Tuberous Sclerosis (TSC1, TSC2)
Tuberous Sclerosis Complex (TSC1, OMIM 191100; TSC2, OMIM 613254) affects multiple organ systems including the skin (hypomelanotic macules, facial angiofibromas, shagreen patches, fibrous facial plaques, ungual fibromas), brain (cortical tubers, astrocytomas, seizures, intellectual disability/developmental delay), kidney (cysts, renal cell carcinomas), heart (rhabdomyomas, arrhythmias) and lungs (lymphangioleiomyomatosis [LAM]) (Northrup et al., GeneReviews. 2011; ncbi.nlm.nih.gov/books/NBK1220). It affects nearly 1 in 5800 children in the United States (Osborne et al., Ann N Y Acad Sci. 1991; 615:125).
Early detection has proven beneficial by implementing proper therapies and avoidance tactics in patients with Tuberous Sclerosis to decrease the rate of morbidity/mortality (Yates, J., European Journal of Human Genetics. 2006; 14: 1065-1073).
Early detection of TSC may improve the quality of life for children by implementing therapies that slow symptom progression and slow the progression of Autism (Yates, J., European Journal of Human Genetics. 2006; 14: 1065-1073). Many children with TSC develop Autistic Spectrum Disorder which is associated with epilepsy development; however, early Vigabatrin and cognitive behavioral therapy may help to control these complications (Tuberous Sclerosis Alliance, 2013; tsalliance.org).
mTOR Inhibitor Therapy
Studies have shown mTOR inhibitors have been effective in reducing subependymal giant cell astrocytomas (SEGAs), treating angiomyolipomas, skin manifestations, epilepsy, and lung complications (Curatolo and Moavero, Current Neuropharmacology. 2012; 10(4): 404-415). mTOR inhibitors have proven to be superior in shrinking tumor volume by more than fifty percent, and be less invasive and more successful than surgical excision (Robinson, R., Neurology Today. 2013; 13(10): 36-37). Once a tumor grows to 3.5 cm, it is likely to hemorrhage and require intervention making early diagnosis and treatment of mTORs crucial (Northrup et al., GeneReviews. 2011; ncbi.nlm.nih.gov/books/NBK1220).
Since tumors are rarely responsive to radiotherapy and reports suggest that irradiation may induce glioblastomas, this form of therapy should be avoided to prevent complications (Yates, J., European Journal of Human Genetics. 2006; 14: 1065-1073).
For more information on TSC1/TSC2 testing, please see our full Test Description.
This article is a summary of information that has been reported in the biomedical research literature. It is not medical advice for patients. All disease treatments should be under the direction of a qualified healthcare provider.