltamente restrito
FUNÇÃO

GTPase-activating protein for RAC1 and perhaps Cdc42, but not for RhoA small GTPase. May attenuate RAC1 signaling in neurons

LOCALIZAÇÃO

VIAS BIOLÓGICAS (3)
Inactivation of CDC42 and RAC1RAC1 GTPase cycleCDC42 GTPase cycle
EXPRESSÃO TECIDUAL(Ubíquo)
Cerebelo
54.4 TPM
Cérebro - Hemisfério cerebelar
50.9 TPM
Córtex cerebral
19.1 TPM
Brain Frontal Cortex BA9
18.9 TPM
Brain Anterior cingulate cortex BA24
11.8 TPM
OUTRAS DOENÇAS (1)
pilomyxoid astrocytoma
HGNC:19744UniProt:O43295
HTRA1Serine protease HTRA1Candidate gene tested inTolerante
FUNÇÃO

Serine protease with a variety of targets, including extracellular matrix proteins such as fibronectin. HTRA1-generated fibronectin fragments further induce synovial cells to up-regulate MMP1 and MMP3 production. May also degrade proteoglycans, such as aggrecan, decorin and fibromodulin. Through cleavage of proteoglycans, may release soluble FGF-glycosaminoglycan complexes that promote the range and intensity of FGF signals in the extracellular space. Regulates the availability of insulin-like g

LOCALIZAÇÃO

Cell membraneSecretedCytoplasm, cytosol

VIAS BIOLÓGICAS (1)
Degradation of the extracellular matrix
EXPRESSÃO TECIDUAL(Ubíquo)
Aorta
810.7 TPM
Ovário
602.0 TPM
Cervix Ectocervix
551.9 TPM
Fibroblastos
518.4 TPM
Artéria tibial
426.1 TPM
OUTRAS DOENÇAS (5)
cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2CARASIL syndromemalignant perineuriomaHTRA1-related autosomal dominant cerebral small vessel disease
HGNC:9476UniProt:Q92743
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
ZFTAZinc finger translocation-associated proteinCandidate gene tested inTolerante
LOCALIZAÇÃO

OUTRAS DOENÇAS (2)
ependymomaRELA fusion-positive ependymoma
HGNC:28449UniProt:C9JLR9
POT1Protection of telomeres protein 1Candidate gene tested inTolerante
FUNÇÃO

Component of the telomerase ribonucleoprotein (RNP) complex that is essential for the replication of chromosome termini. Is a component of the double-stranded telomeric DNA-binding TRF1 complex which is involved in the regulation of telomere length by cis-inhibition of telomerase. Also acts as a single-stranded telomeric DNA-binding protein and thus may act as a downstream effector of the TRF1 complex and may transduce information about telomere maintenance and/or length to the telomere terminus

LOCALIZAÇÃO

NucleusChromosome, telomere

VIAS BIOLÓGICAS (10)
DNA Damage/Telomere Stress Induced SenescencePackaging Of Telomere EndsMeiotic synapsisInhibition of DNA recombination at telomereTelomere C-strand (Lagging Strand) Synthesis
MECANISMO DE DOENÇA

Tumor predisposition syndrome 3

An autosomal dominant disorder characterized by an increased risk for the development of various types of benign and malignant neoplasms throughout life, with age-dependent penetrance. Affected individuals can develop neoplasms involving epithelial, mesenchymal, and neuronal tissues, as well as lymphoid and myeloid cancers. The disorder is associated with elongated telomeres.

EXPRESSÃO TECIDUAL(Ubíquo)
Linfócitos
22.7 TPM
Nervo tibial
15.9 TPM
Testículo
15.3 TPM
Cervix Ectocervix
13.7 TPM
Útero
13.5 TPM
OUTRAS DOENÇAS (7)
tumor predisposition syndrome 3pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 8cerebroretinal microangiopathy with calcifications and cysts 3oligodendroglioma
HGNC:17284UniProt:Q9NUX5
MYBTranscriptional activator MybCandidate gene tested inAltamente restrito
FUNÇÃO

Transcriptional activator; DNA-binding protein that specifically recognize the sequence 5'-YAAC[GT]G-3'. Plays an important role in the control of proliferation and differentiation of hematopoietic progenitor cells

LOCALIZAÇÃO

Nucleus

VIAS BIOLÓGICAS (5)
RUNX1 regulates transcription of genes involved in differentiation of HSCsSpecification of the neural plate borderTranscriptional regulation of granulopoiesisFactors involved in megakaryocyte development and platelet productionEstrogen-dependent gene expression
EXPRESSÃO TECIDUAL(Tecido-específico)
Linfócitos
17.3 TPM
Cólon transverso
12.6 TPM
Intestino delgado
4.8 TPM
Mama
4.2 TPM
Skin Sun Exposed Lower leg
3.8 TPM
OUTRAS DOENÇAS (3)
angiocentric gliomaprecursor T-cell acute lymphoblastic leukemiaacute basophilic leukemia
HGNC:7545UniProt:P10242
NTRK2BDNF/NT-3 growth factors receptorCandidate gene tested inAltamente restrito
FUNÇÃO

Receptor tyrosine kinase involved in the development and the maturation of the central and the peripheral nervous systems through regulation of neuron survival, proliferation, migration, differentiation, and synapse formation and plasticity (By similarity). Receptor for BDNF/brain-derived neurotrophic factor and NTF4/neurotrophin-4. Alternatively can also bind NTF3/neurotrophin-3 which is less efficient in activating the receptor but regulates neuron survival through NTRK2 (PubMed:15494731, PubM

LOCALIZAÇÃO

Cell membraneEndosome membraneEarly endosome membraneCell projection, axonCell projection, dendriteCytoplasm, perinuclear regionPostsynaptic density

VIAS BIOLÓGICAS (4)
NTF4 activates NTRK2 (TRKB) signalingBDNF activates NTRK2 (TRKB) signalingNTF3 activates NTRK2 (TRKB) signalingActivated NTRK2 signals through FYN
MECANISMO DE DOENÇA

Developmental and epileptic encephalopathy 58

A form of epileptic encephalopathy, a heterogeneous group of severe early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE58 is an autosomal dominant condition characterized by onset of refractory seizures in the first days or months of life.

