Familial Renal Cell Carcinoma & VHL Disease Program

Overview

The Familial Renal Cell Carcinoma and von Hippel-Lindau Disease Program helps to identify and provide comprehensive, coordinated medical care for families that have a hereditary renal (kidney) cancer syndrome. The program is led by Othon Iliopoulos, MD, a medical oncologist and researcher focused on the biological basis of renal (kidney) cancer and other types of tumors.

Patients with pathogenic variants in hereditary renal cancer genes are managed comprehensively with our team of physicians and genetic counselors. We also provide risk assessment for patients interested in an evaluation for hereditary renal cancer. During the initial genetics consultation, family history is carefully reviewed. If your personal or family history suggests a possible genetic risk, we will discuss the option of genetic testing.

Should You Consider Genetic Counseling?

Our program is appropriate for any individual that has a pathogenic variant in a renal cancer predisposition gene. It may also be right for you if you have a personal or family history of one or more of the following:

• Renal cell carcinoma (RCC): Cancer of the kidney
• Hemangioblastoma: A specific type of benign (non-cancerous) tumor seen in the brain, spine or retina
• Pheochromocytoma: A neuroendocrine tumor of the adrenal gland
• Paraganglioma: A neuroendocrine tumor of the peripheral nervous system in the head, neck, chest or abdomen
• Multiple fibrofolliculomas, trichodiscomas or cutaneous leiomyomas: Types of benign (non-cancerous) skin lesions
• Pancreatic neuroendocrine tumor: A neuroendocrine tumor of the pancreas

Hereditary Kidney Cancer Syndromes

The syndromes most commonly discussed with patients in our program are listed below, along with common features often seen in these conditions.

• Von Hippel-Lindau disease (VHL)
• Birt-Hogg-Dube syndrome (BHD): Fibrofolliculoma/trichodiscoma, kidney cancer, spontaneous pneumothorax (collapsed lung)
• Hereditary Leiomyomatosis and Papillary RCC (HLRCC): Leiomyoma on the skin, multiple uterine fibroids, papillary kidney cancer
• Hereditary Papillary RCC (HPRCC): Papillary kidney cancer
• Hereditary Pheochromocytoma/Paraganglioma

In addition to genetic risk assessment, we also specialize in providing comprehensive medical management for the above hereditary syndromes. We are recognized as a VHL Clinical Care Center by the VHL Alliance.

View our library of fact sheets about inherited cancer risk and genetic testing.