TY - JOUR
T1 - Newly diagnosed and growing subependymal giant cell astrocytoma in adults with tuberous sclerosis complex
T2 - Results from the International TOSCA Study
AU - on behalf of TOSCA Consortium and TOSCA Investigators
AU - Jansen, Anna C.
AU - Belousova, Elena
AU - Benedik, Mirjana P.
AU - Carter, Tom
AU - Cottin, Vincent
AU - Curatolo, Paolo
AU - D'Amato, Lisa
AU - D'Augères, Guillaume Beaure
AU - De Vries, Petrus J.
AU - Ferreira, José C.
AU - Feucht, Martha
AU - Fladrowski, Carla
AU - Hertzberg, Christoph
AU - Jozwiak, Sergiusz
AU - Lawson, John A.
AU - MacAya, Alfons
AU - Marques, Ruben
AU - Nabbout, Rima
AU - O'Callaghan, Finbar
AU - Qin, Jiong
AU - Sander, Valentin
AU - Sauter, Matthias
AU - Shah, Seema
AU - Takahashi, Yukitoshi
AU - Touraine, Renaud
AU - Youroukos, Sotiris
AU - Zonnenberg, Bernard
AU - Kingswood, John C.
AU - Fladrowsk, Carla
AU - Shinohara, Nobuo
AU - Horie, Shigeo
AU - Kubota, Masaya
AU - Tohyama, Jun
AU - Imai, Katsumi
AU - Kaneda, Mari
AU - Kaneko, Hideo
AU - Uchida, Yasushi
AU - Kirino, Tomoko
AU - Endo, Shoichi
AU - Inoue, Yoshikazu
AU - Uruno, Katsuhisa
AU - Serdaroglu, Ayse
AU - Yapici, Zuhal
AU - Anlar, Banu
AU - Altunbasak, Sakir
AU - Lvova, Olga
AU - Belyaev, Oleg Valeryevich
AU - Agranovich, Oleg
AU - Levitina, Elena Vladislavovna
AU - Likasitwattanakul, Surachai
N1 - Publisher 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.
PY - 2019
Y1 - 2019
N2 - 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.
AB - 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.
KW - Registry
KW - SEGA
KW - TOSCA
KW - Tuberous sclerosis complex
KW - mTOR
UR - https://www.scopus.com/pages/publications/85070971503
U2 - 10.3389/fneur.2019.00821
DO - 10.3389/fneur.2019.00821
M3 - Article
AN - SCOPUS:85070971503
SN - 1664-2295
VL - 10
JO - Frontiers in Neurology
JF - Frontiers in Neurology
IS - JUL
M1 - 821
ER -