Jóźwiak Sergiusz, Mandera Marek, Młynarski Wojciech
Department of Pediatric Neurology, Medical University of Warsaw, Warsaw, Poland.
Department of Pediatric Neurosurgery, Medical University of Silesia, Katowice, Poland.
Semin Pediatr Neurol. 2015 Dec;22(4):274-81. doi: 10.1016/j.spen.2015.10.003. Epub 2015 Oct 21.
Subependymal giant cell astrocytoma (SEGA) is a benign brain tumor associated with tuberous sclerosis complex (TSC). Since there were some discrepancies in SEGA classification, in 2012, a consensus statement defined SEGA as a lesion at the caudothalamic groove with either a size of more than 1cm in any direction or a subependymal lesion at any location that has shown serial growth on consecutive imaging regardless of size. This pointed that the documented tumor growing is an important diagnostic feature. Currently, there are 2 therapeutic options: surgical and medical with mammalian target of rapamycin (mTOR) inhibitors. Neurosurgery should consider a localization and size of the tumor, presence of hydrocephalus and surgeon's experience. Patients who are not qualified for surgery and require therapeutic intervention are subjected to mTOR inhibitors therapy. Everolimus, one of the mTOR inhibitors, has been recently approved in the US and Europe for treatment of patients with TSC and SEGA. Treatment with everolimus results in a rapid initial reduction in tumor volume, followed by a phase of slower reduction or stabilization of residual mass. mTOR inhibitor dose de-escalation strategy seems to be also logical in long-term SEGA treatment to reduce the risk of adverse effects while maintaining the therapeutic effect. However, duration of the treatment and the efficacy of dose reduction are still questionable. Thus, this review covers the various approaches that are currently being made toward improving the outcome of management of SEGA among patients with TSC.
室管膜下巨细胞星形细胞瘤（SEGA）是一种与结节性硬化症（TSC）相关的良性脑肿瘤。由于SEGA的分类存在一些差异，2012年，一份共识声明将SEGA定义为尾丘脑沟处的病变，其在任何方向上的大小超过1cm，或者是在任何位置的室管膜下病变，无论大小，在连续成像中显示出连续生长。这表明记录到的肿瘤生长是一个重要的诊断特征。目前有两种治疗选择：手术治疗和使用雷帕霉素哺乳动物靶点（mTOR）抑制剂的药物治疗。神经外科手术应考虑肿瘤的定位和大小、脑积水的存在以及外科医生的经验。不适合手术且需要治疗干预的患者接受mTOR抑制剂治疗。依维莫司是mTOR抑制剂之一，最近已在美国和欧洲被批准用于治疗TSC和SEGA患者。依维莫司治疗可使肿瘤体积迅速初步缩小，随后是残余肿块缩小或稳定的较慢阶段。在长期SEGA治疗中，mTOR抑制剂剂量递减策略似乎也是合理的，以降低不良反应风险同时维持治疗效果。然而，治疗持续时间和剂量减少的疗效仍存在疑问。因此，本综述涵盖了目前为改善TSC患者中SEGA管理结果而采取的各种方法。