EXPRESSÃO TECIDUAL(Ubíquo)
Brain Anterior cingulate cortex BA24
79.5 TPM
Brain Frontal Cortex BA9
75.0 TPM
Córtex cerebral
74.2 TPM
Brain Caudate basal ganglia
73.0 TPM
Cérebro - Amígdala
73.0 TPM
OUTRAS DOENÇAS (5)
developmental and epileptic encephalopathy, 58obesity, hyperphagia, and developmental delaypilomyxoid astrocytomaearly-onset obesity-hyperphagia-severe developmental delay syndrome
HGNC:8032UniProt:Q16620

Variantes genéticas (ClinVar)

150 variantes patogênicas registradas no ClinVar.

🧬 IDH2: GRCh38/hg38 15q26.1-26.3(chr15:90068508-101888837)x3 ()
🧬 IDH2: NM_002168.4(IDH2):c.800A>G (p.Gln267Arg) ()
🧬 IDH2: GRCh37/hg19 15q26.1-26.3(chr15:90569376-102369410)x1 ()
🧬 IDH2: NM_002168.4(IDH2):c.448G>C (p.Glu150Gln) ()
🧬 IDH2: NM_002168.4(IDH2):c.1081-60C>G ()
Ver todas no ClinVar

Vias biológicas (Reactome)

220 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 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 Activation of NF-kappaB in B cells RIP-mediated NFkB activation via ZBP1 Regulated proteolysis of p75NTR Downstream TCR signaling NF-kB is activated and signals survival Senescence-Associated Secretory Phenotype (SASP) FCERI mediated NF-kB activation DEx/H-box helicases activate type I IFN and inflammatory cytokines production PKMTs methylate histone lysines Transcriptional regulation of white adipocyte differentiation TAK1-dependent IKK and NF-kappa-B activation Interleukin-1 processing SUMOylation of immune response proteins IkBA variant leads to EDA-ID Dectin-1 mediated noncanonical NF-kB signaling CLEC7A (Dectin-1) signaling CD209 (DC-SIGN) signaling CLEC7A/inflammasome pathway The NLRP3 inflammasome Transcriptional Regulation by VENTX Interleukin-1 signaling TRAF6 mediated NF-kB activation Purinergic signaling in leishmaniasis infection SARS-CoV-1 activates/modulates innate immune responses Regulation of NFE2L2 gene expression Turbulent (oscillatory, disturbed) flow shear stress activates signaling by PIEZO1 and integrins in endothelial cells Regulation of PD-L1(CD274) transcription 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 Signaling by plasma membrane FGFR1 fusions Regulation of actin dynamics for phagocytic cup formation RHO GTPases activate PAKs Signaling by ERBB2 Constitutive Signaling by Ligand-Responsive EGFR Cancer Variants Signaling by ERBB4 SHC1 events in ERBB2 signaling PLCG1 events in ERBB2 signaling PIP3 activates AKT 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 Aberrant PI3K in Cancer Signal transduction by L1 Constitutive Signaling by EGFRvIII Inhibition of Signaling by Overexpressed EGFR RAF/MAP kinase cascade ERBB2 Regulates Cell Motility PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling 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 PPARA activates gene expression 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 Negative regulation of NOTCH4 signaling Dengue virus modulates apoptosis RMTs methylate histone arginines RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known Regulation of MITF-M-dependent genes involved in pigmentation Regulation of endogenous retroelements by Piwi-interacting RNAs (piRNAs) Formation of the canonical BAF (cBAF) complex Formation of the polybromo-BAF (pBAF) complex Formation of the embryonic stem cell BAF (esBAF) complex Formation of neuronal progenitor and neuronal BAF (npBAF and nBAF) Ubiquinol biosynthesis SOS-mediated signalling Activation of RAS in B cells SHC1 events in ERBB4 signaling Signaling by SCF-KIT Signalling to RAS p38MAPK events Downstream signal transduction Tie2 Signaling DAP12 signaling SHC-related events triggered by IGF1R FCERI mediated MAPK activation NCAM signaling for neurite out-growth Ca2+ pathway Ras activation upon Ca2+ influx through NMDA receptor VEGFR2 mediated cell proliferation SHC-mediated cascade:FGFR1 FRS-mediated FGFR1 signaling SHC-mediated cascade:FGFR2 FRS-mediated FGFR2 signaling SHC-mediated cascade:FGFR3 FRS-mediated FGFR3 signaling FRS-mediated FGFR4 signaling PI3K Cascade 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 Phospholipase C-mediated cascade: FGFR1 Downstream signaling of activated FGFR1 PI-3K cascade:FGFR1 Negative regulation of FGFR1 signaling Signaling by FGFR1 in disease Epithelial-Mesenchymal Transition (EMT) during gastrulation Formation of paraxial mesoderm Stimuli-sensing channels Rap1 signalling GP1b-IX-V activation signalling RAF activation MAP2K and MAPK activation Negative feedback regulation of MAPK pathway Negative regulation of MAPK pathway Signaling by moderate kinase activity BRAF mutants Signaling by high-kinase activity BRAF mutants Signaling by BRAF and RAF1 fusions Paradoxical activation of RAF signaling by kinase inactive BRAF Signaling downstream of RAS mutants Signaling by RAF1 mutants SHOC2 M1731 mutant abolishes MRAS complex function Gain-of-function MRAS complexes activate RAF signaling IFNG signaling activates MAPKs Invadopodia formation CDC42 GTPase cycle Spry regulation of FGF signaling Frs2-mediated activation ARMS-mediated activation Signalling to p38 via RIT and RIN Inactivation of CDC42 and RAC1 RAC1 GTPase cycle Degradation of the extracellular matrix 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 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 Recognition and association of DNA glycosylase with site containing an affected pyrimidine Cleavage of the damaged pyrimidine Recognition and association of DNA glycosylase with site containing an affected purine Cleavage of the damaged purine Meiotic synapsis Packaging Of Telomere Ends Telomere Extension By Telomerase Polymerase switching on the C-strand of the telomere Processive synthesis on the C-strand of the telomere Telomere C-strand (Lagging Strand) Synthesis Telomere C-strand synthesis initiation Removal of the Flap Intermediate from the C-strand Inhibition of DNA recombination at telomere RUNX1 regulates transcription of genes involved in differentiation of HSCs Estrogen-dependent gene expression Transcriptional regulation of granulopoiesis Factors involved in megakaryocyte development and platelet production Specification of the neural plate border NGF-independant TRKA activation BDNF activates NTRK2 (TRKB) signaling NTF3 activates NTRK2 (TRKB) signaling NTF4 activates NTRK2 (TRKB) signaling Activated NTRK2 signals through RAS Activated NTRK2 signals through PLCG1 Activated NTRK2 signals through PI3K Activated NTRK2 signals through FRS2 and FRS3 Activated NTRK2 signals through FYN NTRK2 activates RAC1 Activated NTRK2 signals through CDK5

