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.
Introdução
O que você precisa saber de cara
Tumor cerebral raro, geralmente benigno, originado nas paredes dos ventrículos. Caracteriza-se por células semelhantes a astrocitos com núcleos grandes e citoplasma abundante. Frequentemente associado à esclerose tuberosa.
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Nenhum gene associado encontrado
Os dados genéticos desta condição ainda estão sendo catalogados.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Astrocitoma subependimário de células gigantes
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Publicações mais relevantes
Malignant Progression of Subependymal Giant Cell Astrocytoma-Imitating Fibrous Meningioma in a Child Carrying a Germline <italic>CHEK2</italic> Mutation.
The subependymal giant cell astrocytoma (SEGA) predominantly occurs in patients with tuberous sclerosis. Here, we present an unusual aggressive transformation of SEGA-imitating fibrous meningioma in a child carrying a germline CHEK2 mutation. This case study was conducted at a tertiary pediatric oncology center in accordance with current diagnostic and therapeutic standards. Tumor classification followed WHO CNS5 criteria and was complemented by genome-wide DNA methylation profiling. Comprehensive molecular workup included germline and somatic whole exome sequencing, copy number analysis, and RNA sequencing. An 8.5-year-old girl presented with an intraventricular tumor initially diagnosed as SEGA based on imaging and partial resection histology. Treatment with an mTOR inhibitor led to 4 years of stability before rapid progression and death due to postoperative brain edema. Re-examination of both specimens revealed transformation into an aggressive anaplastic meningioma, while the initial lesion was reclassified as fibrous meningioma. Whole exome and microarray analyses excluded germline TSC1/TSC2 defects but identified a pathogenic germline CHEK2 variant (c.1466del, p.Asn489ThrfsTer23). Somatic alterations involving NF1 and TP53 were found in the primary tumor. Constitutional CHEK2 mutations combined with somatic NF1 defect may have promoted the malignant progression of SEGA-imitating fibrous meningioma and its favorable initial response to mTOR inhibitors.
Impact of prenatal sirolimus on cardiac rhabdomyomas and brain tubers.
To document the natural progression of fetal cardiac rhabdomyomas and evaluate the impact of prenatal sirolimus (PNS) on tumor size, cardiac complications and brain-tuber size. This was a single-center retrospective cohort study of pregnancies with suspected fetal cardiac rhabdomyoma referred to our center from April 2013 to May 2024. Serial ultrasound and echocardiography reports were reviewed to obtain tumor characteristics, such as diameter and location, and cardiac complications, including inflow or outflow obstruction, arrhythmia and hydrops. The tumor-to-femur length (TFL) ratio was calculated to correct for fetal growth. Prenatal neurosonography reports were collected from clinical records. Pre- and postnatal brain magnetic resonance imaging (MRI) scans were reviewed by two observers who were blinded to PNS treatment. Brain-lesion severity was assessed based on the presence of subependymal nodules, the EPISTOP score, the maximum diameter of the largest subcortical tuber, the maximum diameter of the largest subependymal giant cell astrocytoma (SEGA) and the diameter of the largest lateral ventricle. Prenatal or postnatal genetic testing results were documented when available. Twenty-seven pregnancies were included in the study, seven of which received PNS. Prior to initiation of treatment, the diameter of the largest cardiac tumor at diagnosis was similar between the non-PNS and PNS groups (mean, 15.2 mm vs 14.3 mm; P = 0.72), with the left ventricle the most frequently affected location. Without treatment, rhabdomyomas grew rapidly from 20 + 0 to 27 + 6 weeks' gestation (mean, 2.58 mm/week) but growth slowed after 28 weeks (mean, 0.44 mm/week). Hydrops was reported in four cases and occurred at a mean tumor diameter of 31.7 ± 6.2 mm, mean TFL ratio of 0.68 ± 0.15 and at a mean growth rate of 4.3 ± 1.7 mm/week. In the seven women treated with PNS, treatment for > 7 days (n = 3) resulted in tumor regression and/or resolution of outflow obstruction, and a reduction in TFL ratio; however, prenatal cessation of treatment resulted in rebound growth (n = 2). Treatment for ≤ 7 days (n = 4) did not impact tumor size or resolve existing cardiac complications. Among the 12 cases that underwent prenatal MRI, the median EPISTOP score was 7 (interquartile range (IQR), 1-15) and the median largest lateral ventricle diameter was 8.9 (IQR, 7.0-9.7) mm; subcortical tubers and subependymal nodules were each identified in 67% of cases, and SEGAs were identified in 58%. Among the 13 cases that underwent postnatal MRI, the median EPISTOP score was 14 (IQR, 3-16) and the median largest lateral ventricle diameter was 7 (IQR, 7-8) mm; brain tubers were identified in 92% of cases. In cases with both pre- and postnatal MRI findings who received PNS for > 7 days (n = 3), on postnatal MRI compared with prenatal MRI, one patient showed no change in findings, one demonstrated a mild increase in the largest subcortical tuber diameter and one had no detectable brain tubers. Early and sustained PNS treatment was associated with reduced cardiac rhabdomyoma size and/or resolution of cardiac complications. Rebound tumor growth was observed after discontinuation of treatment. Brain tubers appeared unchanged with PNS treatment, although the sample size was too small to draw a definitive conclusion. © 2026 The Author(s). Ultrasound in Obstetrics & Gynecology published by John Wiley & Sons Ltd on behalf of International Society of Ultrasound in Obstetrics and Gynecology.
