AUTHOR=Jansen Anna C. , Belousova Elena , Benedik Mirjana P. , Carter Tom , Cottin Vincent , Curatolo Paolo , Dahlin Maria , D'Amato Lisa , d'Augères Guillaume Beaure , de Vries Petrus J. , Ferreira José C. , Feucht Martha , Fladrowski Carla , Hertzberg Christoph , Jozwiak Sergiusz , Lawson John A. , Macaya Alfons , Marques Ruben , Nabbout Rima , O'Callaghan Finbar , Qin Jiong , Sander Valentin , Sauter Matthias , Shah Seema , Takahashi Yukitoshi , Touraine Renaud , Youroukos Sotiris , Zonnenberg Bernard , Kingswood John C. 

TITLE=Clinical Characteristics of Subependymal Giant Cell Astrocytoma in Tuberous Sclerosis Complex

JOURNAL=Frontiers in Neurology

VOLUME=10

YEAR=2019

URL=https://www.frontiersin.org/journals/neurology/articles/10.3389/fneur.2019.00705

DOI=10.3389/fneur.2019.00705

ISSN=1664-2295

ABSTRACT=<p><bold>Background:</bold> 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).</p><p><bold>Methods:</bold> 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.</p><p><bold>Results:</bold> SEGA were reported in 554 of 2,216 patients (25%). Median age at diagnosis of SEGA was 8 years (range, &lt;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 &gt; 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 <italic>TSC2</italic> compared to <italic>TSC1</italic> variants (33.7 vs. 13.2 %, <italic>p</italic> &lt; 0.0001). Main treatment modalities included surgery (59.6%) and mammalian target of rapamycin (mTOR) inhibitors (49%).</p><p><bold>Conclusions:</bold> Although SEGA diagnosis and growth typically occurs during childhood, SEGA can occur and grow in both infants and adults.</p>