The Familial RCC and VHL Disease clinical program is under the directorship of Dr. Othon Iliopoulos, MD, a medical oncologist and researcher focused on the biological basis of renal (kidney) cancer and other types of tumors. New patients meet with a genetic counselor and Dr. Iliopoulos for evaluation of renal cancer susceptibility and medical care.

Examples of indications for a referral to the clinic include a personal and/or family history involving one or more of the following:

  • Renal cell carcinoma (RCC)
  • Hemangioblastoma (a specific type of benign tumor seen in the brain, spine, or retina)
  • Pheochromocytoma or paraganglioma
  • Multiple fibrofolliculomas, trichodiscomas or cutaneous leiomyomas (types of benign skin lesions)
  • Pancreatic neuroendocrine tumor

For more detail, please reference our referral guide.

The syndromes frequently discussed at an appointment in this clinic are listed below, along with common features frequently seen in these conditions.

  • von Hippel-Lindau disease (VHL): 
  • Birt-Hogg-Dube syndrome (BHD): fibrofolliculoma/trichodiscoma, RCC, spontaneous pneumothorax
  • Hereditary Leiomyomatosis and Papillary RCC (HLRCC): cutaneous leiomyoma, multiple uterine fibroids, RCC (exclusively papillary type)
  • Hereditary Papillary RCC (HPRCC): RCC papillary type
  • Hereditary Pheochromocytoma/Paraganglioma: pheochromocytoma of the adrenal gland, paraganglioma (head, neck, chest, abdomen)

In addition to providing 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 Family Alliance. The Familial RCC and VHL Disease clinic is held twice per month at the Yawkey Building, Suite 7E, 55 Fruit St, Boston. Appointments can be scheduled by calling (617) 724-1971.

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