A rare early-onset bilateral renal cysts, focal seizures in a 1-year-old male with tuberous sclerosis and No mutation identified.
Tuberous Sclerosis Complex (TSC) is a rare genetic disorder characterized by the development of benign tumors in multiple organs. This report presents an unusual case of early-onset renal cystic disease in a 1-year-old male with TSC, despite the absence of detectable mutations in the TSC1 or TSC2 genes. Postnatal imaging revealed bilateral polycystic kidney disease by 2 months of age. The patient presented with secondary hypertension and seizures. Neuroimaging confirmed cortical tubers and a subependymal giant cell astrocytoma (SEGA), while echocardiography identified cardiac rhabdomyomas. Despite these clinical findings, genetic testing failed to detect mutations in the TSC1 or TSC2 genes. This case highlights the importance of considering TSC as a potential diagnosis in cases of early-onset renal cystic disease, even in the absence of detectable TSC gene mutations. Additionally, the case emphasizes the risk of severe renal involvement in TSC, necessitating early recognition and management.
Clinical profiles of tuberous sclerosis complex: A regionally based survey.
This study aimed to clarify the clinical profiles of patients with tuberous sclerosis complex (TSC) in the general population by a regionally based survey of medical facilities in a region with 7.5 million residents, and investigate differences in clinical profiles according to medical facility size and type. A survey was sent to 146 hospitals and clinics regarding clinical profiles of patients with TSC who lived in Aichi Prefecture, Japan, between 2013 and 2018. Medical facilities were classified as large hospitals (≥750 beds or a children's hospital), small hospitals (<750 beds), institutions for handicapped children, and private clinics. Information was obtained of 232 patients (median age, 25 years; range, 1-81 years). Estimated prevalence of TSC was 3.1 per 100,000. Cortical tubers were present in 88 %, epilepsy in 81 %, autism spectrum disorder in 44 %, and subependymal giant cell astrocytoma in 17 %. Hypomelanotic macules, facial angiofibroma, renal angiomyolipoma, and cardiac rhabdomyoma were present in >50 % of patients. Rates of epilepsy with frequent seizures and autism spectrum disorder were both higher in patients in institutions for handicapped children. In more than half of patients in institutions for handicapped children information on cranial MRI findings was not obtained. Our regionally based study confirmed the clinical profiles previously reported in specialized hospitals for TSC and found that clinical characteristics differed among the types and sizes of medical facilities. Multicenter information sharing and collaboration between general hospitals and institutions for handicapped children are important for the comprehensive care of patients with TSC.
Successful resection of large subependymal giant cell astrocytoma using presurgical mammalian target of rapamycin inhibitor.
A subependymal giant cell astrocytoma (SEGA) grows slowly near the foramen of Monro and develops in tuberous sclerosis complex patients. Large SEGA resection has a high risk of hemorrhage, resulting in irreversible sequelae. Mammalian target of rapamycin (mTOR) inhibitor has been approved for the treatment of SEGA which cannot be curatively treated surgically. An 8-year-old boy was found to have two nodules beside bilateral ventricles. After the interruption of regular examination, he was transported to the hospital with seizure, headache, and visual impairment caused by hydrocephalus. Computed tomography (CT) scan revealed two masses: one at each the left (60 × 50 × 60 mm) and right (20 × 10 × 10 mm) ventricles. An emergency ventricular outside shunt was placed, but reduction surgery could not be performed. Everolimus at 3 mg/m2 was orally administered as preoperative therapy. A reduction in tumor size was observed 2 months after everolimus initiation. Reduction surgery for the right-sided tumor was performed after discontinuation of the drug. The tumor at the left septum lucidum and caudate nucleus remained. Everolimus was administered again for residual tumor growth. After a series of surgeries, complete resection of both tumors was performed eventually. This report shows preoperative treatment using mTOR inhibitor to be an effective strategy for unresectable large SEGA.
Publicações recentes
[Features of brain involvement in tuberous sclerosis patients in the Republic of Bashkortostan].
Microsurgical Resection of Subependymal Giant Cell Astrocytoma: Single-Center Retrospective Analysis and Meta-Analysis.
Comparative Evaluation of CT and MRI in Detecting Intracranial and Extracranial Manifestations of Tuberous Sclerosis Complex.
Clinical profiles of tuberous sclerosis complex: A regionally based survey.
Impact of prenatal sirolimus on cardiac rhabdomyomas and brain tubers.
📚 EuropePMC232 artigos no totalmostrando 197
Clinical profiles of tuberous sclerosis complex: A regionally based survey.