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
Pipeline regulatório — de medicamentos já aprovados a drogas em pesquisa exploratória.
Aprovado1
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2Fase 27
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·Pré-clínico5
Medicamentos catalogadosEnsaios clínicos· 0 medicamentos · 20 ensaios
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Onde tratar no SUS

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

🇧🇷 Atendimento SUS — Glioma

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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

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Outros ensaios clínicos

3.445 ensaios clínicos encontrados, 18 ativos.

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

📖Melhor nível de evidência: Revisão
Timeline de publicações
312 papers (10 anos)
#1

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, Inc2026 Jan

Para tumores neuroectodérmicos raros do ovário, de difícil diagnóstico e tratamento, este estudo explorou a aplicação do perfil de metilação de DNA. Essa técnica permitiu classificar esses tumores em subtipos moleculares semelhantes aos do sistema nervoso central (SNC), oferecendo insights cruciais para um diagnóstico mais preciso, prognóstico (inclusive a identificação de subtipos com desfechos muito ruins) e a potencial aplicação de estratégias terapêuticas já utilizadas para tumores cerebrais.

🇧🇷 traduzido
#2

Innovative aptamer approaches in glial tumor diagnostics and therapy: Progress and future directions.

Molecular therapy. Nucleic acids2025 Dec 09

O diagnóstico e tratamento de tumores gliais, especialmente glioblastomas, são grandes desafios para médicos e pacientes devido à sua complexidade e à dificuldade de acesso a essas áreas cerebrais. Este artigo destaca os aptâmeros – moléculas com alta especificidade – como uma abordagem inovadora e promissora. Eles podem aprimorar o diagnóstico, tornando-o mais preciso e menos invasivo (via exames de imagem ou biópsia líquida), e melhorar a visualização do tumor durante cirurgias. Além disso, os aptâmeros permitem a entrega direcionada de medicamentos e terapias diretamente às células tumorais, visando maior eficácia e redução de efeitos colaterais, prometendo melhores resultados para os pacientes no futuro.

🇧🇷 traduzido
#3

Environmental Hazards and Glial Brain Tumors: Association or Causation?

International journal of molecular sciences2025 Aug 01

Este artigo destaca a importância crucial de identificar fatores de risco ambientais para tumores cerebrais gliais, como o glioblastoma, devido ao seu prognóstico grave e opções de tratamento limitadas. Além de causas estabelecidas como irradiação cerebral e síndromes genéticas, o uso de tabaco é considerado um fator provável, impactando não só o DNA mas também o microambiente tumoral. Compreender e verificar esses riscos é fundamental para que médicos e pacientes possam adotar medidas preventivas, melhorar o manejo clínico e fazer escolhas de estilo de vida que possam reduzir o risco de desenvolvimento ou progressão desses tumores.

🇧🇷 traduzido
#4

Glial Tumor Metastasizing to Bone Marrow: A Rare Journey.

Indian journal of hematology &amp; blood transfusion : an official journal of Indian Society of Hematology and Blood Transfusion2025 Jul

Este artigo científico destaca que tumores gliais raramente se espalham para fora do sistema nervoso, sendo a metástase para a medula óssea algo excepcionalmente incomum. O estudo descreve um caso raro dessa ocorrência, oferecendo informações cruciais para médicos sobre como diagnosticar e compreender padrões incomuns de disseminação em tumores gliais. Isso é vital para que estejam cientes dessa possibilidade, embora rara, no manejo e acompanhamento de pacientes.

🇧🇷 traduzido
#5

Glioma mimicking a cystic infectious disease: A case report of multifocal, multicentric cystic glioblastoma.

Surgical neurology international2025

Este artigo relata um caso raro e desafiador de glioblastoma (GBM) que se apresentou de forma atípica, multifocal e multicística, mimetizando fortemente uma doença infecciosa cerebral, mesmo com testes repetidamente negativos para infecção. A complexidade do quadro levou a um diagnóstico inicial equivocado, com o tumor glial de alto grau sendo revelado apenas pela patologia definitiva. Este caso serve como um lembrete crucial para médicos e pacientes de que o GBM é um "grande mimetizador", capaz de ter múltiplas aparências, tornando o diagnóstico de lesões císticas cerebrais um desafio considerável.

🇧🇷 traduzido

Publicações recentes

Ver todas no PubMed

📚 EuropePMC124 artigos no totalmostrando 199

2025

[Topic modeling of literature in glioma radiomics].

Zhurnal voprosy neirokhirurgii imeni N. N. Burdenko
2025

A PET-CT study of the uptake of labeled aptamers [18F]FB-Gol1 and [18F]FB-GR20 in rat 101.8 glioblastoma model.

Frontiers in oncology
2025

Innovative aptamer approaches in glial tumor diagnostics and therapy: Progress and future directions.

Molecular therapy. Nucleic acids
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
2025

Possible involvement of cerebrospinal fluid drop metastasis in the survival of French bulldogs after radiotherapy for presumed glial brain tumors.

Open veterinary journal
2025

New experimental therapies for glioblastoma: a review of preclinical research.

Acta neuropathologica communications
2025

Investigation of Intraoperative and Permanent Diagnostic Consistency in Glial Tumors Considering Rater and Technical Variability.

