dc.contributor
[Jansen AC] Pediatric Neurology Unit, Department of Pediatrics, UZ Brussel VUB, Brussels, Belgium. [Belousova E] Research and Clinical Institute of Pediatrics, Pirogov Russian National Research Medical University, Moscow, Russia. [Benedik MP] Child Neurology Department, SPS Pediatriêna Klinika, Ljubljana, Slovenia. [Carter T] Tuberous Sclerosis Association, Nottingham, United Kingdom. [Cottin V] Hôpital Louis Pradel, Claude Bernard University Lyon 1, Lyon, France. [Curatolo P] Child Neurology and Psychiatry Unit, Systems Medicine Department, Tor Vergata University Hospital, Rome, Italy. [Macaya A] Neurologia pediàtrica, Hospital Universitari Vall d’Hebron, Barcelona, Spain
dc.contributor
Departament de Salut
dc.contributor.author
Jansen, Anna C.
dc.contributor.author
Belousova, Elena
dc.contributor.author
Perkovic Benedik, Mirjana
dc.contributor.author
Carter, Tom
dc.contributor.author
Cottin, Vincent
dc.contributor.author
Curatolo, Paolo
dc.contributor.author
Macaya Ruíz, Alfons
dc.date.issued
2020-02-26T10:56:00Z
dc.date.issued
2020-02-26T10:56:00Z
dc.date.issued
2019-08-02
dc.identifier
Jansen AC, Belousova E, Benedik MP, Carter T, Cottin V, Curatolo P, et al. Newly diagnosed and growing subependymal giant cell astrocytoma in adults with tuberous sclerosis complex: results from the international TOSCA study. Front Neurol. 2019 Aug 2;10:821.
dc.identifier
https://hdl.handle.net/11351/4679
dc.identifier
10.3389/fneur.2019.00821
dc.identifier
000478639000001
dc.description.abstract
SEGA; TOSCA; Tuberous sclerosis complex
dc.description.abstract
SEGA; TOSCA; Complex d’esclerosi tuberosa
dc.description.abstract
SEGA; TOSCA; Complejo de esclerosis tuberosa
dc.description.abstract
The onset and growth of subependymal giant cell astrocytoma (SEGA) in tuberous sclerosis complex (TSC) typically occurs in childhood. There is minimal information on SEGA evolution in adults with TSC. Of 2,211 patients enrolled in TOSCA, 220 of the 803 adults (27.4%) ever had a SEGA. Of 186 patients with SEGA still ongoing in adulthood, 153 (82.3%) remained asymptomatic, and 33 (17.7%) were reported to ever have developed symptoms related to SEGA growth. SEGA growth since the previous scan was reported in 39 of the 186 adults (21%) with ongoing SEGA. All but one patient with growing SEGA had mutations in TSC2. Fourteen adults (2.4%) were newly diagnosed with SEGA during follow-up, and majority had mutations in TSC2. Our findings suggest that surveillance for new or growing SEGA is warranted also in adulthood, particularly in patients with mutations in TSC2.
dc.description.abstract
The study was funded by Novartis Pharma AG.
dc.format
application/pdf
dc.publisher
Frontiers Media
dc.relation
Frontiers in Neurology;10
dc.relation
https://www.frontiersin.org/articles/10.3389/fneur.2019.00821/full
dc.rights
Attribution 4.0 International
dc.rights
http://creativecommons.org/licenses/by/4.0/
dc.rights
info:eu-repo/semantics/openAccess
dc.subject
Esclerosi tuberosa
dc.subject
DISEASES::Nervous System Diseases::Nervous System Diseases::Nervous System Diseases::Neurodegenerative Diseases::Heredodegenerative Disorders, Nervous System::Tuberous Sclerosis
dc.subject
DISEASES::Neoplasms::Neoplasms by Histologic Type::Neoplasms, Germ Cell and Embryonal::Neuroectodermal Tumors::Neoplasms, Neuroepithelial::Glioma::Astrocytoma
dc.subject
NAMED GROUPS::Persons::Age Groups::Adult
dc.subject
ENFERMEDADES::enfermedades del sistema nervioso::enfermedades del sistema nervioso::enfermedades del sistema nervioso::enfermedades neurodegenerativas::trastornos heredodegenerativos del sistema nervioso::esclerosis tuberosa
dc.subject
ENFERMEDADES::neoplasias::neoplasias por tipo histológico::neoplasias de células germinales y embrionarias::tumores neuroectodérmicos::neoplasias neuroepiteliales::glioma::astrocitoma
dc.subject
DENOMINACIONES DE GRUPOS::personas::Grupos de Edad::adulto
dc.title
Newly diagnosed and growing subependymal giant cell astrocytoma in adults with tuberous sclerosis complex: results from the international TOSCA study
dc.type
info:eu-repo/semantics/article
dc.type
info:eu-repo/semantics/publishedVersion
