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Astrocitoma de baixo grau
ORPHA:251592DOENÇA RARA

Astrocitoma são tumores (neoplasia) do sistema nervoso central (SNC) originados de um astrócito, uma célula em forma de estrela que sustenta os neurônios. É o tipo de glioma mais comum e podem ser benignos ou malignos. Quanto menor o grau, mais tempo de sobrevida, que pode ultrapassar 10 anos ou serem menor a 1 ano. Afetam 5 em cada 100.000 pessoas.

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Introdução

O que você precisa saber de cara

📋

Astrocitoma de baixo grau é um tumor cerebral raro que pode causar sintomas como cefaleia, déficits visuais e hormonais (prolactina elevada, hipopituitarismo, hipogonadismo, hipotireoidismo). Pode afetar a memória e a função sexual, com mutações em genes como BRAF e IDH2.

Pesquisas ativas
3 ensaios
11 total registrados no ClinicalTrials.gov
Publicações científicas
693 artigos
Último publicado: 2026 Mar 1
Medicamentos
9 registrados
PEGINTERFERON ALFA-2B, ETOPOSIDE, DOXORUBICIN

Tem tratamento?

9 medicamentos registrados
Ver detalhes, fases e interações →
PEGINTERFERON ALFA-2BETOPOSIDEDOXORUBICINEVEROLIMUSSELUMETINIBPIMASERTIBTOVORAFENIBTEMSIROLIMUSERLOTINIB
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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

📏
Crescimento
8 sintomas
👁️
Olhos
1 sintomas

+ 11 sintomas em outras categorias

Características mais comuns

Aumento da concentração circulante de prolactina
Resposta diminuída ao teste de estímulo do hormônio do crescimento
Comprometimento da memória
Anormalidade do nível circulante de adrenocorticotropina
Impotência
Hipopituitarismo
20sintomas
Sem dados (20)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 20 características clínicas mais associadas, ordenadas por frequência.

Aumento da concentração circulante de prolactinaIncreased circulating prolactin concentration
Resposta diminuída ao teste de estímulo do hormônio do crescimentoDecreased response to growth hormone stimulation test
Comprometimento da memóriaMemory impairment
Anormalidade do nível circulante de adrenocorticotropinaAbnormality of circulating adrenocorticotropin level
ImpotênciaImpotence

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Total histórico693PubMed
Últimos 10 anos160publicações
Pico201523 papers
Linha do tempo
2026Hoje · 2026🧪 1989Primeiro ensaio clínico📈 2015Ano 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

8 genes identificados com associação a esta condição.

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
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
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
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
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
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
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

Medicamentos e terapias

PEGINTERFERON ALFA-2BPhase 2

Mecanismo: Interferon alpha/beta receptor agonist

ETOPOSIDEPhase 2

Mecanismo: DNA topoisomerase II inhibitor

DOXORUBICINPhase 2

Mecanismo: DNA topoisomerase II alpha inhibitor

EVEROLIMUSPhase 2

Mecanismo: FK506-binding protein 1A inhibitor

SELUMETINIBPhase 1

Mecanismo: Dual specificity mitogen-activated protein kinase kinase; MEK1/2 inhibitor

PIMASERTIBPhase 1

Mecanismo: Dual specificity mitogen-activated protein kinase kinase 2 inhibitor

TOVORAFENIBPhase 1

Mecanismo: RAF serine/threonine protein kinase inhibitor

TEMSIROLIMUSPhase 1

Mecanismo: FK506-binding protein 1A inhibitor

ERLOTINIBPhase 1

Mecanismo: Epidermal growth factor receptor erbB1 inhibitor

Ver mais no OpenTargets

Variantes genéticas (ClinVar)

644 variantes patogênicas registradas no ClinVar.

🧬 FGFR1: NM_023110.3(FGFR1):c.2156T>C (p.Met719Thr) ()
🧬 FGFR1: NM_023110.3(FGFR1):c.570del (p.Trp190fs) ()
🧬 FGFR1: NM_023110.3(FGFR1):c.74del (p.Pro25fs) ()
🧬 FGFR1: NM_023110.3(FGFR1):c.494del (p.Leu165fs) ()
🧬 FGFR1: NM_023110.3(FGFR1):c.831dup (p.Lys278Ter) ()
Ver todas no ClinVar

Vias biológicas (Reactome)

87 vias biológicas associadas aos genes desta condição.

