Tuberous sclerosis complex: the past and the future

Abstract

Renal lesions represent the second most significant cause of morbidity and mortality in patients with tuberous sclerosis complex (TSC). Recent advances in the understanding of the pathophysiology of TSC have led to the exploration of new potential therapeutic targets. Clinical trials with mammalian target of rapamycin (mTOR) inhibitors have demonstrated promising results for several indications, such as renal angiomyolipoma, subependymal giant cell astrocytoma, lymphangioleiomyomatosis and facial angiofibromas. Currently, there is a scarcity of natural history data and randomized, placebo-controlled clinical trials on TSC. Recently, however, recommendations for the diagnostic criteria, surveillance, and management of TSC patients have been updated. This review focuses on these novel recommendations and highlights the need for multidisciplinary follow-up of this multi-systemic disease.

Imaging of tuberous sclerosis complex: a pictorial review

“…Cardiac rhabdomyoma is a benign striated muscle tumor and the most common cardiac tumor in children (4,5,13) . It occurs in about 60% of children, but only 20% of adults, with TSC (4,5,13,14) .…”

“…It occurs in about 60% of children, but only 20% of adults, with TSC (4,5,13,14) . Most rhabdomyomas are asymptomatic, with a minority of patients experiencing arrhythmia and/or cardiac failure (1,5) .…”

“…AMLs are found in70-80% of patients with TSC (4,5,13-15) . The most alarming complication of renal AMLs is rupture, due to their abnormal vasculature, associated frequently with aneurysms (2,13,14) (Figure 6). CT permits the diagnosis of renal AML by demonstrating the presence of intratumoral fat (Figure 7).…”

“…Renal cell carcinoma (RCC) is a rare manifestation in patients with TSC, with an estimated incidence of 2-4%, which is nonetheless higher than in the general population (1,13,15,16) . Imaging findings depend on RCC subtype.…”

Tuberous sclerosis complex: imaging the pieces of the puzzle

“…It affects approximately 1 in 6,000 individuals, regardless of race or ethnicity (1) . During the 1990s, more than 300 allelic variants of the TSC1 gene were reported, as were more than 1,000 allelic variants of the TSC2 gene.…”