A New Treatment for Tumors in Tuberous Sclerosis Complex?

The tumor and tumor-like neurocutaneous lesions of tuberous sclerosis complex (TSC) result from inappropriate constitutive activation of the mammalian target of rapamycin (mTOR), a protein kinase that regulates protein synthesis and cell growth and proliferation. Mutations in either the TSC1 or TSC2 gene result in defective function of the hamartin-tuberin tumor suppressor complex, which restricts mTOR activation. Small preliminary studies suggest efficacy of mTOR inhibition in decreasing the size and number of TSC lesions.

This multicenter, manufacturer-funded study aimed to establish efficacy of an mTOR inhibitor, everolimus, in reducing the volume of subependymal giant cell astrocytomas (SEGAs), a slow-growing type of tumor common in TSC …