Hereditary leiomyomatosis and renal cell carcinoma


Hereditary leiomyomatosis and renal cell carcinoma is rare disorder associated with benign smooth muscle tumors and an increased risk of renal cell carcinoma.

Cause

HLRCC is an autosomal dominant condition caused by a mutation in the FH gene, which results in dysfunction of the citric acid cycle, leading to an accumulation of fumarate.

Signs and symptoms

People affected with HLRCC develop leiomyomas, smooth muscle growths or tumors, in the skin and uterus. These growths increase in size and number throughout the lifetime.
People with HLRCC have an approximately 15% chance of developing renal cell carcinoma in their lifetime. This is most commonly type II papillary renal cell carcinoma which is an aggressive form.

Treatment

Leiomyomas do not typically require treatment unless they cause pain.

Epidemiology

HLRCC affects males and females equally. Thus far, HLRCC has been found in 300 families worldwide.

Other hereditary renal cancer syndromes