Hereditary form of RCC best treated aggressively, study shows

An inherited syndrome known as hereditary leiomyomatosis and renal cell cancer (HLRCC) has a more aggressive clinical course than other hereditary renal cancer syndromes, according to a new study. The authors recommend surgical therapy early in the course of treatment of HLRCC patients rather than expectant management.

Unlike other types of inherited kidney cancer, HLRCC can spread early, even when tumors are as small as 2 cm, according to study author W. Marston Linehan, MD, chief of urologic surgery at the National Cancer Institute, Bethesda MD.

During a presentation yesterday, Dr. Linehan and colleagues reported on 19 subjects with HLRCC-associated kidney cancer. Fifteen had radical nephrectomy; and four had partial nephrectomy.

Nine of the 19 subjects (47%) presented with nodal or distant metastases. Three of the 19 died of their disease, and four patients with localized disease developed metastases at the median 31.5-month follow-up.

Dr. Linehan suggests that urologists consider genetic testing when patients present with early-onset or bilateral kidney cancer to help determine if they are affected with HLRCC.

The gene that causes HLRCC is the Krebs cycle enzyme, fumarate hydratase (FH), and an FH germ line mutation analysis is available for families at risk for HLRCC. Studies are underway to understand how alteration of the FH gene in HLRCC leads to kidney cancer. The research will provide the foundation for development of disease-specific therapies for this malignancy.