Overview
MITF-related melanoma and renal cell carcinoma predisposition syndrome is a rare inherited condition that increases a person's risk of developing two specific types of cancer: melanoma (a serious form of skin cancer) and renal cell carcinoma (a type of kidney cancer). This syndrome is caused by a change (mutation) in the MITF gene, which normally plays an important role in the development and function of certain cells, including pigment-producing cells in the skin (melanocytes) and cells in the kidneys. The most well-known mutation associated with this condition is called p.E318K. People with this syndrome do not necessarily develop cancer, but they have a significantly higher lifetime risk compared to the general population. Melanoma may appear as an unusual or changing mole on the skin, while kidney cancer may cause symptoms such as blood in the urine, flank pain, or may be found incidentally on imaging. Some individuals may also have lighter skin or hair coloring, or an increased number of moles (nevi), which can serve as early clues. There is no single cure for this predisposition syndrome itself, but early detection and regular screening are the cornerstones of management. When melanoma or kidney cancer is caught early, treatment outcomes are generally much better. Treatment depends on the type and stage of cancer and may include surgery, immunotherapy, targeted therapy, or radiation. Genetic counseling is strongly recommended for affected individuals and their family members to understand their risks and plan appropriate surveillance.
Also known as:
Key symptoms:
New or changing moles on the skinUnusual-looking moles (irregular shape, color, or borders)Increased number of moles on the bodyMelanoma (skin cancer)Kidney cancer (renal cell carcinoma)Blood in the urinePain in the side or lower backA lump or mass in the kidney areaLighter skin or hair color than expected for familyUnexplained weight lossFatigue
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Adult
Begins in adulthood (age 18 or older)
FDA & Trial Timeline
8 eventsZhejiang University — PHASE1
Merck Sharp & Dohme LLC — PHASE2
UNICANCER — PHASE3
Daiichi Sankyo — PHASE1
GAVRETO®: FDA approved
treatment of adult patients with metastatic RET fusion-positive non-small cell lung cancer (NSCLC) as detected by an FDA approved test
Exelixis — PHASE1
National Cancer Institute (NCI)
Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
1 availableGAVRETO�
treatment of adult patients with metastatic RET fusion-positive non-small cell lung cancer (NSCLC) as detected by an FDA approved test
Specialists
View all specialists →No specialists are currently listed for MITF-related melanoma and renal cell carcinoma predisposition syndrome.
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to MITF-related melanoma and renal cell carcinoma predisposition syndrome.
Community
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.What is my specific lifetime risk of developing melanoma or kidney cancer with this MITF mutation?,How often should I have skin examinations and kidney imaging, and what type of imaging is best?,Should my family members be tested for the MITF mutation, and at what age should testing begin?,Are there specific sun protection measures or lifestyle changes that can reduce my cancer risk?,What symptoms should prompt me to seek immediate medical attention between scheduled screenings?,Are there any clinical trials or research studies I could participate in related to this condition?,Should I be screened for any other types of cancer beyond melanoma and kidney cancer?
Common questions about MITF-related melanoma and renal cell carcinoma predisposition syndrome
What is MITF-related melanoma and renal cell carcinoma predisposition syndrome?
MITF-related melanoma and renal cell carcinoma predisposition syndrome is a rare inherited condition that increases a person's risk of developing two specific types of cancer: melanoma (a serious form of skin cancer) and renal cell carcinoma (a type of kidney cancer). This syndrome is caused by a change (mutation) in the MITF gene, which normally plays an important role in the development and function of certain cells, including pigment-producing cells in the skin (melanocytes) and cells in the kidneys. The most well-known mutation associated with this condition is called p.E318K. People with
How is MITF-related melanoma and renal cell carcinoma predisposition syndrome inherited?
MITF-related melanoma and renal cell carcinoma predisposition syndrome follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does MITF-related melanoma and renal cell carcinoma predisposition syndrome typically begin?
Typical onset of MITF-related melanoma and renal cell carcinoma predisposition syndrome is adult. Age of onset can vary across affected individuals.
Are there clinical trials for MITF-related melanoma and renal cell carcinoma predisposition syndrome?
Yes — 6 recruiting clinical trials are currently listed for MITF-related melanoma and renal cell carcinoma predisposition syndrome on UniteRare. See the clinical trials section on this page for phase, sponsor, and site details sourced from ClinicalTrials.gov.
What treatment and support options exist for MITF-related melanoma and renal cell carcinoma predisposition syndrome?
1 patient support program are currently tracked on UniteRare for MITF-related melanoma and renal cell carcinoma predisposition syndrome. See the treatments and support programs sections for copay assistance, eligibility, and contact details.