Zitterbart K
Klin Onkol. 2014;27(6):401-5. doi: 10.14735/amko2014401.
Tuberous sclerosis complex is a neurocutaneous syndrome that results from a germline mutation in TSC1 or TSC2 genes. The pathogenic activation of mTORC1 leads to the development of subependymal giant cell astrocytomas in patients with tuberous sclerosis complex. Blocking of the dysregulated pathway with mTOR inhibitors has the potential to reduce the volume of this low-grade brain tumor. This article reviews the current knowledge on the pharmacological treatment of subependymal giant cell astrocytomas. A longterm followup and early therapeutic intervention should lead to mortality and morbidity reduction and quality of life improvement in patients with tuberous sclerosis complex associated tumors.
结节性硬化症是一种神经皮肤综合征，由TSC1或TSC2基因的种系突变引起。mTORC1的致病性激活导致结节性硬化症患者发生室管膜下巨细胞星形细胞瘤。用mTOR抑制剂阻断失调的信号通路有可能减小这种低级别脑肿瘤的体积。本文综述了目前关于室管膜下巨细胞星形细胞瘤药物治疗的知识。长期随访和早期治疗干预应能降低结节性硬化症相关肿瘤患者的死亡率和发病率，并改善其生活质量。