Medicina (Kaunas, Lithuania)
2025

Case Report: Multimodal management of a rare pediatric astroblastoma using proton beam therapy and Gamma Knife radiosurgery-a case report and literature review.

Frontiers in oncology
2025

Coexistence of IDH1 Mutation and KIAA1549::BRAF Fusion in a Diffuse Glioma: A Case Report With Clinical, Radiological, and Pathological Correlation.

Neuropathology : official journal of the Japanese Society of Neuropathology
2025

Environmental Hazards and Glial Brain Tumors: Association or Causation?

International journal of molecular sciences
2025

The Association between p53 Expression and Histopathology Grade of Astrocytoma.

Asian Pacific journal of cancer prevention : APJCP
2025

Glial Tumor Metastasizing to Bone Marrow: A Rare Journey.

Indian journal of hematology &amp; blood transfusion : an official journal of Indian Society of Hematology and Blood Transfusion
2025

Glioma mimicking a cystic infectious disease: A case report of multifocal, multicentric cystic glioblastoma.

Surgical neurology international
2025

Reliability of Frameless Stereotactic Brain Biopsy for Complicated Lesions: Multicenter Experiences.

Neurology India
2025

Myxopapillary Ependymoma: A Case Report.

Cureus
2025

The Significance of Relative Cerebral Blood Volume Index in Discriminating Glial Tumors from Brain Metastasis Using Perfusion Magnetic Resonance Imaging.

Diagnostics (Basel, Switzerland)
2025

Targeting the Cargo Receptor TMED9 as a Therapeutic Strategy Against Brain Tumors.

Cells
2025

Endoscopic transorbital approach with electrocorticography for resection of anterior temporal lobe mass.

Neurosurgical focus: Video
2025

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

Acta neuropathologica communications
2025

Recurrent pineal tumor in a young adult male: Challenges in diagnosis and multimodal treatment management.

Radiology case reports
2025

Assessing the impact of CD73 inhibition on overcoming anti-EGFR resistance in glioma cells.

Oncology research
2025

A rare case of gliosarcoma: Comprehensive radiological, histopathological, and clinical insights into diagnosis and management.

Radiology case reports
2025

Cutting-edge technologies illuminate the neural landscape of cancer: Insights into tumor development.

Cancer letters
2025

Cost-effective isolation of Viburnum opulus-derived nanovesicles and evaluation of their cytotoxic, anticancer, and antioxidant properties on human glioblastoma cell line U87MG.

Medical oncology (Northwood, London, England)
2025

Rare glioblastoma subtype masquerading as a poorly differentiated carcinoma: illustrative case.

Journal of neurosurgery. Case lessons
2025

Vanishing Contrast Enhancement of a Diffuse Midline Glioma.

Neuropathology : official journal of the Japanese Society of Neuropathology
2025

Tight junction proteins in glial tumors development and progression.

Frontiers in cellular neuroscience
2025

Liquid biopsy for detection of H3K27m and BRAF V600E mutations in patients with diffuse brainstem tumors.

Zhurnal voprosy neirokhirurgii imeni N. N. Burdenko
2025

Molecular Characteristics of a ZFTA::RELA Fusion Gliosarcoma: A Case Report.

International journal of surgical pathology
2025

Establishing a living biobank of pediatric high-grade glioma and ependymoma suitable for cancer pharmacology.

Neuro-oncology
2025

Molecular profile of adult primary leptomeningeal gliomatosis aligns with glioblastoma, IDH-wildtype.

Brain pathology (Zurich, Switzerland)
2024

[Liquid biopsy in diagnosis of central nervous system tumors].

Zhurnal voprosy neirokhirurgii imeni N. N. Burdenko
2025

Are PDFGRA Dinucleotide Alterations Definitional for Myxoid Glioneuronal Tumor? Report of PDFRA p. K385L Mutation in a Neonatal High-Grade Glioma.

Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society
2024

Imaging-tracked progression of primary leptomeningeal gliomatosis: A case report.

Surgical neurology international
2024

Giant intracranial tuberculomas in children: An unexpected diagnosis and difficult management - About two cases and review of the literature.

Surgical neurology international
2025

Glial transformation of a DNET: About a case.

Radiology case reports
2024

Astroblastoma: A molecularly defined entity, its clinico-radiological & pathological analysis of eight cases and review of literature.

Pathology, research and practice
2024

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

Radiology case reports
2025

The impact of gliomas on the normal brain microenvironment: a pilot study.

Journal of histotechnology
2024

Heterogeneous expression of the atypical chemokine receptor ACKR3 in glioblastoma patient-derived tissue samples and cell cultures.

Scientific reports
2024

Evaluation of glial tumors: correlation between magnetic resonance imaging and histopathological analysis.

Radiologia brasileira
2024

Ventricular system-unrelated cerebellar ependymoma: A case report.

World journal of clinical cases
2024

Mimickers of nervous system involvement among patients with Behçet's syndrome.

Journal of neurology
2024

Physical therapy enhances physical and functional abilities in a female patient with gliomatosis cerebri.

Anales del sistema sanitario de Navarra
2024

Survival and Prognostic Factors in Re-irradiation for Recurrent/Progressive Malignant Gliomas: Turkish Society of Radiation Oncology Neuro-Oncology Group, TROD 007-006 Study.

Turkish neurosurgery
2024

Diffuse leptomeningeal glioneuronal tumor with distinct neuronal and glial components but identical diagnostic molecular and genetic features.

Neuropathology : official journal of the Japanese Society of Neuropathology
2024

Hybrid Positron Emission Tomography and Magnetic Resonance Imaging Guided Microsurgical Management of Glial Tumors: Case Series and Review of the Literature.

Diagnostics (Basel, Switzerland)
2024

FET PET provides adjunctive value to FDG PET in distinction of spinal cord tumors.

Heliyon
2024

A rare case of coexistence of meningioma and glioma in a single patient: A case report from Nepal.

International journal of surgery case reports
2024

Intraoperative MRI without an intraoperative MRI suite: a workflow for glial tumor surgery.

Acta neurochirurgica
2025

Pleomorphic Xanthoastrocytoma: Multi-Institutional Evaluation of Stereotactic Radiosurgery.

