Clinical characteristics of subependymal giant cell astrocytoma in tuberous sclerosis complex

Jansen, A. C.; Belousova, E.; Benedik, M. P.; Carter, T.; Cottin, V.; Curatolo, P.; Dahlin, M.; D'Amato, L.; D'Augeres, G. B.; De Vries, P. J.; Ferreira, J. C.; Feucht, M.; Fladrowski, C.; Hertzberg, C.; Jozwiak, S.; Lawson, J. A.; 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, J. C.; Shinohara, N.; Horie, S.; Kubota, M.; Tohyama, J.; Imai, K.; Kaneda, M.; Kaneko, H.; Uchida, Y.; Kirino, T.; Endo, S.; Inoue, Y.; Uruno, K.; Serdaroglu, A.; Yapici, Z.; Anlar, B.; Altunbasak, S.; Lvova, O.; Belyaev, O. V.; Agranovich, O.; Levitina, E. V.; Maksimova, Y. V.; Karas, A.; Jiang, Y.; Zou, L.; Xu, K.; Zhang, Y.; Luan, G.; Zhang, Y.; Wang, Y.; Jin, M.; Ye, D.; Liao, W.; Zhou, L.; Liu, J.; Liao, J.; Yan, B.; Deng, Y.; Jiang, L.; Liu, Z.; Huang, S.; Li, H.; Kim, K.; Chen, P. -L.; Lee, H. -F.; Tsai, J. -D.; Chi, C. -S.; Huang, C. -C.; Riney, K.; Yates, D.; Kwan, P.; Likasitwattanakul, S.; Nabangchang, C.; Chomtho, L. T. K.; Katanyuwong, K.; Sriudomkajorn, S.; Wilmshurst, J.; Segel, R.; Gilboa, T.; Tzadok, M.; Fattal-Valevski, A.; Papathanasopoulos, P.; Papavasiliou, A. S.; Giannakodimos, S.; Gatzonis, S.; Pavlou, E.; Tzoufi, M.; Vergeer, A. M. H.; Dhooghe, M.; Verhelst, H.; Roelens, F.; Nassogne, M. C.; Defresne, P.; De Waele, L.; Leroy, P.; Demonceau, N.; Legros, B.; Van Bogaert, P.; Ceulemans, B.; Dom, L.; Castelnau, P.; De Saint Martin, A.; Riquet, A.; Milh, M.; Cances, C.; Pedespan, J. -M.; Ville, D.; Roubertie, A.; Auvin, S.; Berquin, P.; Richelme, C.; Allaire, C.; Gueden, S.; Tich, S. N. T.; Godet, B.; Rojas, M. L. R. F.; Planas, J. C.; Bermejo, A. M.; Dura, P. S.; Aparicio, S. R.; Gonzalez, M. J. M.; Pison, J. L.; Barca, M. O. B.; Laso, E. L.; Luengo, O. A.; Rodriguez, F. J. A.; Dieguez, I. M.; Salas, A. C.; Carrera, I. M.; Salcedo, E. M.; Petri, M. E. Y.; Candela, R. C.; Da Conceicao Carrilho, I.; Vieira, J. P.; Da Silva Oliveira Monteiro, J. P.; De Oliveira Ferreira Leao, M. J. S.; Luis, C. S. M. R.; Mendonca, C. P.; Endziniene, M.; Strautmanis, J.; Talvik, I.; Canevini, M. P.; Gambardella, A.; Pruna, D.; Buono, S.; Fontana, E.; Bernardina, B. D.; Burloiu, C.; Cosma, I. S. B.; Vintan, M. A.; Popescu, L.; Zitterbart, K.; Payerova, J.; Bratsky, L.; Zilinska, Z.; Gruber-Sedlmayr, U.; Baumann, M.; Haberlandt, E.; Rostasy, K.; Pataraia, E.; Elmslie, F.; Johnston, C. A.; Crawford, P.; Uldall, P.; Uvebrant, P.; Rask, O.; Bjoernvold, M.; Brodtkorb, E.; Sloerdahl, A.; Solhoff, R.; Jaatun, M. S. G.; Mandera, M.; Radzikowska, E. J.; Wysocki, M.; Fischereder, M.; Kurlemann, G.; Wilken, B.; Wiemer-Kruel, A.; Budde, K.; Marquard, K.; Knuf, M.; Hahn, A.; Hartmann, H.; Merkenschlager, A.; Trollmann, R.

doi:10.3389/fneur.2019.00705

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, <1-51), with 18.1% diagnosed after age 18 years. SEGA growth occurred in 22.7% of patients aged ≤ 18 years and in 11.6% of patients aged > 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.