Brain & developmentImpact of prenatal sirolimus on cardiac rhabdomyomas and brain tubers.
Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and GynecologyMalignant Progression of Subependymal Giant Cell Astrocytoma-Imitating Fibrous Meningioma in a Child Carrying a Germline <italic>CHEK2</italic> Mutation.
Pathobiology : journal of immunopathology, molecular and cellular biologyA rare early-onset bilateral renal cysts, focal seizures in a 1-year-old male with tuberous sclerosis and No mutation identified.
Oxford medical case reportsThe Fourth Ventricle, A Rare Location for Subependymal Giant Cell Astrocytoma (SEGA): A Rare Case Report.
Clinical case reportsStereotactic radiosurgery for subependymal giant cell astrocytoma: Multi-institutional retrospective analysis of clinical and radiological outcomes.
Neurosurgical reviewTrifluoperazine, an Antipsychotic Drug, Inhibits Viability of Cells Derived From SEGA and Cortical Tubers Cultured In Vitro.
Journal of neurochemistrySuccessful resection of large subependymal giant cell astrocytoma using presurgical mammalian target of rapamycin inhibitor.
Surgical neurology internationalFast-Sequence Limited Magnetic Resonance Imaging Brain Protocol for Surveillance for Subependymal Lesions and Associated Hydrocephalus in Pediatric Tuberous Sclerosis Complex.
Pediatric neurologySubependymal giant cell astrocytoma in the absence of tuberous sclerosis complex: illustrative case.
Journal of neurosurgery. Case lessonsA bitopic mTORC inhibitor reverses phenotypes in a tuberous sclerosis complex model.
Scientific reportsClinical Implications of Solitary Subependymal Giant Cell Astrocytoma in the Absence of Tuberous Sclerosis Complex: Case Series and Comprehensive Literature Review.
Journal of pediatric hematology/oncologyTransplacental sirolimus: a new treatment strategy for life-threatening fetal cardiac rhabdomyomas-a case report.
Orphanet journal of rare diseasesGlycoprotein nonmetastatic melanoma protein b immunohistochemistry can be a useful ancillary tool to diagnose subependymal giant cell astrocytoma.
Virchows Archiv : an international journal of pathologyLong-Term Efficacy and Safety of Mammalian Target of Rapamycin Inhibitor Treatment for Subependymal Giant Cell Astrocytoma in Tuberous Sclerosis.
Pediatric neurologyUnusual case: Late diagnosis of tuberous sclerosis complex in a 59-year-old woman associated with extended fibrous dysplasia in craniofacial bones and spine.
Radiology case reportsStereotactic laser ablation for pediatric central nervous system tumors: a systematic review and meta-analysis of the literature.
Journal of neurosurgery. PediatricsEpilepsy in patients with pediatric brain tumors: Etiology, treatment & management.
Seminars in pediatric neurologyNeuro-Ophthalmic Characteristics of Patients with Tuberous Sclerosis Complex at a Tertiary Care Referral Centre.
Neuro-ophthalmology (Aeolus Press)Treating subependymal giant cell astrocytoma in patients with tuberous sclerosis complex: an update of the literature.
Expert review of neurotherapeuticsSurgical treatment of subependymal giant cell astrocytoma in patients with tuberous sclerosis complex-an institutional experience and results.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryClinical Manifestations and Treatments of Patients With Tuberous Sclerosis With Subependymal Giant Cell Astrocytoma.
Pediatric neurologySubependymal Giant Cell Astrocytoma in an Adult without Tuberous Sclerosis: Systematic Review and Illustrative Case Example.
Journal of neurological surgery reportsPhenotypic clustering in tuberous sclerosis complex reveals four distinct disease trajectories.
Brain : a journal of neurologyGPNMB expression differentiates subependymal giant cell astrocytoma from other mimickers.
Annals of diagnostic pathologyA case of subependymal giant cell astrocytoma.
Asian journal of surgeryCentral nervous system manifestations of tuberous sclerosis complex: A single centre experience in Qatar.
Saudi medical journalSolitary subependymal giant cell astrocytoma lacking TSC1/2 mutations and TTF-1 expression: A potential diagnostic pitfall.
Neuropathology : official journal of the Japanese Society of NeuropathologyEverolimus on cystic kidney disease burden reduction in pediatric tuberous sclerosis complex patients: a case series.
BMC nephrologyTTF-1 immunohistochemistry in primary CNS tumors: A systematic review.
Clinical neuropathologySubependymal Giant Cell Astrocytoma: The Molecular Landscape and Treatment Advances.
CancersResponsive neurostimulation of the frontal lobe for the detection and treatment of seizures in intractable epilepsy due to tuberous sclerosis complex: illustrative case.
Journal of neurosurgery. Case lessonsThe Clinicopathological Features of the Solitary Subependymal Giant Cell Astrocytoma: A Systematic Review.
Neurology IndiaComplex Factors in Hydrocephalus Development in Tuberous Sclerosis Complex: A Case Report of Subependymal Giant Cell Astrocytoma.
