ArticleChild's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery2014
Congenital subependymal giant cell astrocytomas in patients with tuberous sclerosis complex.
Article in Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
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Who cites it
21 citing papers in PubMed, 56 citations in OpenAlex.
- Stereotactic radiosurgery for subependymal giant cell astrocytoma: Multi-institutional retrospective analysis of clinical and radiological outcomes.Neurosurgical review · 2025Article
- Review
- An overview of actionable and potentially actionable TSC1 and TSC2 germline variants in an online Database.Genetics and molecular biology · 2024Article
- Early Diagnosis of Tuberous Sclerosis Complex: Prenatal Diagnosis.AJNR. American journal of neuroradiology · 2023Article
- Subependymal Giant Cell Astrocytomas in Tuberous Sclerosis Complex-Current Views on Their Pathogenesis and Management.Journal of clinical medicine · 2023Review
- Nervous system (NS) Tumors in Cancer Predisposition Syndromes.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2022Review
- Tumor-related hydrocephalus in infants: a narrative review.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2021Review
- Targeted Therapies in Rare Brain Tumours.International journal of molecular sciences · 2021Review
- Congenital subpendymal giant cell astrocytoma in children with tuberous sclerosis complex: growth patterns and neurological outcome.Pediatric research · 2021Article
- Infantile Brain Tumors: A Review of Literature and Future Perspectives.Diagnostics (Basel, Switzerland) · 2021Review
- Experience using mTOR inhibitors for subependymal giant cell astrocytoma in tuberous sclerosis complex at a single facility.BMC neurology · 2021Observational
- Current trends in the management of subependymal giant cell astrocytomas in tuberous sclerosis.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2020Article
- The Neurodevelopmental Pathogenesis of Tuberous Sclerosis Complex (TSC).Frontiers in neuroanatomy · 2020Review
- Fetal subependymal giant cell astrocytoma: A case report and review of the literature.Surgical neurology international · 2020Article
- Infantile atypical subependymal giant cell astrocytoma.Neurosciences (Riyadh, Saudi Arabia) · 2020Article
- Tuberous sclerosis complex: new insights into clinical and therapeutic approach.Journal of nephrology · 2019Review
- Newly Diagnosed and Growing Subependymal Giant Cell Astrocytoma in Adults With Tuberous Sclerosis Complex: Results From the International TOSCA Study.Frontiers in neurology · 2019Article
- Chemical modulation of autophagy as an adjunct to chemotherapy in childhood and adolescent brain tumors.Oncotarget · 2018Review
- Perinatal (fetal and neonatal) astrocytoma: a review.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2016Review
- Is mTOR Inhibitor Good Enough for Treatment All Tumors in TSC Patients?Journal of Cancer · 2016Review
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Authors and funding
8 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeSubependymal giant cell astrocytoma (SEGA) is a brain tumor associated with tuberous sclerosis complex (TSC). It usually grows in a second decade of life, but may develop in the first months of life. The aim of this work was to establish the incidence, clinical features, and outcome of congenital SEGA in TSC patients.
methodsCohort of 452 TSC patients was reviewed to identify cases with growing or hydrocephalus producing SEGAs in the first 3 months of life. Clinical presentation, size of the tumor, growth rate, mutational analysis, treatment applied, and outcome were analyzed.
resultsTen (2.2 %) patients presented with SEGA in the first 3 months of life. All of them had documented SEGA growth and all developed hydrocephalus. In eight patients, mutational analysis was done, and in all of them, TSC2 gene mutations were identified. Mean maximum SEGA diameter at baseline was 21.8 mm. Mean SEGA growth rate observed postnatally was 2.78 mm per month and tended to be higher (5.43 mm per month) in patients with TSC2/PKD1 mutation than in other cases. Seven patients underwent SEGA surgery and surgery-related complications were observed in 57.1 % cases. One patient was successfully treated with everolimus as a primary treatment.
conclusionsCongenital SEGA develops 2.2 % of TSC patients. Patients with TSC2 mutations, and especially with TSC2/PKD1 mutations, are more prone to develop SEGA earlier in childhood and should be screened for SEGA from birth. In young infants with SEGA, both surgery and mTOR inhibitor should be considered as a treatment option.
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