Clinical features of angiomyolipomas.
Three types of renal lesions occur in TSC: renal cell carcinomas (which is uncommon), renal cysts (which can resemble polycystic kidney disease), and angiomyolipomas, which are usually multiple and bilateral. Angiomyolipomas are composed of smooth muscle cells, thick-walled vessels and adipose tissue, causing pain and can spontaneously hemorrhage, with life-threatening consequences.
Current treatment of TSC.
Pivotal clinical trials have demonstrated that the mTORC1 inhibitors sirolimus (Rapamycin) and its analog, everolimus (Afinitor) decrease the size of angiomyolipomas in TSC, but the angiomyolipomas regrow when treatment is stopped. Therefore, continuous, life-long therapy appears to be required.
Role of the Henske Lab in angiomyolipoma research.
Our research is focused on identifying therapeutic strategies to eliminate, rather than suppress, tumor cells in TSC. This is among the highest priorities in the TSC field, since it would decrease the need for continuous, lifelong therapy with Rapamycin or everolimus.