Inactivation of CDC42 and RAC1 CDC42 GTPase cycle RAC1 GTPase cycle Stimuli-sensing channels Rap1 signalling GP1b-IX-V activation signalling CD209 (DC-SIGN) signaling 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 Transcriptional activation of mitochondrial biogenesis Citric acid cycle (TCA cycle) Mitochondrial protein degradation Maturation of TCA enzymes and regulation of TCA cycle SOS-mediated signalling Activation of RAS in B cells Constitutive Signaling by Ligand-Responsive EGFR Cancer Variants SHC1 events in ERBB2 signaling SHC1 events in ERBB4 signaling Signaling by SCF-KIT Signalling to RAS p38MAPK events GRB2 events in EGFR signaling SHC1 events in EGFR signaling Downstream signal transduction GRB2 events in ERBB2 signaling Tie2 Signaling EGFR Transactivation by Gastrin 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 Constitutive Signaling by EGFRvIII 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 Spry regulation of FGF signaling Frs2-mediated activation ARMS-mediated activation Signalling to p38 via RIT and RIN PIP3 activates AKT signaling NGF-independant TRKA activation Constitutive Signaling by Aberrant PI3K in Cancer PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling 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 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 Signal transduction by L1 Phospholipase C-mediated cascade: FGFR1 Downstream signaling of activated FGFR1 PI-3K cascade:FGFR1 Negative regulation of FGFR1 signaling Signaling by FGFR1 in disease RAF/MAP kinase cascade Signaling by plasma membrane FGFR1 fusions Epithelial-Mesenchymal Transition (EMT) during gastrulation Formation of paraxial mesoderm

Diagnóstico

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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.
3Fase 32
2Fase 26
1Fase 15
·Pré-clínico2
Medicamentos catalogadosEnsaios clínicos· 9 medicamentos · 6 ensaios
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Outros ensaios clínicos

11 ensaios clínicos encontrados, 3 ativos.

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Ver todos no ClinicalTrials.gov
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Publicações mais relevantes

Timeline de publicações
159 papers (10 anos)
#1

Circumscribed low-grade astrocytoma with a synchronous occipital lesion of uncertain pathology in an adolescent with T-cell lymphoblastic lymphoma.

BMJ case reports2026 Jan 07

Circumscribed astrocytic glioma, defined by the 2021 WHO Central Nervous System tumour classification, exhibits expansive growth patterns. Despite increasing molecular and histological data, their applicability to adolescents and young adults remains uncertain. Also, the coexistence of T-cell lymphoblastic lymphoma (T-LBL) and circumscribed astrocytic glioma is rare, and no established treatment protocols currently exist.A male in his late teens presented with T-LBL and concurrent intracranial masses in the left paracentral lobule and occipital lobe. Despite achieving a complete response for T-LBL with standard chemotherapy and transplantation, the intracranial lesion (paracentral lobule) progressed. Resection of the paracentral lesion revealed a circumscribed low-grade astrocytoma, not otherwise specified. At 1-year follow-up, without adjuvant therapy, no recurrence was observed and the residual occipital lesion decreased in size.Through interdepartmental collaboration, we achieved a favourable outcome, though the impact of T-LBL treatment on glioma remains unclear. Further studies are needed to establish optimal management for complex cases.

#2

Magnetic resonance imaging findings of dysembryoplastic neuroepithelial tumors and low-grade astrocytomas.

