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Newly Diagnosed and Growing Subependymal Giant Cell Astrocytoma in Adults With Tuberous Sclerosis Complex: Results From the International TOSCA Study.

Jansen, AC; Belousova, E; Benedik, MP; Carter, T; Cottin, V; Curatolo, P; D'Amato, L; Beaure d'Augères, G; de Vries, PJ; Ferreira, JC; et al. Jansen, AC; Belousova, E; Benedik, MP; Carter, T; Cottin, V; Curatolo, P; D'Amato, L; Beaure d'Augères, G; de Vries, PJ; Ferreira, JC; Feucht, M; Fladrowski, C; Hertzberg, C; Jozwiak, S; Lawson, JA; Macaya, A; Marques, R; Nabbout, R; O'Callaghan, F; Qin, J; Sander, V; Sauter, M; Shah, S; Takahashi, Y; Touraine, R; Youroukos, S; Zonnenberg, B; Kingswood, JC (2019) Newly Diagnosed and Growing Subependymal Giant Cell Astrocytoma in Adults With Tuberous Sclerosis Complex: Results From the International TOSCA Study. Front Neurol, 10. p. 821. ISSN 1664-2295 https://doi.org/10.3389/fneur.2019.00821
SGUL Authors: Kingswood, John Christopher

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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.

Item Type: Article
Additional Information: Copyright © 2019 Jansen, Belousova, Benedik, Carter, Cottin, Curatolo, D'Amato, Beaure d'Augères, de Vries, Ferreira, Feucht, Fladrowski, Hertzberg, Jozwiak, Lawson, Macaya, Marques, Nabbout, O'Callaghan, Qin, Sander, Sauter, Shah, Takahashi, Touraine, Youroukos, Zonnenberg and Kingswood. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
Keywords: SEGA, TOSCA, mTOR, registry, tuberous sclerosis complex, mTOR, registry, SEGA, TOSCA, tuberous sclerosis complex, 1109 Neurosciences, 1103 Clinical Sciences, 1701 Psychology
SGUL Research Institute / Research Centre: Academic Structure > Molecular and Clinical Sciences Research Institute (MCS)
Journal or Publication Title: Front Neurol
ISSN: 1664-2295
Language: eng
Dates:
DateEvent
2 August 2019Published
16 July 2019Accepted
Publisher License: Creative Commons: Attribution 4.0
Projects:
Project IDFunderFunder ID
602391Seventh Framework Programmehttp://dx.doi.org/10.13039/501100004963
STRATEGMED3/306306/4/2016Polish National Center for Research and DevelopmentUNSPECIFIED
PubMed ID: 31428037
Web of Science ID: WOS:000478639000001
Go to PubMed abstract
URI: https://openaccess.sgul.ac.uk/id/eprint/111237
Publisher's version: https://doi.org/10.3389/fneur.2019.00821

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