Sistema de Salut de Catalunya
[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
Departament de Salut
2020-02-26T10:56:00Z
2020-02-26T10:56:00Z
2019-08-02
SEGA; TOSCA; Tuberous sclerosis complex
SEGA; TOSCA; Complex d’esclerosi tuberosa
SEGA; TOSCA; Complejo de esclerosis tuberosa
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.
The study was funded by Novartis Pharma AG.
Article
Published version
English
Esclerosi tuberosa; Astrocitomes; Adults; DISEASES::Nervous System Diseases::Nervous System Diseases::Nervous System Diseases::Neurodegenerative Diseases::Heredodegenerative Disorders, Nervous System::Tuberous Sclerosis; DISEASES::Neoplasms::Neoplasms by Histologic Type::Neoplasms, Germ Cell and Embryonal::Neuroectodermal Tumors::Neoplasms, Neuroepithelial::Glioma::Astrocytoma; NAMED GROUPS::Persons::Age Groups::Adult; ENFERMEDADES::enfermedades del sistema nervioso::enfermedades del sistema nervioso::enfermedades del sistema nervioso::enfermedades neurodegenerativas::trastornos heredodegenerativos del sistema nervioso::esclerosis tuberosa; ENFERMEDADES::neoplasias::neoplasias por tipo histológico::neoplasias de células germinales y embrionarias::tumores neuroectodérmicos::neoplasias neuroepiteliales::glioma::astrocitoma; DENOMINACIONES DE GRUPOS::personas::Grupos de Edad::adulto
Frontiers Media
Frontiers in Neurology;10
https://www.frontiersin.org/articles/10.3389/fneur.2019.00821/full
Attribution 4.0 International
http://creativecommons.org/licenses/by/4.0/
Articles científics - HVH [3440]