Journal of the Chinese Medical Association : JCMA2026 Mar 01

Dysembryoplastic neuroepithelial tumor (DNET) and low-grade astrocytoma (LGA) could present very similar magnetic resonance imaging (MRI) findings. DNET has good seizure control after surgical removal and low malignant potential, while LGA may recur or progress. This study was designed to obtain a more accurate pretreatment diagnosis of DNET and LGA based on MRI findings. We retrospectively enrolled patients with pathologically proven DNET and LGA from 2000 to 2024. Individual qualitative and quantitative MRI features were evaluated in both tumors, especially the T2-weighted signal intensity ratio (T2SR), which compared tumor T2-weighted signal with that of normal cerebral white matter. The diagnostic performance of conventional qualitative models, including meaningful qualitative MRI features and combined quantitative model, including T2SR and apparent diffusion coefficient (ADC) values, was evaluated using area under the curve (AUC). In total, 70 patients (30 DNET, 40 LGA) were included, with a mean age of 23.2 ± 11.3 (15-57) years, including 36 men (51.4%), 34 women (48.6%). For individual MRI features, DNET had more FLAIR (fluid attenuated inversion recovery) ring sign (16 [53.3%] vs 12 [30.0%], p = 0.049), higher ADC value (2076.2 [53.4] vs 1660.1 [71.9], p < 0.001), and higher T2SR (3.56 ± 0.12 vs 2.68 ± 0.63, p < 0.001). The AUC of the T2SR and ADC value was 0.886 (0.811-0.962) and 0.824 (0.724-0.924), respectively. The combined quantitative model had higher discriminative performance than the conventional qualitative model (AUC: 0.905 vs 0.727, p = 0.011). Our study suggested that quantitative MRI features, including T2SR and ADC values, enhanced the discrimination between DNET and LGA and could potentially serve as a complementary imaging marker for improving preoperative diagnostic accuracy.

#3

Spinal deformity following surgery for paediatric intramedullary spinal cord tumours.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery2026 Jan 17

Spinal deformity (SD) in children with intramedullary spinal cord tumours (IMSCT) can occur at presentation or postoperatively due to neurogenic and mechanical factors on a background of future spinal growth. Deformity is associated with pain, functional decline and reduced quality of life but spinal instrumentation can compromise MRI tumour surveillance. This study aims to identify risk factors for SD amongst children operated for low-grade IMSCT to identify any modifiable risk factors and help guide pre-operative counselling and surveillance. Cases of benign IMSCT in patients under 16 were identified from a prospectively collected institutional operative database. Review of electronic medical records was then undertaken for details of presenting symptoms, SD at diagnosis, histology, surgical approach (laminectomy/laminoplasty). High grade tumours and previously operated tumours were excluded. Outcome measures comprised spinal alignment at last follow-up and any additional interventions (bracing or surgery) to address deformity. Data was analysed using Excel and SPSS. 45 patients satisfied the inclusion criteria. Mean age at index surgery was 7.1 years, and at last follow up 13.8 years. At presentation, 38% had SD (N = 17/45), 11% torticollis (n = 5/45), 64% pain (n = 30/45) and 43% weakness (n = 19/45). Tumour location was thoracic (40%, n = 18/45)), cervicothoracic (33%, n = 14/45) and cervical (27%, n = 12/45). Tumour histology included low-grade astrocytoma (66%, n = 30/45), glioneuronal tumour (13%, n = 6/45), ependymoma (7%, n = 3/45), cavernoma (4%, n = 2/45), haemangioblastoma (2%, n = 2/45) and neuroenteric cyst (2%, n = 1/45), Laminoplasty was performed in all cases, 51% (n = 23/45) crossing a junctional level. Postoperative MRI confirmed total resection in 51% (n = 23/45). 43% received adjuvant therapy (n = 19/45). 85% (n = 38/45) wore a post-operative spinal orthosis for mean duration 5.27 months (range 1.5-36 months). Postoperative SD occurred in 69% (n = 31/45) of which 48% (n = 15/31) developed following surgery, typically within 2.6 years of follow up. 42% required further bracing (n = 19/45) and 31% underwent spinal fusion (n = 14/45) at an average of 5.5 years post-resection. Patients presenting with SD were significantly more likely to require spinal fusion (p =  < 0.01). Thoracic location and the presence of a syrinx were also risk factors for progressive SD. SD is common in children with low-grade IMSCT in children affecting one third at presentation and two thirds post-operatively with one third requiring spinal fusion for deformity correction. Risk factors include: SD at presentation, thoracic cord location and presence of syrinx.

#4

Comparative quantitative proteomics of tumoral and peritumoral tissues for distinguishing human glioblastoma from low-grade astrocytoma.

