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
Pediatric Neurology Unit, Department of Pediatrics, Universitair Ziekenhuis Brussel, Vrije Universiteit Brussel, Brussels, Belgium.
Research and Clinical Institute of Pediatrics, Pirogov Russian National Research Medical University, Moscow, Russia.
Front Neurol. 2019 Jul 3;10:705. doi: 10.3389/fneur.2019.00705. eCollection 2019.
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). 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. 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 compared to variants (33.7 vs. 13.2 %, < 0.0001). Main treatment modalities included surgery (59.6%) and mammalian target of rapamycin (mTOR) inhibitors (49%). Although SEGA diagnosis and growth typically occurs during childhood, SEGA can occur and grow in both infants and adults.
本研究评估了纳入结节性硬化症登记以提高疾病认知度（TOSCA）的结节性硬化症（TSC）患者的室管膜下巨细胞星形细胞瘤（SEGA）特征。该研究在31个国家的170个地点进行。纳入了在入组前12个月内有TSC临床就诊记录的任何年龄患者或新诊断为TSC的患者的数据。2216例患者中有554例（25%）报告患有SEGA。SEGA诊断时的中位年龄为8岁（范围，<1 - 51岁），18.1%在18岁以后被诊断。≤18岁患者中22.7%出现SEGA生长，>18岁患者中11.6%出现SEGA生长。42.1%的患者SEGA有症状。症状包括癫痫发作频率增加（15.8%）、行为障碍（11.9%）和认知技能退化/丧失（9.9%），以及那些通常与颅内压升高相关的症状。与 变体患者相比， 变体患者中SEGA明显更常见（33.7%对13.2%，<0.0001）。主要治疗方式包括手术（59.6%）和雷帕霉素靶蛋白（mTOR）抑制剂（49%）。尽管SEGA诊断和生长通常发生在儿童期，但SEGA在婴儿和成人中均可发生并生长。
