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Clinical Characteristics of Subependymal Giant Cell Astrocytoma in Tuberous Sclerosis Complex
- Source :
- Frontiers in Neurology, Vol 10 (2019), Frontiers in Neurology, Frontiers in Neurology, Frontiers, 2019, 10, pp.705. ⟨10.3389/fneur.2019.00705⟩, Frontiers in Neurology, 2019, 10, pp.705. ⟨10.3389/fneur.2019.00705⟩, Scientia, FRONTIERS IN NEUROLOGY
- Publication Year :
- 2019
- Publisher :
- Frontiers Media S.A., 2019.
-
Abstract
- SEGA; TOSCA; Tuberous sclerosis complex SEGA; TOSCA; Complejo de esclerosis tuberosa SEGA; TOSCA; Complex d'esclerosi tuberosa Background: This study evaluated the characteristics of subependymal giant cell astrocytoma (SEGA) in patients with tuberous sclerosis complex (TSC) entered into the TuberOus SClerosis registry to increase disease Awareness (TOSCA). Methods: The study was conducted at 170 sites across 31 countries. Data from patients of any age with a documented clinical visit for TSC in the 12 months preceding enrollment or those newly diagnosed with TSC were entered. Results: SEGA were reported in 554 of 2,216 patients (25%). Median age at diagnosis of SEGA was 8 years (range, 18 years. SEGA were symptomatic in 42.1% of patients. Symptoms included increased seizure frequency (15.8%), behavioural disturbance (11.9%), and regression/loss of cognitive skills (9.9%), in addition to those typically associated with increased intracranial pressure. SEGA were significantly more frequent in patients with TSC2 compared to TSC1 variants (33.7 vs. 13.2 %, p < 0.0001). Main treatment modalities included surgery (59.6%) and mammalian target of rapamycin (mTOR) inhibitors (49%). Conclusions: Although SEGA diagnosis and growth typically occurs during childhood, SEGA can occur and grow in both infants and adults. The study was funded by Novartis Pharma AG. Novartis has contributed to the study design, data analysis, and the decision to publish. Novartis authors reviewed the draft for submission.
- Subjects :
- Quinases
Pediatrics
enzimas y coenzimas::enzimas::transferasas::fosfotransferasas::fosfotransferasas (grupo alcohol aceptor)::proteína cinasas::proteína-serina-treonina cinasas::TOR serina-treonina cinasas [COMPUESTOS QUÍMICOS Y DROGAS]
Angiomyolipoma
Neurology
[SDV]Life Sciences [q-bio]
CHILDREN
tuberous sclerosis complex
registry
Neoplasms::Neoplasms by Histologic Type::Neoplasms::Neoplasms by Histologic Type::Neoplasms, Glandular and Epithelial::Neoplasms, Neuroepithelial::Glioma::Neoplasms::Neoplasms by Histologic Type::Astrocytoma [DISEASES]
SEGA
RECOMMENDATIONS
DISEASE
lcsh:RC346-429
Tuberous sclerosis
DOUBLE-BLIND
0302 clinical medicine
EVEROLIMUS
neoplasias::hamartoma::esclerosis tuberosa [ENFERMEDADES]
Medicine and Health Sciences
030212 general & internal medicine
Original Research
Intracranial pressure
Esclerosi tuberosa
3. Good health
medicine.anatomical_structure
mTOR
Astrocitomes
Life Sciences & Biomedicine
medicine.drug
medicine.medical_specialty
Clinical Neurology
DIAGNOSIS
03 medical and health sciences
medicine
MANAGEMENT
TOSCA
lcsh:Neurology. Diseases of the nervous system
Everolimus
Science & Technology
Subependymal giant cell astrocytoma
business.industry
ANGIOMYOLIPOMA
neoplasias::neoplasias por tipo histológico::neoplasias::neoplasias por tipo histológico::neoplasias glandulares y epiteliales::neoplasias neuroepiteliales::glioma::neoplasias::neoplasias por tipo histológico::astrocitoma [ENFERMEDADES]
Neurosciences
medicine.disease
SEVERITY
Enzymes and Coenzymes::Enzymes::Transferases::Phosphotransferases::Phosphotransferases (Alcohol Group Acceptor)::Protein Kinases::Protein-Serine-Threonine Kinases::TOR Serine-Threonine Kinases [CHEMICALS AND DRUGS]
Neurology (clinical)
TSC1
Neurosciences & Neurology
TSC2
business
030217 neurology & neurosurgery
Neoplasms::Hamartoma::Tuberous Sclerosis [DISEASES]
Subjects
Details
- Language :
- English
- ISSN :
- 16642295
- Volume :
- 10
- Database :
- OpenAIRE
- Journal :
- Frontiers in Neurology
- Accession number :
- edsair.doi.dedup.....8dc36d833c37cfffcfa9871566a98251