Clinical characteristics of subependymal giant cell astrocytoma in tuberous sclerosis complex

Antonina Karas , Yuwu Jiang , Liping Zou , Kaifeng Xu , Yushi Zhang , Guoming Luan , Yuqin Zhang , Yi Wang (1) , Meiling Jin , Dingwei Ye (2) , Weiping Liao (3) , Liemin Zhou , Jie Liu (4, 5) , Jianxiang Liao , Bo Yan , Yanchun Deng , Li Jiang , Zhisheng Liu , Shaoping Huang , Hua Li (6) , Kijoong Kim , Pei-Lung Chen , Hsiu-Fen Lee , Jeng-Dau Tsai , Ching-Shiang Chi , Chao-Ching Huang , Kate Riney , Deborah Yates , Patrick Kwan , Surachai Likasitwattanakul , Charcrin Nabangchang , Lunliya Thampratankul Krisnachai Chomtho , Kamornwan Katanyuwong , Somjit Sriudomkajorn , Jo Wilmshurst , Reeval Segel (7) , Tal Gilboa , Michal Tzadok (8) , Aviva Fattal-Valevski , Panagiotis Papathanasopoulos (9) , Antigone Syrigou Papavasiliou , Stylianos Giannakodimos , Stylianos Gatz , Evangelos Pavlou , Meropi Tzoufi , A. M. H. Vergeer , Marc Dhooghe , Helene Verhelst , Filip Roelens , Marie Cecile Nassogne , Pierre Defresne , Liesbeth de Waele (10) , Patricia Leroy (11) , Nathalie Demonceau , Benjamin Legros , Patrick van Bogaert (12) , Berten Ceulemans (13) , Lina Dom , Pierre Castelnau (14, 15) , Anne de St Martin , Audrey Riquet (16) , Mathieu Milh (17) , Claude Cances (18) , Jean-Michel Pedespan (19) , Dorothee Ville (17) , Agathe Roubertie (20) , Stephane Auvin (21, 22) , Patrick Berquin (23) , Christian Richelme (24, 25) , Catherine Allaire (26) , Sophie Gueden (27) , Sylvie Nguyen The Tich , Bertrand Godet (28) , Maria Luz Ruiz Falco Rojas , Jaume Campistol Planas , Antonio Martinez Bermejo , Patricia Smeyers Dura , Susana Roldan Aparicio , Maria Jesus Martinez Gonzalez , Javier Lopez Pison , Manuel Oscar Blanco Barca , Eduardo Lopez Laso , Olga Alonso Luengo , Francisco Javier Aguirre Rodriguez , Ignacio Malaga Dieguez , Ana Camacho Salas , Itxaso Marti Carrera , Eduardo Martinez Salcedo , Maria Eugenia Yoldi Petri , Ramon Cancho Candela , Ines da Conceicao Carrilho , Jose Pedro Vieira , Jose Paulo da Silva Oliveira Monteiro , Miguel Jorge Santos de Oliveira Ferreira Leao , Catarina Sofia Marceano Ribeiro Luis , Carla Pires Mendonca , Milda Endziniene (29) , Jurgis Strautmanis , Inga Talvik , Maria Paola Canevini , Antonio Gambardella (30) , Dario Pruna , Salvatore Buono , Elena Fontana , Bernardo Dalla Bernardina , Carmen Burloiu , Iuliu Stefan Bacos Cosma , Mihaela Adela Vintan , Laura Popescu , Karel Zitterbart , Jaroslava Payerova , Ladislav Bratsky , Zuzana Zilinska , Ursula Gruber-Sedlmayr , Matthias Baumann (31) , Edda Haberland , Kevin Rostasy (32) , Ekaterina Pataraia , Frances Elmslie (33) , Clare Ann Johnston , Pamela Crawford , Peter Uldall (34) , Paul Uvebrant , Olof Rask , Marit Bjoernvold , Eylert Brodtkorb , Andreas Sloerdahl , Ragnar Solhoff , Martine Sofie Gilje Jaatun , Marek Mandera , Elzbieta Janina Radzikowska , Mariusz Wysocki (35) , Michael Fischereder , Gerhard Kurlemann , Bernd Wilken , Adelheid Wiemer-Kruel , Klemens Budde (36) , Klaus Marquard , Markus Knuf , Andreas Hahn , Hans Hartmann , Andreas Merkenschlager , Regina Trollmann , Anna C. Jansen , Elena Belousova (37) , Mirjana P. Benedik , Tom Carter , Vincent Cottin (38) , Paolo Curatolo , Maria Dahlin , Lisa d'Amato , Guillaume Beaure d'Augeres , Petrus J. De Vries , Jose C. Ferreira , Martha Feucht , Carla Fladrowski , Christoph Hertzberg , Sergiusz Jozwiak , John A. Lawson , Alfons Macaya (39) , Ruben Marques , Rima Nabbout (40, 41) , Finbar O'Callaghan , Jiong Qin , Valentin Sander , Matthias Sauter , Seema Shah , Yukitoshi Takahashi , Renaud Touraine (42) , Sotiris Youroukos , Bernard Zonnenberg (43) , John C. Kingswood , Nobuo Shinohara , Shigeo Horie , Masaya Kubota , Jun Tohyama , Katsumi Imai , Mari Kaneda , Hideo Kaneko , Yasushi Uchida , Tomoko Kirino , Shoichi Endo , Yoshikazu Inoue , Katsuhisa Uruno , Ayse Serdaroglu , Zuhal Yapici , Banu Anlar , Sakir Altunbasak , Olga Lvova , Oleg Valeryevich Belyaev , Oleg Agranovich , Elena Vladislavovna Levitina , Yulia Vladimirovna Maksimova

