Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disorder characterized by the systemic growth of benign, noninvasive legions. SEGAs, which are slow-growing glioneural tumors that develop near the foramen of Monro, usually develop before the age of 20 years and represent a significant morbidity and mortality burden in children and adolescents with TSC.
The current standard of treatment for symptomatic SEGA is surgical resection of lesions. Asymptomatic SEGAs with growth can be treated with either surgery or therapy with the mTOR inhibitor everolimus. Because mTOR inhibition is the first pharmacotherapeutic alternative to surgery, it is important that clinicians be educated about its benefits and applications, thereby potentially improving patient quality of life and survival. Additionally, Wang and colleagues noted, “Prompt identification and treatment of seizures is an important focus in the overall management of tuberous sclerosis complex patients.” Everolimus and cannabidiol are being studied for the management of TSC-associated seizures.
Given the rarity of the disease, clinicians may not be fully aware of SEGA associated with TSC, its clinical manifestations and molecular basis, or the current guidelines for diagnosis and treatment. Similarly, clinicians may not be up to date about the emerging treatment strategies for SEGA or appreciate their utility for those with TSC. As new therapies are approved, clinicians must be prepared to confidently use these agents, especially in treating a disease such as TSC, where new approaches and tools are desperately needed to improve patient outcomes in all of the TSC-related clinical manifestations.
This activity aims to close educational gaps and provide clinicians with up-to-date knowledge about current and emerging treatment strategies to make informed clinical choices to confidently treat and manage SEGA associated with TSC.