Neurosurgery
2024

Isocitrate Dehydrogenase Inhibitors in Glioma: From Bench to Bedside.

Pharmaceuticals (Basel, Switzerland)
2024

Integrin receptor-targeted, doxorubicin-loaded cerium oxide nanoparticles delivery to combat glioblastoma.

Nanomedicine (London, England)
2024

Toxicity of Large and Small Surface-Engineered Upconverting Nanoparticles for In Vitro and In Vivo Bioapplications.

International journal of molecular sciences
2024

Hydrocephalus following Brain Tumor Surgery: Factors Correlating with Occurrence of Postoperative Hydrocephalus and Predictive Scoring Model.

Asian journal of neurosurgery
2024

Prognostic significance of systemic inflammatory parameters in high-grade glial tumor patients: Two center experience.

Medicine
2024

Rare vermian pilocytic astrocytoma with recurrent spontaneous hemorrhage in the elderly: A case report and review of literature.

Surgical neurology international
2024

Navigating the Diagnosis and Treatment of Astroblastoma: A Pediatric Case Report.

Cureus
2025

Papillary glioneuronal tumor: A rare case with recent updates as per 2021 CNS WHO 5 th classification.

Indian journal of pathology &amp; microbiology
2024

MYCN immunohistochemistry as surrogate marker for MYCN-amplified spinal ependymomas.

Human cell
2024

Spinal astroblastoma, MN1 altered in 3-year-old child: An uncommon tumor at an unusual site.

Neuropathology : official journal of the Japanese Society of Neuropathology
2024

Fusion of old and new: Employing touch imprint slides for next generation sequencing in solid tumors.

Diagnostic cytopathology
2024

Laser interstitial thermal therapy as a radiation-sparing approach for central nervous system tumors in children with cancer predisposition syndromes: report of a child with Li-Fraumeni syndrome. Illustrative case.

Journal of neurosurgery. Case lessons
2024

An Investigation into the Relationship of SUR-1TRPM4 Receptor with Peritumoral Edema in High-Grade Glial Tumors.

Turkish neurosurgery
2023

CyberKnife Radiosurgery for Extracranial Metastases of Oligodendroglioma: A Clinical Case Report.

Cureus
2024

Immunotherapy with autologous dendritic cells in the complex treatment of malignant gliomas - results.

Journal of neuro-oncology
2024

Pediatric H3K27M‑mutant diffuse midline glioma with vertebral metastasis: A case report and literature review.

Oncology letters
2023

In vitro investigation of the effects of high-intensity therapeutic ultrasound (HITU) in glial tumor cell culture.

European review for medical and pharmacological sciences
2024

Navigating the calvaria with mobile mixed reality-based neurosurgical planning: how feasible are smartphone applications as a craniotomy guide?

Neurosurgical focus
2023

A 10-Year Survival-Trend Analysis of Low-Grade Glioma and Treatment Patterns from an LMIC.

Asian journal of neurosurgery
2023

Retinal hamartomas at different stages in a patient with tuberous sclerosis: A OCT-SS description.

Clinical case reports
2023

Immunohistochemical Analysis of PD-1 and FOXP3 in Tumor-Infiltrating Lymphocytes in Human Gliomas.

Cureus
2023

Parapharyngeal meningioma extending through foramen ovale: a case report.

Frontiers in oncology
2023

Personalized Treatment of Glioblastoma: Current State and Future Perspective.

Biomedicines
2023

Monitoring of breast cancer progression via aptamer-based detection of circulating tumor cells in clinical blood samples.

Frontiers in molecular biosciences
2023

Clinicopathological and Immunohistochemistry Study of a Long Survivor of Giant Cell Glioblastoma in a Patient With Neurofibromatosis 1: Case Report.

Cureus
2023

Surgical Treatment of a Supratentorial Extraventricular Ependymoma: A Case Report.

Cureus
2022

Pigmented ependymoma, a tumor with predilection for the middle-aged adult: case report with methylation classification and review of 16 literature cases.

Free neuropathology
2023

Diffusion restriction associated with bevacizumab treatment in recurrent glial tumors, evaluation of survival with ADC measurement analysis.

European review for medical and pharmacological sciences
2024

Magnetic resonance relaxometry in quantitative imaging of brain gliomas: A literature review.

The neuroradiology journal
2023

Hemangiopericytoma of the central nervous system: a case report.

The Pan African medical journal
2023

[FALSE POSITIVE 5-ALA INDUCED FLUORESCENCE OF HEMATOLOGICAL MALIGNANCIES, BENIGN TUMORS, INFECTIOUS AND INFLAMMATORY PATHOLOGIES PRESENTED AS BRAIN LESIONS - A CASE SERIES].

Harefuah
2023

Development of DNA aptamers for visualization of glial brain tumors and detection of circulating tumor cells.

Molecular therapy. Nucleic acids
2023

Intracerebral de novo arterio-venous malformations as a side effect of bevacizumab.

Journal of oncology pharmacy practice : official publication of the International Society of Oncology Pharmacy Practitioners
2023

Role of cyclin D1 in glial tumors-A retrospective and observational study.

Indian journal of pathology &amp; microbiology
2023

The effects of radiotherapy on arterial diameters in patients with high-grade glial tumors who have undergone adjuvant radiotherapy.

Nigerian journal of clinical practice
2023

Surgical approach to the treatment of pituicytoma. Report of five cases and a literature review.

World neurosurgery: X
2023

An enduring debate on gliomatosis cerebri.

Brain tumor pathology
2023

The Current State of Adult Glial Tumor Patients' Care in Kazakhstan: Challenges in Diagnosis and Patterns in Survival Outcomes.

Biomedicines
2023

Multimodal imaging in a case of bilateral astrocytic hamartoma with retinitis pigmentosa.

GMS ophthalmology cases
2023

Posterior Fossa Dysembryoplastic Neuroepithelial Tumor: A Neuropathological Report.

Cureus
2023

Hemorrhagic presentation of previously silent brain tumors.

