About This Clinic

The Von Hippel-Lindau (VHL) and High Risk Renal Clinic at Huntsman Cancer Institute (HCI) is for people who may have an increased risk for kidney cancer due to genetic mutations or a family history of renal cancer. The purpose of this clinic is to create a personal screening plan and help schedule any follow-up care for people at high risk for renal cancer.

People with these conditions have an increased risk for renal cancer:

If you have one of these genetic conditions, you may also have an increased risk for other cancers, tumors, or skin issues. We can recommend many options to screen for and help detect these cancers or tumors early.

If you or a family member think you may have one of these conditions and would like to learn more, please call or email us to get in touch with a genetic counselor and genetics nurse.

801-587-9555  |  VHLClinic@hci.utah.edu

Von Hippel-Lindau (VHL)

VHL is a condition that affects 200,000 people in the United States. People with VHL have an increased risk for certain types of tumors and cancer:

  • Hemangioblastomas of the brain and spine
  • Kidney cancer
  • Pheochromocytomas
  • Retinal angiomas
  • Pancreas tumors
  • Other tumors throughout the body

The VHL Alliance is an international resource for VHL patients, caregivers, and medical professionals. It designated Huntsman Cancer Institute (HCI) as a VHL Comprehensive Care Center. This means HCI has the clinicians, imaging, and surgical expertise to best treat VHL patients.

VHL patients often see many different specialists, which can result in many appointments and conflicting recommendations. Our VHL and High Risk Renal Clinic is a central place where patients can get all the screening and treatment they need as efficiently as possible. Our specialists meet and communicate on a regular basis to ensure patients get the best care and treatment while considering the patient’s overall health and personal life.

Screening for VHL varies by age and may include these tests and exams:

  • Eye/retina exams
  • Hearing tests
  • Blood pressure measurement
  • Imaging of the brain, spine, and abdomen

We can also connect interested patients with research studies and clinical trials.

Birt-Hogg-Dube Syndrome

Birt-Hogg-Dube (BHD) syndrome is a rare condition that affects the skin, lungs, and kidneys. People with BHD are at an increased risk for both cancerous and noncancerous (benign) tumors. BHD signs and symptoms vary from person to person.

People with BHD may have multiple benign skin tumors called fibrofolliculomas, acrochordons, angiofibromas, oral papules, cutaneous collagenomas, and epidermal cysts. These typically develop when a person is in their twenties or thirties. Most people with BHD will have some of these findings by the time they reach their forties.

Pulmonary cysts or pneumothoraces (collapsed lungs) are common in adults with BHD. People with BHD also have an increased risk for cancerous and noncancerous kidney tumors. Other types of cancers have been reported in people with BHD, but it is not clear whether they are related to BHD syndrome.

Surveillance for BHD includes full skin exams and abdominal/pelvic MRI.

BHD is caused by mutations in the FLCN gene. Parents, siblings, and children of someone with BHD each have a 50% chance of having the mutation and also having BHD.

Hereditary Leiomyomatosis and Renal Cell Cancer

Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a condition where tumors develop in smooth muscle tissue in the skin and uterus. This condition also increases the risk for kidney cancer.

People with HLRCC may have one or more of these kinds of tumors:

  • Cutaneous leiomyomas (skin tumors). These usually develop around age 30 and increase in size and number with age.
  • Uterine leiomyomas (fibroids). These may develop around 18–53 years of age. They tend to be numerous and large. Symptoms include irregular or heavy periods and pelvic pain.
  • Renal tumors (tumors in the kidney). These typically develop around age 40 and may be cancerous.
  • Paragangliomas. These are typically benign tumors in the head, neck, or torso.
  • Pheochromocytomas. These are a type of paraganglioma that develop in the adrenal glands on top of each kidney.

Surveillance for HLRCC includes full skin exams, gynecologic exams, and MRI of the kidney.

HLRCC is caused by mutations in the FH gene. Parents, siblings, and children of someone with HLRCC each have a 50% chance of having the mutation and also having HLRCC.

Hereditary Papillary Renal Cell Carcinoma

Hereditary papillary renal cell carcinoma (HPRCC) is a rare condition that increases the risk for tumors called type I papillary renal cell carcinomas. These tumors may occur in one or both kidneys (also called bilateral kidney tumors).

HPRCC is caused by a mutation in the MET gene. Parents, siblings, and children of someone with HPRCC each have a 50% chance of having the mutation and also having HPRCC.

Surveillance for HPRCC includes screening of the kidneys to find cancer early.

BAP1-Tumor Predisposition Syndrome

BAP1-tumor predisposition syndrome (BAP1-TPDS) is a condition that increases the risk of these cancerous and noncancerous tumors:

  • Atypical Spitz tumors
  • Uveal (eye) melanoma
  • Malignant mesothelioma
  • Cutaneous (skin) melanoma
  • Renal cell carcinoma
  • Basal cell carcinoma

Surveillance for BAP1-TPDS includes these exams:

  • Eye exams by an ocular oncologist
  • Physical exam
  • Abdominal ultrasound (abdominal MRI can be considered for kidney cancer and malignant mesothelioma screening)
  • Annual full-body dermatology exams

Parents, siblings, and children of someone with BAP1-TPDS each have a 50% chance of having inherited the mutation and also having BAP1-TPDS.

Frequently Asked Questions

Who can visit the VHL and High Risk Renal Clinic?

The Von Hippel-Lindau (VHL) and High Risk Renal Clinic is for people ages 18 and up who can answer yes to one or more of these:

  • Had genetic tests showing a cancer-related gene mutation in one of these genes: BAP1, FH, FLNC, MET, VHL
    • If your genetic tests show mutations other than these, our genetic counselors can help decide if this clinic is right for you. Please call 801-587-9555.
  • Have a strong family history of renal cancer
    • A first-degree relative (parent, sibling, or child) diagnosed with renal cancer at a young age (for example, under age 50)
    • Two or more first- or second-degree relatives with renal cancer

When I visit the clinic, what will I do?

  • Review your personal and family health history and lifestyle factors that may add to renal cancer risk.
  • Review any previous imaging from HCI or an outside facility
  • Get a physical exam by a doctor.
  • Talk with a clinic team member about your personal screening plan and follow-up care based on your test results.
  • Talk with a doctor or genetic counselor about the chance to take part in a research study about renal cancer risk.

Do I need genetic testing before I come?

You may qualify for this clinic if you have a strong family history of renal cancer. If you have not had genetic testing, our clinic staff may recommend you mewith a genetic counselor before you come to the clinic.

Contact Us

If you or a family member would like to learn more, please call us to get in touch with a genetic counselor: 801-587-9555