Subependymal Giant Cell Astrocytomas in Patients With Tuberous Sclerosis Complex:

Abstract

Tuberous sclerosis complex is a genetic disorder caused by mutations in either the TSC1 or TSC2 gene that can result in the growth of hamartomas in multiple organ systems. Subependymal giant cell astrocytomas are slow-growing brain tumors associated primarily with tuberous sclerosis complex. They are usually located in the ventricles, often near the foramen of Monro, where they can cause an obstruction if they grow too large, leading to increased intracranial pressure. Surgery to remove a tumor has been the mainstay of treatment but can be associated with postoperative morbidity and mortality. Not all tumors and/or patients are suitable for surgery. The recent development of mammalian target of rapamycin inhibitors that target the pathway affected by TSC1/TSC2 mutations offers a novel pharmacotherapeutic option for these patients. We review the timing and use of surgery versus pharmacotherapy for the treatment of subependymal giant cell astrocytoma in patients with tuberous sclerosis complex.

Maintenance therapy with everolimus for subependymal giant cell astrocytoma in patients with tuberous sclerosis (the EMINENTS study)

“…Everolimus is an mTOR (mammalian target of rapamycin) inhibitor, recently approved in the United States by the Food and Drug Administration and in Europe by the European Medicines Agency for the treatment of patients with tuberous sclerosis (TSC) complex and subependymal giant cell astrocytoma (SEGA) who require therapeutic intervention, but whose tumors cannot be curatively resected . TSC is a genetic disorder in which mutation of TSC1 or TSC2 gene leads to an increased activation of the mTOR1/AKT pathway.…”

Perinatal (fetal and neonatal) astrocytoma: a review

“…Fetal deaths were five times greater than neonatal. Treatment of SEGA is discussed in detail elsewhere [92]. …”

Factors affecting response to everolimus therapy for subependymal giant cell astrocytomas associated with tuberous sclerosis

“…Everolimus is an mTOR inhibitor that was recently approved for the treatment of patients with TSC-related SEGA that cannot be curatively resected and who require therapeutic intervention [10]. In our center, we found that the response to everolimus treatment is highly variable among patients with TSC with SEGA.…”