Neurocirugia
2023

Risk for hydrocephalus, hygroma, and tumor dissemination after ventricular opening during resection of supratentorial neoplasms in children.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
2023

The Role of Cellular Prion Protein in Glioma Tumorigenesis Could Be through the Autophagic Mechanisms: A Narrative Review.

International journal of molecular sciences
2022

Growth Hormone Replacement Therapy Seems to Be Safe in Children with Low-Grade Midline Glioma: A Series of 124 Cases with Review of the Literature.

Cancers
2022

Diffuse reflectance spectroscopy sensor to differentiate between glial tumor and healthy brain tissue: a proof-of-concept study.

Biomedical optics express
2022

Case report: Spinal drop metastasis of IDH-mutant, 1p/19q-codeleted oligodendroglioma.

Frontiers in neurology
2022

Cerebral developmental venous anomalies in children with mismatch repair deficiency.

The Turkish journal of pediatrics
2022

Glutathione and Its Metabolic Enzymes in Gliomal Tumor Tissue and the Peritumoral Zone at Different Degrees of Anaplasia.

Current issues in molecular biology
2022

Mapping the functional expression of auxiliary subunits of KCa1.1 in glioblastoma.

Scientific reports
2023

Incorporation of a Disposable ESI Emitter into Inline Cartridge Extraction Mass Spectrometry Improves Throughput and Spectra Stability.

Journal of the American Society for Mass Spectrometry
2022

Diffuse Leptomeningeal Glioneuronal Tumor: A Rare Case Report with Review of Literature.

Asian journal of neurosurgery
2022

Epilepsy treatment in neuro-oncology: A rationale for drug choice in common clinical scenarios.

Frontiers in pharmacology
2022

The complex interactions between the cellular and non-cellular components of the brain tumor microenvironmental landscape and their therapeutic implications.

Frontiers in oncology
2022

Prospects for the use of blood elemental status to assess the molecular genetic profile of gliomas.

Klinicheskaia laboratornaia diagnostika
2022

A pediatric bithalamic high grade glioma with concomitant H3K27M and EGFR mutations.

The Turkish journal of pediatrics
2022

Pituicytoma: A rare case report of sellar and suprasellar tumor.

International journal of surgery case reports
2022

Atypical clinical presentation of glioblastoma mimicking autoimmune meningitis in an adult.

Folia neuropathologica
2021

Papillary glioneuronal tumor growing slowly for 26 years: illustrative case.

Journal of neurosurgery. Case lessons
2022

Single-Cell RNA Sequencing Unravels Upregulation of Immune Cell Crosstalk in Relapsed Pediatric Ependymoma.

Frontiers in immunology
2022

The Use of Pro-Angiogenic and/or Pro-Hypoxic miRNAs as Tools to Monitor Patients with Diffuse Gliomas.

International journal of molecular sciences
2022

The road-map for establishment of a prognostic molecular marker panel in glioma using liquid biopsy: current status and future directions.

Clinical &amp; translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico
2022

Diffuse Intrinsic Pontine Glioma: Molecular Landscape, Evolving Treatment Strategies and Emerging Clinical Trials.

Journal of personalized medicine
2022

Myriad Presentations of Intracranial Meningiomas: Pictoral Essay.

Journal of the Belgian Society of Radiology
2022

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

Indian journal of pathology &amp; microbiology
2022

β-Catenin marks proliferating endothelial cells in glioblastoma.

Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia
2022

Follow-Up of High-Grade Glial Tumor; Differentiation of Posttreatment Enhancement and Tumoral Enhancement by DCE-MR Perfusion.

Contrast media &amp; molecular imaging
2022

Clinicoradiological and histopathological characteristics and treatment outcomes of cerebral astroblastoma in children: a single-institution experience.

Journal of neurosurgery. Pediatrics
2022

Advantages and drawbacks of dexamethasone in glioblastoma multiforme.

Critical reviews in oncology/hematology
2022

Hybrid [18F]-F-DOPA PET/MRI Interpretation Criteria and Scores for Glioma Follow-up After Radiotherapy.

Clinical neuroradiology
2022

Prediction of Postoperative Speech Dysfunction Based on Cortico-Cortical Evoked Potentials and Machine Learning.

Studies in health technology and informatics
2022

Analysis of Factors Affecting 5-ALA Fluorescence Intensity in Visualizing Glial Tumor Cells-Literature Review.

International journal of molecular sciences
2022

Expression of glutamate carboxypeptidase II in the glial tumor recurrence evaluated in vivo using radionuclide imaging.

Scientific reports
2022

Frequent FGFR1 hotspot alterations in driver-unknown low-grade glioma and mixed neuronal-glial tumors.

Journal of cancer research and clinical oncology
2022

Diffuse leptomeningeal glioneuronal tumor without KIAA1549-BRAF fusion and 1p detection: a case report and review of literature.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
2021

Primal-dual for classification with rejection (PD-CR): a novel method for classification and feature selection-an application in metabolomics studies.

BMC bioinformatics
2021

Transmembrane Protein TMEM230, a Target of Glioblastoma Therapy.

Frontiers in cellular neuroscience
2021

The Inhibitory Effects of Terminalia catappa L. Extract on the Migration and Invasion of Human Glioblastoma Multiforme Cells.

Pharmaceuticals (Basel, Switzerland)
2021

Evaluation of progesterone receptor expression in low- and high-grade astrocytomas.

Revista da Associacao Medica Brasileira (1992)
2022

Neuroimaging of astroblastomas: A case series and systematic review.

Journal of neuroimaging : official journal of the American Society of Neuroimaging
2022

A review on epidermal growth factor receptor's role in breast and non-small cell lung cancer.

Chemico-biological interactions
2021

Berberine Photo-Activation Potentiates Cytotoxicity in Human Astrocytoma Cells through Apoptosis Induction.

Journal of personalized medicine
2021

Tanycytic ependymoma: highlighting challenges in radio-pathological diagnosis.

Indian journal of pathology &amp; microbiology
2021

Genome editing of Nf1, Pten, and Trp53 in neonatal mice induces glioblastomas positive for oligodendrocyte lineage transcription factor 2.

Journal of toxicologic pathology
2021

Predictors of mortality and tumor recurrence in desmoplastic infantile ganglioglioma and astrocytoma-and individual participant data meta-analysis (IPDMA).