Journal of proteomics2026 Jan 06

Glioblastoma multiforme (GBM) and low-grade astrocytoma (LGA) are diffuse gliomas with distinct biological features and prognoses. However, the molecular mechanisms driving their differences are not fully understood. In this study, we performed a multi-dataset analysis integrating in-house quantitative proteomics data with high-quality external datasets to identify GBM-specific proteomic alterations between tumoral and peritumoral tissues relative to LGA. Our analysis revealed more pronounced proteomic differences between intra- and peritumoral tissues in GBM than in LGA. Proteins specifically dysregulated in GBM were predominantly linked to upregulated RNA splicing and spliceosome signaling. Through multi-dataset integration, we identified 73 GBM-specific upregulated proteins enriched in processes such as transcriptional regulation, hypoxia and necrosis, cytoskeleton organization, extracellular matrix remodeling, and immune response. Conversely, the 129 GBM-specific downregulated proteins were mainly involved in tumor suppression, G-protein signaling, calcium signaling, and neuronal gap junctions. Using these signature proteins, we developed a risk model based on CDK2, HDAC1, IGFBP2, SLC6A1, and TNR, which significantly predicted overall survival in glioma patients. This study delineates the proteomic landscape of GBM in comparison to LGA and offers a valuable resource for future mechanistic and clinical investigations. SIGNIFICANCE: Diffuse gliomas are a heterogeneous brain tumor that include both low-grade and high-grade variants, each characterized by distinct morphological and biological features. Glioblastoma multiforme (GBM) is the most common primary high-grade and malignant brain tumor, with a median survival of less than 15 months despite aggressive treatment, including surgery, radiotherapy, and chemotherapy. In contrast, low-grade astrocytoma (LGA) exhibits indolent growth and a less aggressive clinical course, resulting in significantly longer patient survival compared to GBM. The molecular mechanisms underlying the biological differences between LGA and GBM are incompletely understood, and there is an urgent need for new molecular biomarkers to enhance diagnosis and therapeutic options. In this study, we conducted a comprehensive multi-dataset analysis by integrating our in-house quantitative proteomics data with several high-quality external datasets. We analyzed tumor and peritumoral tissue samples from human GBM and LGA, and further identified the GBM-specifically regulated proteomic signatures and signaling pathways, which is crucial for understanding the molecular mechanisms driving the aggressive behavior of GBM and could serve as a foundation for developing novel diagnostic biomarkers and therapeutic targets. Future research should focus on validating these GBM-specific proteins in larger cohorts and exploring their functional roles in GBM progression. Additionally, integrating multi-omics data (e.g., genomics, transcriptomics, and metabolomics) with proteomics could provide a more comprehensive understanding of the molecular mechanisms underlying GBM.

#5

Long-Term Efficacy and Safety of Mammalian Target of Rapamycin Inhibitor Treatment for Subependymal Giant Cell Astrocytoma in Tuberous Sclerosis.

Pediatric neurology2025 Jul

Subependymal giant cell astrocytoma (SEGA) is a low-grade astrocytoma occurring in approximately 5%-20% of persons affected with tuberous sclerosis complex (TSC). Therapy options include surgical resection or medical treatment with mammalian target of rapamycin (mTOR) inhibitors ([mTORis] everolimus or sirolimus) to prevent further growth and neurosurgical interventions due to life-threatening hydrocephalus. Short-term follow-up of mTORi treatment has been described in earlier studies; however, data on long-term efficacy and safety are limited. Patients from SEGA studies at Cincinnati Children's Hospital Medical Center with ongoing care at our center and consented to ongoing retrospective records collection were included in the study. Data was compiled from medical records. Our cohort consisted of 25 patients with TSC. All but one were currently receiving mTORi treatment with either sirolimus (N = 4, 20%) or everolimus (N = 20, 80%) at the time of evaluation. Median mTORi treatment duration was 15.5 years (range: 9.8-16.8 years, interquartile range: 0.9 years). One patient underwent SEGA resection after starting mTORi. None required cerebrospinal fluid diversion. In 19 patients (76%), SEGA was stable or decreased over time. In six patients, it increased slightly from pretreatment baseline. Ongoing adverse drug reactions (ADR) at their last visit were reported in the medical record of eight patients (33%) with intermittent aphthous ulcers being the most frequent (N = 7). Long-term ADRs were observed in 17 patients (68%), including hypercholesterolemia (N = 10), diabetes mellitus type 2 (N = 6), prediabetes (N = 1), hypertension (N = 6), and osteoporosis (N = 3). Long-term TSC-associated SEGA treatment with mTORi is safe, effective and well tolerated. Knowledge of adverse reactions is important for successful long-term therapy.

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📚 EuropePMC132 artigos no totalmostrando 158

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BMJ case reports
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Long-Term Efficacy and Safety of Mammalian Target of Rapamycin Inhibitor Treatment for Subependymal Giant Cell Astrocytoma in Tuberous Sclerosis.

