Newly diagnosed and growing subependymal giant cell astrocytoma in adults with tuberous sclerosis complex: Results from the international TOSCA study
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Jansen, Anna C. | Belousova, Elena | Benedik, Mirjana P. | Carter, Tom | Cottin, Vincent | Curatolo, Paolo | d'Amato, Lisa | d'Augeres, Guillaume Beaure | Vries, Petrus J., De | 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 | Fattal-Valevski, Aviva | Papathanasopoulos, Panagiotis | Papavasiliou, Antigone Syrigou | Giannakodimos, Stylianos | Gatzonis, 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 Saint | Riquet, Audrey | Milh, Mathieu | Cances, Claude | Pedespan, Jean-Michel | Ville, Dorothée | Roubertie, Agathe | Auvin, Stephane | Berquin, Patrick | Richelme, Christian | Allaire, Catherine | Gueden, Sophie | Tich, Sylvie Nguyen The | Godet, Bertrand | Falco Rojas, Maria Luz Ruiz | Campistol Planas, Jaume | Martinez Bermejo, Antonio | Smeyers Dura, Patricia | Roldan Aparicio, Susana | Martinez Gonzalez, Maria Jesus | Lopez Pison, Javier | Blanco Barca, Manuel Oscar | Lopez Laso, Eduardo | Alonso Luengo, Olga | Aguirre Rodriguez, Francisco Javier | Malaga Dieguez, Ignacio | Camacho Salas, Ana | Marti Carrera, Itxaso | Martinez Salcedo, Eduardo | Yoldi Petri, Maria Eugenia | Cancho Candela, Ramon | Carrilho, Ines da Conceicao | Vieira, Jose Pedro | Silva Oliveira Monteiro, Jose Paulo, Da | Oliveira Ferreira Leao, Miguel Jorge Santos, De | Marceano Ribeiro Luis, Catarina Sofia | 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 | Haberlandt, Edda | Rostasy, Kevin | Pataraia, Ekaterina | Elmslie, Frances | Johnston, Clare Ann | Crawford, Pamela | Uldall, Peter | Dahlin, Maria | 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
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International audience.
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.
