LMI-05PRELIMINARY EXPERIENCE WITH EVEROLIMUS IN PEDIATRIC PATIENTS WITH MULTIPLE MANIFESTATIONS OF TUBEROUS SCLEROSIS IN BELARUS (CASE-REPORT)

Abstract

Tuberous sclerosis complex (TSC) is a genetic disease caused by overactivation of mechanistic target of rapamycin (mTOR) signaling which leads to the growth of benign tumors in multiple organs. The most common are subependymal giant cell astrocytomas (SEGA) and renal angiomyolipomas. Everolimus was recently approved by the FDA for treatment of SEGA in patients with TSC who are not candidates for surgery. Later, everolimus was also approved for the treatment of angiomyolipoma. We report clinical data of two pediatric patients treated with Everolimus (Afinitor, Novartis): 14-year-old girl with bilateral renal angiomyolipomas and 13-year-old girl with subependymal giant cell astrocytoma in the right hemisphere spreading into the right lateral ventricle, both diagnoses were histologically confirmed. Patients suffer with TSC-associated epilepsy. Initially patients underwent biopsy of the tumors. After biopsy, they were administered everolimus at a dose of 5 mg/m(2) per day. Serum levels of everolimus were consistently measured and were > 5 ng/mL. Magnetic resonance imaging of the brain and abdomen was performed at 3 and 6 months after the start of treatment. Results showed significant regression of tumors in both patients. SEGA volume was reduced by >= 50%, renal angiomyolipomas had reduction by >= 70% from baseline in target lesion. The medication was well-tolerated, there were no adverse events. Additional efficacy was registered in reduction of the overall seizure frequency and improved quality of life. Currently both patients are under treatment with everolimus.