Clinical Characteristics of Subependymal Giant Cell Astrocytoma in Tuberous Sclerosis Complex

Επιστημονική δημοσίευση - Άρθρο Περιοδικού uoadl:3184793 46 Αναγνώσεις

Μονάδα:
Ερευνητικό υλικό ΕΚΠΑ
Τίτλος:
Clinical Characteristics of Subependymal Giant Cell Astrocytoma in
Tuberous Sclerosis Complex
Γλώσσες Τεκμηρίου:
Αγγλικά
Περίληψη:
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.
Έτος δημοσίευσης:
2019
Συγγραφείς:
Jansen, Anna C.
Belousova, Elena
Benedik, Mirjana P.
Carter,
Tom
Cottin, Vincent
Curatolo, Paolo
Dahlin, Maria and
D'Amato, Lisa
d'Augeres, Guillaume Beaure
de Vries, Petrus J.
and Ferreira, Jose C.
Feucht, Martha
Fladrowski, Carla and
Hertzberg, Christoph
Jozwiak, Sergiusz
Lawson, John A. and
Macaya, Alfons
Marques, Ruben
Nabbout, Rima
O'Callaghan,
Finbar
Qin, Jiong
Sander, Valentin
Sauter, Matthias and
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 and
Kirino, Tomoko
Endo, Shoichi
Inoue, Yoshikazu
Uruno,
Katsuhisa
Serdaroglu, Ayse
Yapici, Zuhal
Anlar, Banu and
Altunbasak, Sakir
Lvova, Olga
Belyaev, Oleg Valeryevich and
Agranovich, Oleg
Levitina, Elena Vladislavovna
Maksimova, Yulia
Vladimirovna
Karas, Antonina
Jiang, Yuwu
Zou, Liping
Xu,
Kaifeng
Zhang, Yushi
Luan, Guoming
Zhang, Yuqin
Wang, Yi
and Jin, Meiling
Ye, Dingwei
Liao, Weiping
Zhou, Liemin and
Liu, Jie
Liao, Jianxiang
Yan, Bo
Deng, Yanchun
Jiang, Li
and Liu, Zhisheng
Huang, Shaoping
Li, Hua
Kim, Kijoong and
Chen, Pei-Lung
Lee, Hsiu-Fen
Tsai, Jeng-Dau
Chi,
Ching-Shiang
Huang, Chao-Ching
Riney, Kate
Yates, Deborah
and Kwan, Patrick
Likasitwattanakul, Surachai
Nabangchang,
Charcrin
Chomtho, Lunliya Thampratankul Krisnachai
Katanyuwong,
Kamornwan
Sriudomkajorn, Somjit
Wilmshurst, Jo
Segel, Reeval
and Gilboa, Tal
Tzadok, Michal
Fattal-Valevski, Aviva and
Papathanasopoulos, Panagiotis
Papavasiliou, Antigone Syrigou and
Giannakodimos, Stylianos
Gatz, Stylianos
Pavlou, Evangelos and
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 and
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 and
Bermejo, Antonio Martinez
Dura, Patricia Smeyers
Aparicio,
Susana Roldan
Gonzalez, Maria Jesus Martinez
Pison, Javier Lopez
and 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 and
Monteiro, Jose Paulo da Silva Oliveira
Leao, Miguel Jorge Santos de
Oliveira Ferreira
Luis, Catarina Sofia Marceano Ribeiro and
Mendonca, Carla Pires
Endziniene, Milda
Strautmanis, Jurgis and
Talvik, Inga
Canevini, Maria Paola
Gambardella, Antonio and
Pruna, Dario
Buono, Salvatore
Fontana, Elena
Dalla
Bernardina, Bernardo
Burloiu, Carmen
Cosma, Iuliu Stefan Bacos
and Vintan, Mihaela Adela
Popescu, Laura
Zitterbart, Karel and
Payerova, Jaroslava
Bratsky, Ladislav
Zilinska, Zuzana and
Gruber-Sedlmayr, Ursula
Baumann, Matthias
Haberland, Edda and
Rostasy, Kevin
Pataraia, Ekaterina
Elmslie, Frances and
Johnston, Clare Ann
Crawford, Pamela
Uldall, Peter
Uvebrant,
Paul
Rask, Olof
Bjoernvold, Marit
Brodtkorb, Eylert and
Sloerdahl, Andreas
Solhoff, Ragnar
Jaatun, Martine Sofie Gilje
and Mandera, Marek
Radzikowska, Elzbieta Janina
Wysocki, Mariusz
and Fischereder, Michael
Kurlemann, Gerhard
Wilken, Bernd and
Wiemer-Kruel, Adelheid
Budde, Klemens
Marquard, Klaus
Knuf,
Markus
Hahn, Andreas
Hartmann, Hans
Merkenschlager, Andreas
and Trollmann, Regina
TOSCA Consortium
TOSCA Investigators
Περιοδικό:
Frontiers in Neurology
Εκδότης:
Frontiers Media SA
Τόμος:
10
Λέξεις-κλειδιά:
mTOR; registry; SEGA; TOSCA; tuberous sclerosis complex
Επίσημο URL (Εκδότης):
DOI:
10.3389/fneur.2019.00705
Το ψηφιακό υλικό του τεκμηρίου δεν είναι διαθέσιμο.