CureusRevealing subependymal giant cell astrocytoma with multimodal positron emission tomography: illustrative cases.
Journal of neurosurgery. Case lessonsRadiotherapy for subependymal giant cell astrocytoma: time to challenge a historical ban? A case report and review of the literature.
Journal of medical case reportsExudative Retinal Astrocytic Hamartomas and Papilledema in a Patient with Tuberous Sclerosis Complex and Subependymal Giant Cell Astrocytoma: A Case Report.
Korean journal of ophthalmology : KJOSporadic subependymal giant cell astrocytoma with somatic TSC2 mutation: A case report.
Neurosciences (Riyadh, Saudi Arabia)Giant Retinal Astrocytoma: A Case Report of an Uncommon Presentation of Tuberous Sclerosis in a Young Female.
Case reports in neurological medicineChallenges of siblings with tuberous sclerosis showing various manifestations and severe complications.
Radiology case reportsPediatric-Like Brain Tumors in Adults.
Advances and technical standards in neurosurgeryBleeding solitary SEGA in non-tuberous sclerosis complex adolescent: a case illustration and review of literature.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryAn atypical presentation of retinal astrocytic hamartoma with co-occurring SEGA in a tuberous sclerosis patient.
Radiology case reportsDiagnostic utility of genetic alterations in distinguishing IDH-wildtype glioblastoma from lower-grade gliomas: Insight from next-generation sequencing analysis of 479 cases.
Brain pathology (Zurich, Switzerland)A rare case of subependymal giant cell astrocytoma presenting with spontaneous intratumoral hemorrhage.
Journal of cancer research and therapeuticsEffectiveness and safety of everolimus treatment in patients with tuberous sclerosis complex in real-world clinical practice.
Orphanet journal of rare diseasesNeoadjuvant Therapy with Everolimus for Subependymal Giant Cell Astrocytoma: A Case Report.
NMC case report journalSubependymal Giant Cell Astrocytoma Tumors in Patients Without Clinical Manifestation of Tuberous Sclerosis Complex: A Diagnostic Puzzle.
Pediatric neurologyLaser interstitial thermal therapy compared with open resection for treating subependymal giant cell astrocytoma.
Journal of neurosurgery. PediatricsSEGA-like circumscribed astrocytoma in a non-NF1 patient, harboring molecular profile of GBM. A case report.
Neuropathology : official journal of the Japanese Society of NeuropathologyAn updated meta-analysis of effectiveness and safety of mTOR inhibitors in the management of tuberous sclerosis complex patients.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryAdverse Events of Everolimus in Patients with Tuberous Sclerosis Complex Treated for Renal Angiomyolipoma/Subependymal Giant Cell Astrocytoma.
International journal of medical sciences[Circumscribed Astrocytic Gliomas].
No shinkei geka. Neurological surgeryCytological features of diffuse and circumscribed gliomas.
Cytopathology : official journal of the British Society for Clinical CytologyIsolated subependymal giant cell astrocytoma (SEGA) in the absence of clinical tuberous sclerosis: two case reports and literature review.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryThree-Year Follow-Up after Intrauterine mTOR Inhibitor Administration for Fetus with TSC-Associated Rhabdomyoma.
International journal of molecular sciencesRapamycin and rapalogs for tuberous sclerosis complex.
The Cochrane database of systematic reviewsSubependymal Giant Cell Astrocytoma Non-Associated With Tuberous Sclerosis Complex and Expression of OCT-4 and INI-1: A Case Report.
CureusSubependymal giant cell astrocytoma in the absence of tuberous sclerosis: illustrative case.
Journal of neurosurgery. Case lessonsSubependymal giant-cell astrocytomas in the absence of tuberous sclerosis.
Journal of neurosurgery. PediatricsA Comparison of Clinical Outcomes for Subependymal Giant Cell Astrocytomas Treated with Laser Interstitial Thermal Therapy, Open Surgical Resection, and mTOR Inhibitors.
Pediatric neurosurgeryFetal neurosonography as accurate tool for diagnosis of brain involvement in tuberous sclerosis.
Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and GynecologyPathogenic RHEB Somatic Variant in a Child With Tuberous Sclerosis Complex Without Pathogenic Variants in TSC1 or TSC2.
NeurologySubependymal Giant Cell Astrocytoma Apoplexy: A Case Report and Systematic Review.
CureusEnhancing the Reliability of Intraoperative Ultrasound in Pediatric Space-Occupying Brain Lesions.
Diagnostics (Basel, Switzerland)TSC2/PKD1 contiguous deletion syndrome in a pregnant woman: A case report.
Frontiers in medicineRecent management trends of subependymal giant cell astrocytoma associated with tuberous sclerosis complex.
JPMA. The Journal of the Pakistan Medical AssociationSubependymal Giant Cell Astrocytomas in Tuberous Sclerosis Complex-Current Views on Their Pathogenesis and Management.
Journal of clinical medicineCase report: 'Photodynamics of Subependymal Giant Cell Astrocytoma with 5-Aminolevulinic acid'.
