Clinical characteristics of subependymal giant cell astrocytoma in tuberous sclerosis complex
2019
Karas, Antonina | Jiang, Yuwu | Zou, Liping | Xu, Kaifeng | Zhang, Yushi | Luan, Guoming | Zhang, Yuqin | Wang, Yi | Jin, Meiling | Ye, Dingwei | Liao, Weiping | Zhou, Liemin | Liu, Jie | Liao, Jianxiang | Yan, Bo | Deng, Yanchun | Jiang, Li | Liu, Zhisheng | Huang, Shaoping | Li, Hua | Kim, Kijoong | Chen, Pei-Lung | Lee, Hsiu-Fen | Tsai, Jeng-Dau | Chi, Ching-Shiang | Huang, Chao-Ching | Riney, Kate | Yates, Deborah | Kwan, Patrick | Likasitwattanakul, Surachai | Nabangchang, Charcrin | Chomtho, Lunliya Thampratankul Krisnachai | Katanyuwong, Kamornwan | Sriudomkajorn, Somjit | Wilmshurst, Jo | Segel, Reeval | Gilboa, Tal | Tzadok, Michal | Fattal-Valevski, Aviva | Papathanasopoulos, Panagiotis | Papavasiliou, Antigone Syrigou | Giannakodimos, Stylianos | Gatz, Stylianos | Pavlou, Evangelos | Tzoufi, Meropi | Vergeer, A. M. H. | Dhooghe, Marc | Verhelst, Helene | Roelens, Filip | Nassogne, Marie Cecile | Defresne, Pierre | De Waele, Liesbeth | Leroy, Patricia | Demonceau, Nathalie | Legros, Benjamin | Van Bogaert, Patrick | Ceulemans, Berten | Dom, Lina | Castelnau, Pierre | Martin, Anne De St | Riquet, Audrey | Milh, Mathieu | Cances, Claude | Pedespan, Jean-Michel | Ville, Dorothee | Roubertie, Agathe | Auvin, Stephane | Berquin, Patrick | Richelme, Christian | Allaire, Catherine | Gueden, Sophie | Tich, Sylvie Nguyen The | Godet, Bertrand | Rojas, Maria Luz Ruiz Falco | Planas, Jaume Campistol | Bermejo, Antonio Martinez | Dura, Patricia Smeyers | Aparicio, Susana Roldan | Gonzalez, Maria Jesus Martinez | Pison, Javier Lopez | Barca, Manuel Oscar Blanco | Laso, Eduardo Lopez | Luengo, Olga Alonso | Rodriguez, Francisco Javier Aguirre | Dieguez, Ignacio Malaga | Salas, Ana Camacho | Carrera, Itxaso Marti | Salcedo, Eduardo Martinez | Petri, Maria Eugenia Yoldi | Candela, Ramon Cancho | Carrilho, Ines da Conceicao | Vieira, Jose Pedro | Monteiro, Jose Paulo da Silva Oliveira | Leao, Miguel Jorge Santos de Oliveira Ferreira | Luis, Catarina Sofia Marceano Ribeiro | Mendonca, Carla Pires | Endziniene, Milda | Strautmanis, Jurgis | Talvik, Inga | Canevini, Maria Paola | Gambardella, Antonio | Pruna, Dario | Buono, Salvatore | Fontana, Elena | Dalla Bernardina, Bernardo | Burloiu, Carmen | Cosma, Iuliu Stefan Bacos | Vintan, Mihaela Adela | Popescu, Laura | Zitterbart, Karel | Payerova, Jaroslava | Bratsky, Ladislav | Zilinska, Zuzana | Gruber-Sedlmayr, Ursula | Baumann, Matthias | Haberland, Edda | Rostasy, Kevin | Pataraia, Ekaterina | Elmslie, Frances | Johnston, Clare Ann | Crawford, Pamela | Uldall, Peter | Uvebrant, Paul | Rask, Olof | Bjoernvold, Marit | Brodtkorb, Eylert | Sloerdahl, Andreas | Solhoff, Ragnar | Jaatun, Martine Sofie Gilje | Mandera, Marek | Radzikowska, Elzbieta Janina | Wysocki, Mariusz | Fischereder, Michael | Kurlemann, Gerhard | Wilken, Bernd | Wiemer-Kruel, Adelheid | Budde, Klemens | Marquard, Klaus | Knuf, Markus | Hahn, Andreas | Hartmann, Hans | Merkenschlager, Andreas | Trollmann, Regina | Jansen, Anna C. | Belousova, Elena | Benedik, Mirjana P. | Carter, Tom | Cottin, Vincent | Curatolo, Paolo | Dahlin, Maria | D'Amato, Lisa | d'Augeres, Guillaume Beaure | Vries, Petrus J., | Ferreira, Jose C. | Feucht, Martha | Fladrowski, Carla | Hertzberg, Christoph | Jozwiak, Sergiusz | Lawson, John A. | Macaya, Alfons | Marques, Ruben | Nabbout, Rima | O'Callaghan, Finbar | Qin, Jiong | Sander, Valentin | Sauter, Matthias | Shah, Seema | Takahashi, Yukitoshi | Touraine, Renaud | Youroukos, Sotiris | Zonnenberg, Bernard | Kingswood, John C. | Shinohara, Nobuo | Horie, Shigeo | Kubota, Masaya | Tohyama, Jun | Imai, Katsumi | Kaneda, Mari | Kaneko, Hideo | Uchida, Yasushi | Kirino, Tomoko | Endo, Shoichi | Inoue, Yoshikazu | Uruno, Katsuhisa | Serdaroglu, Ayse | Yapici, Zuhal | Anlar, Banu | Altunbasak, Sakir | Lvova, Olga | Belyaev, Oleg Valeryevich | Agranovich, Oleg | Levitina, Elena Vladislavovna | Maksimova, Yulia Vladimirovna
International audience
Afficher plus [+] Moins [-]anglais. 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.
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