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Subependymal Giant Cell Astrocytoma Associated with Tuberous Sclerosis Complex – Pharmacological Treatment using mTOR Inhibitors

Authors: Zitterbart Karel

Klinicka onkologie Journal. 2014; 27(6): 401-405. 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 long-term follow-up and early therapeutic intervention should lead to mortality and morbidity reduction and quality of life improve ment in patients with tuberous sclerosis complex associated tumors.


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