Frontiers in surgeryLate Manifestation of Subependymal Giant Cell Astrocytoma With Hydrocephalus in an Adult Patient With Tuberous Sclerosis Complex.
CureusBrachial and subclavian arteries aneurysms due to tuberous sclerosis complex mechanisms - case report and literature review.
Romanian journal of morphology and embryology = Revue roumaine de morphologie et embryologie[Tuberous sclerosis complex: diagnosis and current treatment].
MedicinaTherapeutic effect of everolimus on small renal angiomyolipoma in cases of tuberous sclerosis complex-related epilepsy and subependymal giant cell astrocytoma.
Asian journal of surgerySubependymal giant-cell astrocytoma: A surgical review in the modern era of mTOR inhibitors.
Neuro-ChirurgieResection of brain lesions with a neuroendoscopic ultrasonic aspirator - a systematic literature review.
Neurosurgical reviewCircumscribed astrocytic gliomas: Contribution of molecular analyses to histopathology diagnosis in the WHO CNS5 classification.
Indian journal of pathology & microbiologyTuber Brain Proportion Determines Epilepsy Onset in Children With Tuberous Sclerosis Complex.
Pediatric neurologyInitial experience with magnetic resonance-guided focused ultrasound stereotactic surgery for central brain lesions in young adults.
Journal of neurosurgery[Subependymal Giant Cell Astrocytoma with Tuberous Sclerosis Complex(TSC-SEGA)].
No shinkei geka. Neurological surgeryAssociation of Early MRI Characteristics With Subsequent Epilepsy and Neurodevelopmental Outcomes in Children With Tuberous Sclerosis Complex.
NeurologyMechanistic Target of Rapamycin (mTOR) Inhibitors.
Handbook of experimental pharmacologyTTF-1: A Well-Favored Addition to the Immunohistochemistry Armamentarium as a Diagnostic Marker of SEGA.
World neurosurgeryNeurosurgical Considerations of Neurocutaneous Syndromes.
Neurosurgery clinics of North AmericaThe Effect of Everolimus on Subependymal Giant Cell Astrocytoma (SEGA) in Children with Tuberous Sclerosis Complex.
Iranian journal of child neurologyMissed tuberous sclerosis complex with multi-system complications in a single patient.
Radiology case reportsTSC2 somatic mosaic mutation, including extra-tumor tissue, may be the developmental cause of solitary subependymal giant cell astrocytoma.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryClinical trial challenges, design considerations, and outcome measures in rare CNS tumors.
Neuro-oncologyPrevalence of BRAFV600 in glioma and use of BRAF Inhibitors in patients with BRAFV600 mutation-positive glioma: systematic review.
Neuro-oncologyA Rare Case of Isolated Intraventricular Primary Central Nervous System Lymphoma in an 85-Year-Old Man.
Asian journal of neurosurgeryCytopathological and histopathological features of cerebral granular cell astrocytoma: A case report.
Cytopathology : official journal of the British Society for Clinical CytologyLong Term Outcome and Histologic Findings of a Retinal Astrocytic Hamartoma Treated with Intravitreal Injection of Anti-VEGF: A Case Report.
Case reports in ophthalmological medicineStory of the solitary subependymal giant cell astrocytoma: A case report and literature review.
Clinical neuropathologyAn Israeli tuberous sclerosis cohort: the efficacy of different anti-epileptic strategies.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryA multistep approach to the genotype-phenotype analysis of Polish patients with tuberous sclerosis complex.
European journal of medical geneticsTSC1 Mosaicism Leading to Subependymal Giant Cell Astrocytoma but Not Tuberous Sclerosis Complex.
Pediatric neurologyEfficacy, Retention and Tolerability of Everolimus in Patients with Tuberous Sclerosis Complex: A Survey-Based Study on Patients' Perspectives.
CNS drugsHemorrhage Into a Subependymal Giant Cell Astrocytoma in an Adult With Tuberous Sclerosis: Case Report.
The neurologistDirect and indirect costs and cost-driving factors in adults with tuberous sclerosis complex: a multicenter cohort study and a review of the literature.
Orphanet journal of rare diseasesDiabetes in Individuals With Tuberous Sclerosis Complex Treated With mTOR Inhibitors.
Pediatric neurologyThe Characterization of a Subependymal Giant Astrocytoma-Like Cell Line from Murine Astrocyte with mTORC1 Hyperactivation.
International journal of molecular sciencesMaintenance Therapy With Everolimus for Subependymal Giant Cell Astrocytoma in Patients With Tuberous Sclerosis - Final Results From the EMINENTS Study.
Frontiers in neurologyInnumerable Meningiomas Arising in a Patient With Tuberous Sclerosis Complex Decades After Radiation Therapy.
Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology SocietyBilateral Renal Angiomyolipomas and Subependymal Giant Cell Astrocytoma Associated with Tuberous Sclerosis Complex: a Case Report and Review of The Literature.
Balkan journal of medical genetics : BJMGExperience using mTOR inhibitors for subependymal giant cell astrocytoma in tuberous sclerosis complex at a single facility.
