“…Germ-line mutations in TSC1 and TSC2 predispose to TSC (Consortium, 1993;van Slegtenhorst et al, 1997), which is characterized by the development of widespread hamartomas in several organs including brain (cortical tubers and subependymal glial nodules), kidneys (angiomyolipomas, AML), skin ((angio) fibromas), heart (rhabdomyomas) and lungs (lymphangioleiomyomatosis (LAM)) ( Table 1). In addition, these patients develop early onset brain cancer (subependymal giant cell astrocytomas (SEGAs)) and different types of renal cancer (Table 1) (Schwartz et al, 2007;Curatolo et al, 2008;Ess, 2010). Notably, LAM also occurs sporadically, owing to somatic mutations in the TSC genes, and is associated with renal AML in B50% of these cases (Carsillo et al, 2000).…”