Jansen Anna C, Belousova Elena, Benedik Mirjana P, Carter Tom, Cottin Vincent, Curatolo Paolo, D'Amato Lisa, Beaure d'Augères Guillaume, 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, UZ Brussel VUB, Brussels, Belgium.
Research and Clinical Institute of Pediatrics, Pirogov Russian National Research Medical University, Moscow, Russia.
Front Neurol. 2019 Aug 2;10:821. doi: 10.3389/fneur.2019.00821. eCollection 2019.
The onset and growth of subependymal giant cell astrocytoma (SEGA) in tuberous sclerosis complex (TSC) typically occurs in childhood. There is minimal information on SEGA evolution in adults with TSC. Of 2,211 patients enrolled in TOSCA, 220 of the 803 adults (27.4%) ever had a SEGA. Of 186 patients with SEGA still ongoing in adulthood, 153 (82.3%) remained asymptomatic, and 33 (17.7%) were reported to ever have developed symptoms related to SEGA growth. SEGA growth since the previous scan was reported in 39 of the 186 adults (21%) with ongoing SEGA. All but one patient with growing SEGA had mutations in . Fourteen adults (2.4%) were newly diagnosed with SEGA during follow-up, and majority had mutations in . Our findings suggest that surveillance for new or growing SEGA is warranted also in adulthood, particularly in patients with mutations in .
室管膜下巨细胞星形细胞瘤（SEGA）在结节性硬化症（TSC）中的发病和生长通常发生在儿童期。关于成人TSC患者中SEGA演变的信息极少。在TOSCA研究纳入的2211例患者中，803例成人患者中有220例（27.4%）曾患SEGA。在成年期仍患有SEGA的186例患者中，153例（82.3%）无症状，33例（17.7%）曾有与SEGA生长相关的症状。在186例仍患有SEGA的成年患者中，39例（21%）报告自上次扫描以来SEGA有生长。除1例患者外，所有SEGA生长的患者均有 突变。14例成人（2.4%）在随访期间新诊断为SEGA，大多数有 突变。我们的研究结果表明，在成年期也有必要对新发或生长的SEGA进行监测，特别是对有 突变的患者。 （注：原文中“in ”和“in ”处缺失具体基因信息）