BMC neurologyThe clinical and paraclinical manifestations of tuberous sclerosis complex in children.
Acta neurologica BelgicaTuberous Sclerosis: A Case Report and Review of the Literature.
CureusSolitary subependymal giant cell astrocytoma: Case report and review of the literature.
Journal of clinical neuroscience : official journal of the Neurosurgical Society of AustralasiaEffect of everolimus on multifocal micronodular pneumocyte hyperplasia in tuberous sclerosis complex.
Respiratory medicine case reportsFamilial Nervous System Tumor Syndromes.
Continuum (Minneapolis, Minn.)A solitary extraventricular subependymal giant cell astrocytoma in the absence of tuberous sclerosis.
Radiology case reportsIsolated cortical tuber in an infant with genetically confirmed tuberous sclerosis complex 1 presenting with symptomatic West syndrome.
Neuropathology : official journal of the Japanese Society of NeuropathologySubependymal Giant Cell Astrocytoma in a 79-Year-Old Woman without Clinical Features of Tuberous Sclerosis: A Case Report.
Journal of neuropathology and experimental neurologyThe Efficacy of Everolimus for Facial Angiofibromas in Tuberous Sclerosis Complex Patients Treated for Renal Angiomyolipoma/Subependymal Giant Cell Astrocytoma.
Dermatology (Basel, Switzerland)A case of subependymal giant cell astrocytoma without tuberous sclerosis complex and review of the literature.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryThe Neurodevelopmental Pathogenesis of Tuberous Sclerosis Complex (TSC).
Frontiers in neuroanatomyA case of solitary subependymal giant cell astrocytoma with histopathological anaplasia and TSC2 gene alteration.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryMagnetic resonance imaging diagnosis of subependymal giant cell astrocytomas in follow-up of children with tuberous sclerosis complex: should we always use contrast enhancement?
Pediatric radiologySubependymal Giant-cell Astrocytoma Masquerading as Restrictive Eating Disorder and Depression in an Adolescent.
Innovations in clinical neuroscienceJuvenile xanthogranuloma as a new type of skin lesions in tuberous sclerosis complex.
Orphanet journal of rare diseasesNeuroimaging in tuberous sclerosis complex.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryDysregulation of the MMP/TIMP Proteolytic System in Subependymal Giant Cell Astrocytomas in Patients With Tuberous Sclerosis Complex: Modulation of MMP by MicroRNA-320d In Vitro.
Journal of neuropathology and experimental neurologyStereotactic laser ablation for subependymal giant cell astrocytomas: personal experience and review of the literature.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryTSC2 pathogenic variants are predictive of severe clinical manifestations in TSC infants: results of the EPISTOP study.
Genetics in medicine : official journal of the American College of Medical GeneticsPediatric Low-Grade Gliomas.
CancersPharmacological treatment strategies for subependymal giant cell astrocytoma (SEGA).
Expert opinion on pharmacotherapyThe effect of mTOR inhibition on obstructive hydrocephalus in patients with tuberous sclerosis complex (TSC) related subependymal giant cell astrocytoma (SEGA).
Journal of neuro-oncologyFetal subependymal giant cell astrocytoma: A case report and review of the literature.
Surgical neurology internationalIdentification of TSC1 or TSC2 mutation limited to the tumor in three cases of solitary subependymal giant cell astrocytoma using next-generation sequencing technology.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryFreiburg Neuropathology Case Conference : Intraventricular Mass Lesion in a Child.
Clinical neuroradiologyInfantile atypical subependymal giant cell astrocytoma.
Neurosciences (Riyadh, Saudi Arabia)Laser interstitial thermal therapy for pediatric atypical teratoid/rhabdoid tumor: case report.
Neurosurgical focusNeurosurgical treatment of subependymal giant cell astrocytomas in tuberous sclerosis complex: a series of 44 surgical procedures in 31 patients.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryEpilepsy, impaired functioning, and quality of life in patients with tuberous sclerosis complex.
Epilepsia openTreatment Patterns and Use of Resources in Patients With Tuberous Sclerosis Complex: Insights From the TOSCA Registry.
Frontiers in neurologyEndoscopic Transforaminal Transchoroidal Approach to the Third Ventricle for Cystic and Solid Tumors.
World neurosurgeryNovel small molecule protein kinase CK2 inhibitors exert potent antitumor effects on T98G and SEGA cells in vitro.
Folia neuropathologicaSubependymal giant cell astrocytoma harboring a PRRC2B-ALK fusion: A case report.
Pediatric blood & cancerNeurological malignancies in neurofibromatosis type 1.
Current opinion in oncologyNewly Diagnosed and Growing Subependymal Giant Cell Astrocytoma in Adults With Tuberous Sclerosis Complex: Results From the International TOSCA Study.
Frontiers in neurologySubependymal Giant Cell Astrocytoma Size Measurement in Tuberous Sclerosis Complex: Noncontrast vs Contrast-Enhanced 3-Dimensional T1-Weighted Magnetic Resonance Imaging (MRI).
