Tuberous Sclerosis Complex Associated with Papillary Serous Carcinoma of the Peritoneum, Lymphangioleiomyomatosis, and Angiomyolipoma

Review of renal artery embolization for treatment of renal angiomyolipoma

Renal angiomyolipoma (AML) is a benign renal neoplasm with the exception of the rare epithelioid variant. AML may be sporadic or may be associated with tuberous sclerosis complex or pulmonary lymphangioleiomyomatosis. Risk of hemorrhage is the concern for patients with AML. Renal artery embolization (RAE) is the treatment of choice for acute hemorrhage from angiomyolipoma, and also firstline pr...

Pulmonary Lymphangiomyomatosis Associated with Renal and Hepatic Angiomyolipoma Mass in a Patient with Tuberous Sclerosis Complex

Re: everolimus for angiomyolipoma associated with tuberous sclerosis complex or sporadic lymphangioleiomyomatosis (EXIST-2): a multicentre, randomised, double-blind, placebo-controlled trial.

BACKGROUND Angiomyolipomas are slow-growing tumours associated with constitutive activation of mammalian target of rapamycin (mTOR), and are common in patients with tuberous sclerosis complex and sporadic lymphangioleiomyomatosis. The insidious growth of these tumours predisposes patients to serious complications including retroperitoneal haemorrhage and impaired renal function. Everolimus, a r...

13-year-old tuberous sclerosis patient with renal cell carcinoma associated with multiple renal angiomyolipomas developing multifocal micronodular pneumocyte hyperplasia

UNLABELLED BACKGROUND The autosomal dominant tumor syndrome tuberous sclerosis complex is caused by the mutated TSC1 gene, hamartin, and the TSC2 gene, tuberin. Patients with this complex develop typical cutaneus symptoms such as peau chagrin or angiofibromas of the skin as well as other lesions such as astrocytomas in the brain and lymphangioleiomyomatosis in the lung. Only a few tuberous s...

Analysis of a Mouse Skin Model of Tuberous Sclerosis Complex

Tuberous Sclerosis Complex (TSC) is an autosomal dominant tumor suppressor gene syndrome in which patients develop several types of tumors, including facial angiofibroma, subungual fibroma, Shagreen patch, angiomyolipomas, and lymphangioleiomyomatosis. It is due to inactivating mutations in TSC1 or TSC2. We sought to generate a mouse model of one or more of these tumor types by targeting deleti...