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2018

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Epilepsy research
2018

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Contrast media &amp; molecular imaging
2018

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Neuro-oncology practice
2018

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2018

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Neuroscience letters
2018

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Clinical neurology and neurosurgery
2018

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Clinical case reports
2018

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Radiology
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

Novel strategies of Raman imaging for brain tumor research.

Oncotarget
2018

Low-Grade Astrocytoma within a Mature Cystic Teratoma in an Adolescent Patient.

Journal of pediatric and adolescent gynecology
2017

Low-Grade Astrocytoma Mutations in IDH1, P53, and ATRX Cooperate to Block Differentiation of Human Neural Stem Cells via Repression of SOX2.

Cell reports
2017

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

Journal of Cancer
2017

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Oncotarget
2017

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Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
2017

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Der Radiologe
2018

Clinicopathological and imaging features of lipoastrocytoma: Case report.

The neuroradiology journal
2017

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

Asian Pacific journal of cancer prevention : APJCP
2017

Endoscopic Treatment of an Adult with Tegmental Astrocytoma Accompanied by Cerebrospinal Fluid Dissemination.

Journal of Korean Neurosurgical Society
2017

Segmentum: a tool for copy number analysis of cancer genomes.

BMC bioinformatics
2017

Label-free quantitative proteomics unravels the importance of RNA processing in glioma malignancy.

Neuroscience
2017

Low grade astrocytoma causing dural and calvarial destruction.

Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia
2018

Tumor Grade versus Expression of Invasion-Related Molecules in Astrocytoma.

Pathology oncology research : POR
2017

Endoscopic Reconstruction of CSF Pathways in Ventricular Tumors.

Acta neurochirurgica. Supplement
2017

A brain-penetrant RAF dimer antagonist for the noncanonical BRAF oncoprotein of pediatric low-grade astrocytomas.

Neuro-oncology
2016

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

PloS one
2016

Perinatal (fetal and neonatal) astrocytoma: a review.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
2017

Comprehensive proteome profiling of glioblastoma-derived extracellular vesicles identifies markers for more aggressive disease.

Journal of neuro-oncology
2016

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Neurosurgery
2017

Differentially Expressed Long Non-Coding RNAs Were Predicted to Be Involved in the Control of Signaling Pathways in Pediatric Astrocytoma.

Molecular neurobiology
2016

miRNA regulation of Sirtuin-1 expression in human astrocytoma.

Oncology letters
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

Rapid malignant transformation of low-grade astrocytoma in a pregnant woman.

The journal of obstetrics and gynaecology research
2016

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Journal of neuro-oncology
2017

Concurrent TERT promoter and BRAF V600E mutation in epithelioid glioblastoma and concomitant low-grade astrocytoma.

Neuropathology : official journal of the Japanese Society of Neuropathology
2015

IDH1 Mutation in Gliomas in Mosul City - Iraq.

Open access Macedonian journal of medical sciences
2016

Imaging of Brain Tumors with Copper-64 Chloride: Early Experience and Results.

Cancer biotherapy &amp; radiopharmaceuticals
2016

Clinical characteristics and late effects in CNS tumours of childhood: Do not forget long term follow-up of the low grade tumours.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
2016

Prognostic Value of ALDH1, EZH2 and Ki-67 in Astrocytic Gliomas.

Turk patoloji dergisi
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

Hemorrhagic presentations of cerebellar pilocytic astrocytomas in children resulting in death: report of 2 cases.

Journal of neurosurgery. Pediatrics
2015

Nuclear phosphorylated Y142 β-catenin accumulates in astrocytomas and glioblastomas and regulates cell invasion.

Cell cycle (Georgetown, Tex.)
2015

Concurrence of Fahr's disease and brain tumor: A case report and review of the literature.

Experimental and therapeutic medicine
2017

The visuospatial functions in children after cerebellar low-grade astrocytoma surgery: A contribution to the pediatric neuropsychology of the cerebellum.

Journal of neuropsychology
2015

Inhibition of SHP2-mediated dephosphorylation of Ras suppresses oncogenesis.

Nature communications
2016

Manganese superoxide dismutase (MnSOD) is a malignant astrocytoma specific biomarker and associated with adverse prognosis in p53 expressing glioblastoma.

Pathology, research and practice
2015

A case report on 1-year follow-up of bilateral thalamic glioma.

The neuroradiology journal
2016

Congenital glioneuronal tumor with neuropil-like islands.

Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia
2016

A case of an epithelioid glioblastoma with the BRAF V600E mutation colocalized with BRAF intact low-grade diffuse astrocytoma.

Neuropathology : official journal of the Japanese Society of Neuropathology
2015

Surgical approaches for brainstem tumors in pediatric patients.

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

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

PloS one
2016

Effects of Insula Resection on Autonomic Nervous System Activity.

Journal of neurosurgical anesthesiology
2015

Gamma Knife treatment of low-grade gliomas in children.

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

Endoscopic diagnosis of an MRI-occult, low-grade glioma with ependymal dissemination.

Journal of neurosurgery. Pediatrics
2015

Quantitative proteomic analysis shows differentially expressed HSPB1 in glioblastoma as a discriminating short from long survival factor and NOVA1 as a differentiation factor between low-grade astrocytoma and oligodendroglioma.

BMC cancer
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
2014

Incidentalomas to glioblastoma multiforme.

Oxford medical case reports
2015

Low grade astrocytoma in children under the age of three years: a report from the Canadian pediatric brain tumour consortium.

Journal of neuro-oncology
2015

Machine learning methods for the classification of gliomas: Initial results using features extracted from MR spectroscopy.

The neuroradiology journal
2015

Central nervous system tumors: Radiologic pathologic correlation and diagnostic approach.

Journal of neurosciences in rural practice
2015

Anaplastic ganglioglioma: a report of three cases and review of the literature.

Journal of neuro-oncology
2015

Evaluation of amygdala pathology using (11)C-methionine positron emission tomography/computed tomography in patients with temporal lobe epilepsy and amygdala enlargement.

Epilepsy research
2015

Growth-factor-driven rescue to receptor tyrosine kinase (RTK) inhibitors through Akt and Erk phosphorylation in pediatric low grade astrocytoma and ependymoma.

PloS one
2015

Biopsy of Brainstem Gliomas Using Flexible Endoscopes.

Journal of neurological surgery. Part A, Central European neurosurgery
2015

Non-Hodgkin lymphoma in pediatric patients with common variable immunodeficiency.

European journal of pediatrics
2015

Holocord low grade astrocytoma--Role of radical irradiation and chemotherapy.

Journal of the Egyptian National Cancer Institute
2015

Notch signaling activation in pediatric low-grade astrocytoma.

Journal of neuropathology and experimental neurology
2015

cAMP-Epac Pathway Stimulation Modulate Connexin-43 and MicroRNA-21 Expression in Glioma Cells.

Basic and clinical neuroscience

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Referências e fontes

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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. Circumscribed low-grade astrocytoma with a synchronous occipital lesion of uncertain pathology in an adolescent with T-cell lymphoblastic lymphoma.
    BMJ case reports· 2026· PMID 41500719mais citado
  2. Magnetic resonance imaging findings of dysembryoplastic neuroepithelial tumors and low-grade astrocytomas.
    Journal of the Chinese Medical Association : JCMA· 2026· PMID 41644502mais citado
  3. Spinal deformity following surgery for paediatric intramedullary spinal cord tumours.
    Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery· 2026· PMID 41546829mais citado
  4. Comparative quantitative proteomics of tumoral and peritumoral tissues for distinguishing human glioblastoma from low-grade astrocytoma.
    Journal of proteomics· 2026· PMID 41161534mais citado
  5. Long-Term Efficacy and Safety of Mammalian Target of Rapamycin Inhibitor Treatment for Subependymal Giant Cell Astrocytoma in Tuberous Sclerosis.
    Pediatric neurology· 2025· PMID 40393382mais citado
  6. Tumefactive Demyelinating Lesion Mimicking Low-Grade Astrocytoma with a T2/FLAIR Mismatch Sign: A Case Report and Review of the Literature.
    Diagnostics (Basel)· 2025· PMID 41464175recente
  7. Added value of sodium MRI in multiparametric MRI for WHO grade II astrocytoma surveillance during "watchful waiting": initial experience.
    Radiologie (Heidelb)· 2025· PMID 41222668recente

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Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:251592(Orphanet)
  2. MONDO:0016685(MONDO)
  3. GARD:20706(GARD (NIH))
  4. Variantes catalogadas(ClinVar)
  5. Busca completa no PubMed(PubMed)
  6. Q55786374(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.

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Astrocitoma de baixo grau

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