1 JHU - Johns Hopkins University
2 Fudan University [Shanghai]
3 EED
4 CREAB - Chimie pour la Reconnaissance et l’Etude d’Assemblages Biologiques
5 DIESE - Département Interfaces pour l'énergie, la Santé et l'Environnement
6 GATECH - College of Computing
7 Institute for Human Genetics
8 Safra Children's Hospital
9 Department of Neurology
10 University Hospitals Leuven [Leuven]
11 CHU de Liège,
12 LARIS - Laboratoire Angevin de Recherche en Ingénierie des Systèmes
13 UA - University of Antwerp
14 CHRU Tours - Centre Hospitalier Régional Universitaire de Tours
15 IBT - UMR 1253 IBrain Imagerie & Cerveau Equipe 3 "Imagerie, Biomarqueurs & Thérapie"
16 Service de Neuro-pédiatrie[Lille]
17 MMG - Marseille medical genetics - Centre de génétique médicale de Marseille
18 Pôle Enfants [CHU Toulouse]
19 Service de neurologie pédiatrique [CHU de Bordeaux]
20 CHRU Montpellier - Centre Hospitalier Régional Universitaire [Montpellier]
21 PROTECT - Neuroprotection du Cerveau en Développement / Promoting Research Oriented Towards Early Cns Therapies
22 AP-HP Hôpital universitaire Robert-Debré [Paris]
23 GRAMFC - Groupe de Recherche sur l'Analyse Multimodale de la Fonction Cérébrale - UMR INSERM_S 1105
24 Service de pédiatrie
25 Centre de recherche en Myologie – U974 SU-INSERM
26 Service de Neurologie [Chateaulin]
27 CHU Angers - Centre Hospitalier Universitaire d'Angers
28 Service de Neurologie [CHU Limoges]
29 Lithuanian University of Health Sciences [Kaunas, Lithuania]
30 Regional Epilepsy Center, Reggio Calabria
31 IMU - Innsbruck Medical University = Medizinische Universität Innsbruck
32 Witten/Herdecke University
33 St. George's Hospital
34 Danish Epilepsy Centre
35 Department of Pediatric Hematology and Oncology, Collegium Medicum
36 Charité - UniversitätsMedizin = Charité - University Hospital [Berlin]
37 MONICA - Moscow Regional Research Clinical Institute
38 IVPC - Infections Virales et Pathologie Comparée - UMR 754
39 UAB - Universitat Autònoma de Barcelona
40 CHU Necker - Enfants Malades [AP-HP]
41 Imagine - U1163 - Imagine - Institut des maladies génétiques (IHU)
42 Service de Génétique Clinique Chromosomique et Moléculaire
43 Department of Clinical Genetics

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.

Mots clés: mTOR; registry; SEGA; TOSCA; tuberous sclerosis complex

Domaines: Sciences du Vivant [q-bio]

Antonina Karas, Yuwu Jiang, Liping Zou, Kaifeng Xu, Yushi Zhang, et al.. Clinical characteristics of subependymal giant cell astrocytoma in tuberous sclerosis complex. Frontiers in Neurology, 2019, 10, pp.705. ⟨10.3389/fneur.2019.00705⟩. ⟨hal-03603521⟩