Journal of neuro-oncology
2021

Ependymosarcoma harboring C11orf95:RELA fusion transcript: Report of two cases and review of the literature.

Neuropathology : official journal of the Japanese Society of Neuropathology
2021

Multiprong control of glioblastoma multiforme invasiveness: blockade of pro-inflammatory signaling, anti-angiogenesis, and homeostasis restoration.

Cancer metastasis reviews
2021

Ganglioside Composition Distinguishes Anaplastic Ganglioglioma Tumor Tissue from Peritumoral Brain Tissue: Complementary Mass Spectrometry and Thin-Layer Chromatography Evidence.

International journal of molecular sciences
2021

Analyses of DNA Methylation Profiling in the Diagnosis of Intramedullary Astrocytomas.

Journal of neuropathology and experimental neurology
2021

C-methionine-PET-guided Gamma Knife radiosurgery boost as adjuvant treatment for newly diagnosed glioblastomas.

Surgical neurology international
2021

A Rare Case of a High-Grade Astroblastoma with 5-Year Follow-up.

Asian journal of neurosurgery
2021

Clinical features, radiological profiles, pathological features and surgical outcomes of pituicytomas: a report of 11 cases and a pooled analysis of individual patient data.

Military Medical Research
2021

C4-T3 Replacement Laminoplasty and Microsurgical Resection of Ependymoma: 2-Dimensional Operative Video.

Operative neurosurgery (Hagerstown, Md.)
2021

Epidemiology and Survival of Patients With Brainstem Gliomas: A Population-Based Study Using the SEER Database.

Frontiers in oncology
2021

Nimotuzumab therapy in the treatment of pediatric central nervous system tumors: single-center experience.

Naunyn-Schmiedeberg's archives of pharmacology
2021

Blood-Based Biomarkers for Glioma in the Context of Gliomagenesis: A Systematic Review.

Frontiers in oncology
2021

Subcutaneous Sacro Coccygeal Myxopapillary Ependymoma: A Case Report and a Comprehensive Review of the Literature Reappraising Its Current Diagnostic Approach and Management.

Cureus
2021

A Systematic Review of Glioblastoma-Targeted Therapies in Phases II, III, IV Clinical Trials.

Cancers
2021

Successful treatment of an adult patient with diffuse midline glioma employing olaparib combined with bevacizumab.

Investigational new drugs
2021

Rapid estimation of tumor cell percentage in brain tissue biopsy samples using inline cartridge extraction mass spectrometry.

Analytical and bioanalytical chemistry
2021

[Histomolecular diagnosis of glial and glioneuronal tumours].

Annales de pathologie
2021

Classification of neoplastic and inflammatory brain disease using MRI texture analysis in 119 dogs.

Veterinary radiology &amp; ultrasound : the official journal of the American College of Veterinary Radiology and the International Veterinary Radiology Association
2021

A Simple Panel of IDH1 and P53 in Differential Diagnosis Between Low-Grade Astrocytoma and Reactive Gliosis.

Clinical pathology (Thousand Oaks, Ventura County, Calif.)
2021

Functional connectivity of the default mode, dorsal attention and fronto-parietal executive control networks in glial tumor patients.

Journal of neuro-oncology
2021

Gliomatosis Cerebri Growth Pattern: Association of Differential First-Line Treatment with Overall Survival in WHO Grade II and III Gliomas.

Oncology
2021

Glioblastoma with a primitive neuroectodermal component: two cases with implications for glioblastoma cell-of-origin.

Clinical imaging
2020

[Features of the neuroradiological picture of ganglioglioma on the example of 20 clinical cases].

Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova
2020

Profiling of inhibitory immune checkpoints in glioblastoma: Potential pathogenetic players.

Oncology letters
2020

Molecular Features and Prognostic Factors of Pleomorphic Xanthoastrocytoma: A Collaborative Investigation of the Tohoku Brain Tumor Study Group.

Neurologia medico-chirurgica
2020

The Botanical Drug PBI-05204, a Supercritical CO2 Extract of Nerium Oleander, Inhibits Growth of Human Glioblastoma, Reduces Akt/mTOR Activities, and Modulates GSC Cell-Renewal Properties.

Frontiers in pharmacology
2020

A 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 Neuropathology
2020

Multinodular and vacuolating neuronal tumor of the cerebrum: Two cases and review of the literature.

Clinical neurology and neurosurgery
2020

Multiple retinal astrocytic hamartomas in siblings with lebers congenital amaurosis: a case series and review of literature.

BMC ophthalmology
2020

Elevated plasma 20S proteasome chymotrypsin-like activity is correlated with IL-8 levels and associated with an increased risk of death in glial brain tumor patients.

PloS one
2020

Proteoglycans as Therapeutic Targets in Brain Cancer.

Frontiers in oncology
2020

Comparative cerebrospinal fluid metabolites profiling in glioma patients to predict malignant transformation and leptomeningeal metastasis with a potential for preventive personalized medicine.

The EPMA journal
2020

Clinical, radiological and molecular characterization of intramedullary astrocytomas.

Acta neuropathologica communications
2020

68Ga PSMA PET/MR in the differentiation of low and high grade gliomas: Is 68Ga PSMA PET/MRI useful to detect brain gliomas?

European journal of radiology
2020

Anaplastic Astrocytoma: State of the art and future directions.

Critical reviews in oncology/hematology
2020

Leukemia-Associated Rho Guanine Nucleotide Exchange Factor and Ras Homolog Family Member C Play a Role in Glioblastoma Cell Invasion and Resistance.

The American journal of pathology
2020

NCI-CONNECT: Comprehensive Oncology Network Evaluating Rare CNS Tumors-Histone Mutated Midline Glioma Workshop Proceedings.

Neuro-oncology advances
2020

Symptomatic cerebral vasospasm in the setting of carmustine wafer placement for glioblastoma: A case presentation and review of literature.

Surgical neurology international
2020

TROY signals through JAK1-STAT3 to promote glioblastoma cell migration and resistance.