Journal of child neurologyClinical Characteristics of Subependymal Giant Cell Astrocytoma in Tuberous Sclerosis Complex.
Frontiers in neurologyMutations of the MAPK/TSC/mTOR pathway characterize periventricular glioblastoma with epithelioid SEGA-like morphology-morphological and therapeutic implications.
OncotargetSubependymal giant cell astrocytoma: an unexpected finding during a forensic autopsy.
Acta neurologica Belgica[The Efficacy of Everolimus for Refractory Seizures in Childhood Onset Epilepsy with Tuberous Sclerosis Complex].
Brain and nerve = Shinkei kenkyu no shinpoAn update on the central nervous system manifestations of tuberous sclerosis complex.
Acta neuropathologica[Ocular Phenotype and Complications in Patients with Tuberous Sclerosis Complex (TSC)].
Klinische Monatsblatter fur AugenheilkundeEfficacy and safety of mTOR inhibitors (rapamycin and its analogues) for tuberous sclerosis complex: a meta-analysis.
Orphanet journal of rare diseasesReliability of Imaging-Based Diagnosis of Lateral Ventricular Masses in Children.
World neurosurgeryEverolimus compliance and persistence among tuberous sclerosis complex patients with renal angiomyolipoma or subependymal giant cell astrocytoma.
Current medical research and opinionGlioblastoma in a patient with tuberous sclerosis.
Journal of clinical neuroscience : official journal of the Neurosurgical Society of AustralasiaThe level of microRNA 21 is upregulated by rapamycin in serum of tuberous sclerosis complex patients and subependymal giant cell astrocytoma (SEGA)-derived cell cultures.
Folia neuropathologicaLongitudinal Effects of Everolimus on White Matter Diffusion in Tuberous Sclerosis Complex.
Pediatric neurologySingle and staged laser interstitial thermal therapy ablation for cortical tubers causing refractory epilepsy in pediatric patients.
Neurosurgical focusDense array EEG estimated the epileptic focus in a patient with epilepsy secondary to tuberous sclerosis complex.
Brain & developmentEffect of everolimus on renal function in patients with tuberous sclerosis complex: evidence from EXIST-1 and EXIST-2.
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal AssociationSubependymal giant cell astrocytoma-like astrocytoma: a neoplasm with a distinct phenotype and frequent neurofibromatosis type-1-association.
Modern pathology : an official journal of the United States and Canadian Academy of Pathology, IncSubependymal Giant Cell Astrocytoma: A Surveillance, Epidemiology, and End Results Program-Based Analysis from 2004 to 2013.
World neurosurgeryPotent Antitumour Effects of Novel Pentabromobenzylisothioureas Studied on Human Glial-derived Tumour Cell Lines.
Anticancer researchProgressive cystic lesion in a middle-aged patient with tuberous sclerosis complex: A case report.
MedicineEffect of everolimus on skin lesions in patients treated for subependymal giant cell astrocytoma and renal angiomyolipoma: final 4-year results from the randomized EXIST-1 and EXIST-2 studies.
Journal of the European Academy of Dermatology and Venereology : JEADVAtypical subependymal giant cell astrocytoma and neonatal tuberous sclerosis.
NeurologyCD99: A potential Diagnostic Marker for Differentiating Sub-ependymal Giant Cell Astrocytoma From Other Mimickers: A Report of Five Cases.
Iranian journal of pathologyTrapped ventricle after laser ablation of a subependymal giant cell astrocytoma complicated by intraventricular gadolinium extravasation: case report.
Journal of neurosurgery. PediatricsDeep phenotyping of patients with Tuberous Sclerosis Complex and no mutation identified in TSC1 and TSC2.
European journal of medical geneticsEfficacy and safety of everolimus in patients younger than 12 months with congenital subependymal giant cell astrocytoma.
Brain & development[Hemangioma arising in subependymal giant cell astrocytoma: report of a case].
Zhonghua bing li xue za zhi = Chinese journal of pathologyRetinal astrocytoma regression in tuberous sclerosis patients treated with everolimus.
Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and StrabismusDifferent MRI-defined tuber types in tuberous sclerosis complex: Quantitative evaluation and association with disease manifestations.
Brain & developmentSubependymal Giant Cell Astrocytoma: Associated Hyperproteinorrhachia Causing Shunt Failures and Nonobstructive Hydrocephalus - Report of Successful Treatment with Long-term Follow-up.
Asian journal of neurosurgeryPooled analysis of menstrual irregularities from three major clinical studies evaluating everolimus for the treatment of tuberous sclerosis complex.
PloS oneThe effect of everolimus on renal angiomyolipoma in pediatric patients with tuberous sclerosis being treated for subependymal giant cell astrocytoma.
Pediatric nephrology (Berlin, Germany)Dramatic relapse of seizures after everolimus withdrawal.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology SocietyPresurgical Administration of mTOR Inhibitors in Patients with Large Subependymal Giant Cell Astrocytoma Associated with Tuberous Sclerosis Complex.
