@article{2997924,
    title = "Newly diagnosed and growing subependymal giant cell astrocytoma in adults with tuberous sclerosis complex: Results from the International TOSCA Study",
    author = "Jansen, A.C. and Belousova, E. and Benedik, M.P. and Carter, T. and Cottin, V. and Curatolo, P. and D'Amato, L. and D'Augères, G.B. and De Vries, P.J. and Ferreira, J.C. and Feucht, M. and Fladrowski, C. and Hertzberg, C. and Jozwiak, S. and Lawson, J.A. and MacAya, A. and Marques, R. and Nabbout, R. and O'Callaghan, F. and Qin, J. and Sander, V. and Sauter, M. and Shah, S. and Takahashi, Y. and Touraine, R. and Youroukos, S. and Zonnenberg, B. and Kingswood, J.C. and Fladrowsk, C. and Shinohara, N. and Horie, S. and Kubota, M. and Tohyama, J. and Imai, K. and Kaneda, M. and Kaneko, H. and Uchida, Y. and Kirino, T. and Endo, S. and Inoue, Y. and Uruno, K. and Serdaroglu, A. and Yapici, Z. and Anlar, B. and Altunbasak, S. and Lvova, O. and Belyaev, O.V. and Agranovich, O. and Levitina, E.V. and Maksimova, Y.V. and Karas, A. and Jiang, Y. and Zou, L. and Xu, K. and Zhang, Y. and Luan, G. and Zhang, Y. and Wang, Y. and Jin, M. and Ye, D. and Liao, W. and Zhou, L. and Liu, J. and Liao, J. and Yan, B. and Deng, Y. and Jiang, L. and Liu, Z. and Huang, S. and Li, H. and Kim, K. and Chen, P.-L. and Lee, H.-F. and Tsai, J.-D. and Chi, C.-S. and Huang, C.-C. and Riney, K. and Yates, D. and Kwan, P. and Likasitwattanakul, S. and Nabangchang, C. and Krisnachai Chomtho, L.T. and Katanyuwong, K. and Sriudomkajorn, S. and Wilmshurst, J. and Segel, R. and Gilboa, T. and Tzadok, M. and Fattal-Valevski, A. and Papathanasopoulos, P. and Papavasiliou, A.S. and Giannakodimos, S. and Gatzonis, S. and Pavlou, E. and Tzoufi, M. and Vergeer, A.M.H. and Dhooghe, M. and Verhelst, H. and Roelens, F. and Nassogne, M.C. and Defresne, P. and De Waele, L. and Leroy, P. and Demonceau, N. and Legros, B. and Van Bogaert, P. and Ceulemans, B. and Dom, L. and Castelnau, P. and De Saint Martin, A. and Riquet, A. and Milh, M. and Cances, C. and Pedespan, J.-M. and Ville, D. and Roubertie, A. and Auvin, S. and Berquin, P. and Richelme, C. and Allaire, C. and Gueden, S. and The Tich, S.N. and Godet, B. and Ruiz Falco Rojas, M.L. and Planas, J.C. and Bermejo, A.M. and Dura, P.S. and Aparicio, S.R. and Martinez Gonzalez, M.J. and Pison, J.L. and Blanco Barca, M.O. and Laso, E.L. and Luengo, O.A. and Aguirre Rodriguez, F.J. and Dieguez, I.M. and Salas, A.C. and Carrera, I.M. and Salcedo, E.M. and Yoldi Petri, M.E. and Candela, R.C. and Da Conceicao Carrilho, I. and Vieira, J.P. and Da Silva Oliveira Monteiro, J.P. and Santos De Oliveira Ferreira Leao, M.J. and Marceano Ribeiro Luis, C.S. and Mendonca, C.P. and Endziniene, M. and Strautmanis, J. and Talvik, I. and Canevini, M.P. and Gambardella, A. and Pruna, D. and Buono, S. and Fontana, E. and Dalla Bernardina, B. and Burloiu, C. and Bacos Cosma, I.S. and Vintan, M.A. and Popescu, L. and Zitterbart, K. and Payerova, J. and Bratsky, L. and Zilinska, Z. and Gruber-Sedlmayr, U. and Baumann, M. and Haberlandt, E. and Rostasy, K. and Pataraia, E. and Elmslie, F. and Johnston, C.A. and Crawford, P. and Uldall, P. and Dahlin, M. and Uvebrant, P. and Rask, O. and Bjoernvold, M. and Brodtkorb, E. and Sloerdahl, A. and Solhoff, R. and Gilje Jaatun, M.S. and Mandera, M. and Radzikowska, E.J. and Wysocki, M. and Fischereder, M. and Kurlemann, G. and Wilken, B. and Wiemer-Kruel, A. and Budde, K. and Marquard, K. and Knuf, M. and Hahn, A. and Hartmann, H. and Merkenschlager, A. and Trollmann, R. and on behalf of TOSCA Consortium and TOSCA Investigators",
    journal = "Frontiers in Neurology",
    year = "2019",
    volume = "10",
    number = "JUL",
    publisher = "Frontiers Media S.A",
    doi = "10.3389/fneur.2019.00821",
    keywords = "tuberin, adolescent;  adult;  Article;  asymptomatic disease;  cancer growth;  child;  cohort analysis;  controlled study;  female;  gene mutation;  human;  major clinical study;  male;  prevalence;  prospective study;  subependymal giant cell astrocytoma;  TSC2 gene;  tuberous sclerosis",
    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. © 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."
}