Neoplasia (New York, N.Y.)
2020

Intraoperative MRI guidance for right deep fronto-temporal glioma resection: how I do it.

Acta neurochirurgica
2020

Caprylic (Octanoic) Acid as a Potential Fatty Acid Chemotherapeutic for Glioblastoma.

Prostaglandins, leukotrienes, and essential fatty acids
2020

Investigation of the Effects of MicroRNA-221 Expression Levels in Glioblastoma Multiforme Tumors.

Anticancer research
2020

COVID-19-Associated Encephalitis Mimicking Glial Tumor.

World neurosurgery
2020

Irisin, an exercise myokine, potently suppresses tumor proliferation, invasion, and growth in glioma.

FASEB journal : official publication of the Federation of American Societies for Experimental Biology
2020

Diffuse midline glioma of the cervical spinal cord with H3 K27M genotype phenotypically mimicking anaplastic ganglioglioma: a case report and review of the literature.

Brain tumor pathology
2020

Glucosinolates and phenolic compounds rich broccoli extract: Encapsulation by electrospraying and antitumor activity against glial tumor cells.

Colloids and surfaces. B, Biointerfaces
2020

Pediatric Lymphoma and Solid Tumors Associated With Cancer Susceptibility Syndromes.

Journal of pediatric hematology/oncology
2020

Development of a Rapid and Sensitive IDH1/2 Mutation Detection Method for Glial Tumors and a Comparative Mutation Analysis of 236 Glial Tumor Samples.

Molecular diagnosis &amp; therapy
2020

High expression of estrogen receptor alpha and aromatase in glial tumor cells is associated with gender-independent survival benefits in glioblastoma patients.

Journal of neuro-oncology
2020

The role of diffusion tractography in refining glial tumor resection.

Brain structure &amp; function
2020

[Recurrent High-grade Astroblastoma Treated with Stereotactic Radiotherapy:A Case Report].

No shinkei geka. Neurological surgery
2020

Comparison of Immunogenetic Properties of Glial Tumors with Advanced Magnetic Resonance Imaging Findings.

Turkish neurosurgery
2020

Angiocentric glioma: Drop Metastases to the Spinal Cord.

World neurosurgery
2020

Malignant transformation of pleomorphic xanthoastrocytoma and differential diagnosis: case report.

BMC neurology
2020

Increased Twist and ZEB2 expression in a cutaneous metastasis of high-grade glioma.

Neuropathology : official journal of the Japanese Society of Neuropathology
2019

Recurrent Extradural Myxopapillary Ependymoma With Oligometastatic Spread.

Frontiers in oncology
2019

[Pseudo-tumor form of neuro-Behçet disease: case study and literature review].

The Pan African medical journal
2019

A rare case of intracranial extra-axial ependymoma.

Ultrastructural pathology
2020

The correlation of fractional anisotropy parameters with Ki-67 index, and the clinical implication in grading of non-enhancing gliomas and neuronal-glial tumors.

Magnetic resonance imaging
2019

Demography, Pattern of Care, and Survival in Patients with Xanthoastrocytoma: A Systematic Review and Individual Patient Data Analysis of 325 Cases.

Journal of neurosciences in rural practice
2019

Tivantinib Hampers the Proliferation of Glioblastoma Cells via PI3K/Akt/Mammalian Target of Rapamycin (mTOR) Signaling.

Medical science monitor : international medical journal of experimental and clinical research
2019

Diagnostic value of fusion of metabolic and structural images for stereotactic biopsy of brain tumors without enhancement after contrast medium injection.

Neuro-Chirurgie
2020

Perinatal complex low- and high-grade glial tumor harboring a novel GIGYF2-ALK fusion.

Pediatric blood &amp; cancer
2019

A Novel Highly Selective Cannabinoid CB2 Agonist Reduces in vitro Growth and TGF-beta Release of Human Glial Cell Tumors.

Central nervous system agents in medicinal chemistry
2019

Evaluation of Diffusion Anisotropy and Diffusion Shape in Grading of Glial Tumors.

Journal of biomedical physics &amp; engineering

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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. 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· PMID 41203136mais citado
  2. Innovative aptamer approaches in glial tumor diagnostics and therapy: Progress and future directions.
    Molecular therapy. Nucleic acids· 2025· PMID 41245487mais citado
  3. Environmental Hazards and Glial Brain Tumors: Association or Causation?
    International journal of molecular sciences· 2025· PMID 40806554mais citado
  4. Glial Tumor Metastasizing to Bone Marrow: A Rare Journey.
    Indian journal of hematology &amp; blood transfusion : an official journal of Indian Society of Hematology and Blood Transfusion· 2025· PMID 40687464mais citado
  5. Glioma mimicking a cystic infectious disease: A case report of multifocal, multicentric cystic glioblastoma.
    Surgical neurology international· 2025· PMID 40656497mais citado
  6. A Misleading Cystic Brain Lesion: An Uncommon Presentation of Meningioma.
    Cureus· 2026· PMID 41952931recente
  7. Protein Expression Status of HTR4 and PDE4D Genes in Glial Brain Tumors Followed by the Study of Genomic Instability.
    Life (Basel)· 2026· PMID 41900893recente
  8. [Topic modeling of literature in glioma radiomics].
    Zh Vopr Neirokhir Im N N Burdenko· 2025· PMID 41527800recente
  9. A PET-CT study of the uptake of labeled aptamers [(18)F]FB-Gol1 and [(18)F]FB-GR20 in rat 101.8 glioblastoma model.
    Front Oncol· 2025· PMID 41473440recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:182067(Orphanet)
  2. MONDO:0021042(MONDO)
  3. GARD:6513(GARD (NIH))
  4. Variantes catalogadas(ClinVar)
  5. Busca completa no PubMed(PubMed)
  6. Artigo Wikipedia(Wikipedia)
  7. Q1365309(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

Glioma
Compêndio · Raras BR

Glioma

ORPHA:182067 · MONDO:0021042
Prevalência
1-5 / 10 000
Ensaios
18 ativos
Prevalência
26.0 (Europe)
MedGen
UMLS
C0017638
EuropePMC
Wikidata
Wikipedia
Papers 10a
DiscussaoAtiva

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