About subependymal giant cell astrocytoma (SEGA) tumors and tuberous sclerosis complex (TSC)
Tuberous sclerosis complex (TSC) is also called tuberous sclerosis (TS). TSC is a genetic disorder that can affect various parts of the body, including the kidneys, brain, heart, lungs and skin. Subependymal giant cell astrocytoma (SEGA) is a non-cancerous brain tumor that is associated with TSC. Despite being non-cancerous, SEGA tumors can pose a threat to your health if they start to grow or if they block fluid movement in your brain, potentially leading to headaches and vision problems.
Patients diagnosed with TSC, which affects up to 2 million people worldwide, may experience a variety of resulting disorders, including skin lesions, kidney disease, developmental delays, seizures and behavioral issues.
Treatment of SEGA tumors and TSC
The treatment you may receive for SEGA associated with TSC includes therapies that inhibit mTOR, a protein that regulates division of the tumor cell, growth of the blood vessel and metabolism of the cell. Patients who have TSC have defects in their TSC1 and/or TSC2 genes. Defects in these genes mean mTOR activity is increased, and this can cause uncontrolled growth and proliferation of the tumor cell, growth of the blood vessel, and altered metabolism of the cell. Treatment with everolimus inhibits mTOR activity and may reduce proliferation of the cell, growth of the blood vessel and glucose uptake related to SEGA associated with TSC.