World neurosurgeryImplementing a Multidisciplinary Approach to Treating Tuberous Sclerosis Complex: A Case Report.
Child neurology openEverolimus long-term use in patients with tuberous sclerosis complex: Four-year update of the EXIST-2 study.
PloS onePilocytic astrocytoma: A rare presentation as intraventricular tumor.
Surgical neurology internationalCharacterization of gliomas: from morphology to molecules.
Virchows Archiv : an international journal of pathologyImprovement in Renal Cystic Disease of Tuberous Sclerosis Complex After Treatment with Mammalian Target of Rapamycin Inhibitor.
The Journal of pediatricsSubependymal Giant Cell Astrocytoma Presenting with Tumoral Bleeding: A Case Report.
Brain tumor research and treatmentAcute Management of Symptomatic Subependymal Giant Cell Astrocytoma With Everolimus.
Pediatric neurologySome characteristics of gliomas managed at a Neurosurgery centre in Nigeria.
The Nigerian postgraduate medical journal[Hemorrhagic Onset of Subependymal Giant Cell Astrocytoma Associated with Tuberous Sclerosis:A Case Report and Review of Literature].
No shinkei geka. Neurological surgery[Hereditary tumor syndromes in neuropathology].
Der PathologeAssessment of tumors in children with tuberous sclerosis: a single centre's experience.
Turk pediatri arsiviTreatment of Renal Angiomyolipoma and Other Hamartomas in Patients with Tuberous Sclerosis Complex.
Clinical journal of the American Society of Nephrology : CJASNAstrocytic tumor with large cells and worrisome features in two patients with tuberous sclerosis: drastically different diagnoses and prognoses.
Clinical neuropathologyRisk factors for the development of autism spectrum disorder in children with tuberous sclerosis complex: protocol for a systematic review.
Systematic reviewsClinicopathological features and microsurgical outcomes for giant pediatric intracranial tumor in 60 consecutive cases.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryInitial experience with endoscopic ultrasonic aspirator in purely neuroendoscopic removal of intraventricular tumors.
Journal of neurosurgery. PediatricsUnique findings of subependymal giant cell astrocytoma within cortical tubers in patients with tuberous sclerosis complex: a histopathological evaluation.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryTuberOus SClerosis registry to increase disease Awareness (TOSCA) - baseline data on 2093 patients.
Orphanet journal of rare diseasesCauses of mortality in individuals with tuberous sclerosis complex.
Developmental medicine and child neurologyThyroid transcription factor-1 distinguishes subependymal giant cell astrocytoma from its mimics and supports its cell origin from the progenitor cells in the medial ganglionic eminence.
Modern pathology : an official journal of the United States and Canadian Academy of Pathology, IncMaintenance therapy with everolimus for subependymal giant cell astrocytoma in patients with tuberous sclerosis (the EMINENTS study).
Pediatric blood & cancerEfficacy and safety of Everolimus in children with TSC - associated epilepsy - Pilot data from an open single-center prospective study.
Orphanet journal of rare diseases[Tuberous sclerosis with infantile spasm and subependymal giant cell astrocytoma].
No to hattatsu = Brain and developmentPerinatal (fetal and neonatal) astrocytoma: a review.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryAssociações
Organizações que acompanham esta doença — pra ter apoio e orientação
Ainda não temos associações cadastradas para Astrocitoma subependimário de células gigantes.
É de uma associação que acompanha esta doença? Fale com a gente →
Comunidades
Grupos ativos de quem convive com esta doença aqui no Raras
Ainda não existe comunidade no Raras para Astrocitoma subependimário de células gigantes
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Ainda não achamos doenças com sintomas parecidos o suficiente.
Referências e fontes
Bases de dados externas citadas neste artigo
Publicações científicas
Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.
- Malignant Progression of Subependymal Giant Cell Astrocytoma-Imitating Fibrous Meningioma in a Child Carrying a Germline <italic>CHEK2</italic> Mutation.Pathobiology : journal of immunopathology, molecular and cellular biology· 2026· PMID 41591989mais citado
- Impact of prenatal sirolimus on cardiac rhabdomyomas and brain tubers.Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology· 2026· PMID 41674351mais citado
- A rare early-onset bilateral renal cysts, focal seizures in a 1-year-old male with tuberous sclerosis and No mutation identified.
- Clinical profiles of tuberous sclerosis complex: A regionally based survey.
- Successful resection of large subependymal giant cell astrocytoma using presurgical mammalian target of rapamycin inhibitor.
- [Features of brain involvement in tuberous sclerosis patients in the Republic of Bashkortostan].
- Microsurgical Resection of Subependymal Giant Cell Astrocytoma: Single-Center Retrospective Analysis and Meta-Analysis.
- Comparative Evaluation of CT and MRI in Detecting Intracranial and Extracranial Manifestations of Tuberous Sclerosis Complex.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:251618(Orphanet)
- MONDO:0016693(MONDO)
- GARD:10632(GARD (NIH))
- Busca completa no PubMed(PubMed)
- Q122222(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
