Clinical history: 38 year old Female with incidental renal mass found on ultrasound.
What is the most probable diagnosis?
This is a benign tumour consisting of vessels, smooth muscle, and fat. HMB45 and MelanA are positive in fat > smooth muscle > blood vessel components in 100% of these tumours. Angiomyolipomas are present in 25% to 50% of patients with tuberous sclerosis a disease caused by loss-of function mutations in the TSC1 or TSC2 tumour suppressor genes. It is characterized by lesions of the cerebral cortex that produce epilepsy and mental retardation, a variety of skin abnormalities, and unusual benign tumours at other sites, such as the heart. The clinical importance of angiomyolipoma is due largely to their susceptibility to spontaneous hemorrhage.