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  • Title: Pharmacological treatment strategies for subependymal giant cell astrocytoma (SEGA).
    Author: Ebrahimi-Fakhari D, Franz DN.
    Journal: Expert Opin Pharmacother; 2020 Aug; 21(11):1329-1336. PubMed ID: 32338549.
    Abstract:
    INTRODUCTION: Subependymal ependymal giant cell astrocytomas (SEGAs) occur almost exclusively in the setting of tuberous sclerosis (TSC). They are low-grade gliomas which typically produce clinical symptoms through either mass effect or hydrocephalus. As do other manifestations of tuberous sclerosis, these lesions result from mutations in either the TSC1 or the TSC2 gene. These mutations cause hyperactivation of the mechanistic target of rapamycin (mTOR). In view of their tendency to grow slowly, clinical symptoms usually only occur when the tumors reach a considerable size. Therapy can involve surgical resection, cerebrospinal fluid diversion, or medical therapy with an mTOR inhibitor. AREAS COVERED: Herein, the authors discuss the diagnosis, symptoms, and practical management of SEGAs as well as providing their expert opinion. EXPERT OPINION: mTOR inhibitors have largely replaced surgery as the primary modality for the management of SEGAs. Surgical treatment is largely limited to tumors that present with acute hydrocephalus and increased intracranial pressure. Patients with TSC should undergo periodic screening with CT or preferably MRI scans of the brain from childhood to approximately age 25 to identify SEGAs which require treatment. In addition to avoiding potential morbidity associated with surgical resection, mTOR inhibitors have the potential to improve the clinical status of tuberous sclerosis patients generally.
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