Clinical Characteristics of Subependymal Giant Cell Astrocytoma in Tuberous Sclerosis Complex

被引：23

作者：

Jansen, Anna C. ^{[1
]}

Belousova, Elena ^{[2
]}

Benedik, Mirjana P. ^{[3
]}

Carter, Tom ^{[4
]}

Cottin, Vincent ^{[5
]}

Curatolo, Paolo ^{[6
]}

Dahlin, Maria ^{[7
]}

D'Amato, Lisa ^{[8
]}

d'Augeres, Guillaume Beaure ^{[9
]}

de Vries, Petrus J. ^{[10
]}

Ferreira, Jose C. ^{[11
]}

Feucht, Martha ^{[12
]}

Fladrowski, Carla ^{[13
,14
]}

Hertzberg, Christoph ^{[15
]}

Jozwiak, Sergiusz ^{[16
,17
]}

Lawson, John A. ^{[18
]}

Macaya, Alfons ^{[19
]}

Marques, Ruben ^{[8
,20
]}

Nabbout, Rima ^{[21
]}

O'Callaghan, Finbar ^{[22
]}

Qin, Jiong ^{[23
]}

Sander, Valentin ^{[24
]}

Sauter, Matthias ^{[25
]}

Shah, Seema ^{[26
]}

Takahashi, Yukitoshi ^{[27
]}

Touraine, Renaud ^{[28
]}

Youroukos, Sotiris ^{[29
]}

Zonnenberg, Bernard ^{[30
]}

Kingswood, John C. ^{[31
]}

Shinohara, Nobuo

Horie, Shigeo

Kubota, Masaya

Tohyama, Jun

Imai, Katsumi

Kaneda, Mari

Kaneko, Hideo

Uchida, Yasushi

Kirino, Tomoko

Endo, Shoichi

Inoue, Yoshikazu

Uruno, Katsuhisa

Serdaroglu, Ayse

Yapici, Zuhal

Anlar, Banu

Altunbasak, Sakir

Lvova, Olga

Belyaev, Oleg Valeryevich

Agranovich, Oleg

Levitina, Elena Vladislavovna

Maksimova, Yulia Vladimirovna

机构：

[1] Vrije Univ Brussel, Univ Ziekenhuis Brussel, Dept Pediat, Pediat Neurol Unit, Brussels, Belgium

[2] Pirogov Russian Natl Res Med Univ, Res & Clin Inst Pediat, Moscow, Russia

[3] SPS Pediatricna Klin, Child Neurol Dept, Ljubljana, Slovenia

[4] Tuberous Sclerosis Assoc, Nottingham, England

[5] Claude Bernard Univ Lyon 1, Hop Louis Pradel, Lyon, France

[6] Tor Vergata Univ Hosp, Syst Med Dept, Child Neurol & Psychiat Unit, Rome, Italy

[7] Astrid Lindgren Children Hosp, Neuropediat Dept, Stockholm, Sweden

[8] Novartis Farma SpA, Origgio, Italy

[9] Assoc Sclerose Tubereuse Bourneville, Gradignan, France

[10] Univ Cape Town, Div Child & Adolescent Psychiat, Cape Town, South Africa

[11] Ctr Hosp Lisboa Ocidental, Neurol Dept, Lisbon, Portugal

[12] Med Univ Vienna, Univ Klin Kinder & Jugendheilkunde, Vienna, Austria

[13] Assoc Sclerosi Tuberosa ONLUS, Milan, Italy

[14] European Tuberous Sclerosis Complex Assoc, In Den Birken, Datteln, Germany

[15] Vivantes Klinikum Neukolln, Zentrum Neuropadiatrie & Sozialpadiatrie, Berlin, Germany

[16] Warsaw Med Univ, Dept Child Neurol, Warsaw, Poland

[17] Childrens Mem Hlth Inst, Dept Neurol & Epileptol, Warsaw, Poland

[18] Sydney Childrens Hosp, Tuberous Sclerosis Multidisciplinary Management C, Randwick, NSW, Australia

[19] Hosp Univ Vall dHebron, Pediat Neurol Sect, Barcelona, Spain

[20] Univ Leon, Inst Biomed, Leon, Spain

[21] Paris Descartes Univ, Necker Enfants Malades Hosp, Dept Pediat Neurol, Paris, France

[22] UCL, Inst Child Hlth, London, England

[23] Peking Univ, Peoples Hosp, Dept Pediat, Beijing, Peoples R China

[24] Tallinn Children Hosp, Neurol & Rehabil, Tallinn, Estonia

[25] Klin Verbund Kempten Oberallgau gGmbH, Klinikum Kempten, Kempten, Germany

[26] Novartis Healthcare Pvt Ltd, Hyderabad, India

[27] NHO, Shizuoka Inst Epilepsy & Neurol Disorders, Natl Epilepsy Ctr, Shizuoka, Japan

[28] CHU Hop Nord, Dept Genet, St Etienne, France

[29] Athens Univ, Dept Paediat 1, St Sophia Childrens Hosp, Athens, Greece

[30] Univ Med Ctr, Dept Internal Med, Utrecht, Netherlands

[31] St Georges Univ London, Cardiol Clin Acad Grp, Mol & Clin Sci Res Ctr, London, England

来源：

FRONTIERS IN NEUROLOGY | 2019年 / 10卷

关键词：

mTOR; registry; SEGA; TOSCA; tuberous sclerosis complex; DOUBLE-BLIND; RECOMMENDATIONS; MANAGEMENT; EVEROLIMUS; DISEASE; ANGIOMYOLIPOMA; DIAGNOSIS; SEVERITY; CHILDREN; REGISTRY;

D O I：

10.3389/fneur.2019.00705

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

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.

引用

页数：9

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