Article dans une revue

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

SYMMES - SYstèmes Moléculaires et nanoMatériaux pour l’Energie et la Santé : DRF/IRIG/SYMMES

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 iBrain - Inserm U1253 - UNIV Tours - Imagerie et cerveau

15 CHRU Tours - Centre Hospitalier Régional Universitaire de Tours

16 Service de Neuro-pédiatrie[Lille]

17 MMG - Marseille medical genetics - Centre de génétique médicale de Marseille

18 Département de Pédiatrie [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 [Austria]

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

Abstract : 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.

Keywords : mTOR registry SEGA TOSCA tuberous sclerosis complex

Type de document :

Article dans une revue

Domaine :

Sciences du Vivant [q-bio]

Liste complète des métadonnées

https://hal-u-picardie.archives-ouvertes.fr/hal-03603521
Contributeur : Louise DESSAIVRE Connectez-vous pour contacter le contributeur
Soumis le : mercredi 9 mars 2022 - 21:10:25
Dernière modification le : mercredi 28 septembre 2022 - 16:20:11