Outpatient clinic hereditary melanoma (FAMMM)

Melanoma is a type of skin cancer that originates in the pigment-forming cells (melanocytes) of the skin, including moles. Every year approximately 5000 people in the Netherlands develop melanoma. It is the most common form of cancer in men between 25 and 29 years old, and about 10% of melanoma patients also have one or more close relatives with melanoma. When melanoma occurs in a family it is called FAMMM Syndrome (Familial Atypical Multiple Mole/Melanoma syndrome). After breast and colorectal cancer, melanoma is the most common form of inherited cancer.

FAMMM syndrome is often caused by a change (mutation) in the CDKN2A gene. In the Netherlands a specific gene mutation in the CDKN2A gene is common, a specific variant referred to as ‘p16-Leiden’. Individuals with the p16-Leiden variant have a high risk of developing melanoma at some time during their life (70% probability). Furthermore, in these individuals melanoma is often discovered at a relatively young age. Carriers of the p16-Leiden mutation also have an increased risk of pancreatic cancer (20% probability).

Periodic check-ups
Individuals with FAMMM syndrome are advised to undergo an annual skin examination by a dermatologist from the age of 12. This includes those in whom the p16-Leiden mutation could not be identified, but who have close relatives with melanoma. Periodic check-ups for pancreatic cancer are only offered to carriers of the specific p16-Leiden mutation. These check-ups take place at the Department of Gastroenterology and Hepatology and involve an annual MRI of the abdomen (possibly in combination with ultrasound endoscopy) from the age of 45. The clinical geneticist or genetic counsellor will discuss this and other advice with you and arrange for a referral.

Multidisciplinary team
The LUMC has assembled a multidisciplinary team for this condition consisting of clinical geneticists (including Dr. F.J. Hes), dermatologists (including Prof. Dr. W. Bergman, Dr. R. van Doorn), and gastroenterologists (including Prof. Dr. H.F.A. Vasen).

Patient association
The Melanoma Foundation represents the interests of patients with melanoma and their families nationwide. For information and/or to register with the patient association https://www.kanker.nl/organisaties/stichting-melanoom

You can also find reliable information on genetic disorders at http://www.erfelijkheid.nl/. This website is also very useful for medical professionals.

Some people with FAMMM syndrome may not have a mutation in the CDKN2A gene. Our department is currently investigating which other gene defects play a role in hereditary melanoma, and what the specific risks of melanoma and other cancers are for these gene defects. In the future we expect that more genes than are currently possible will be investigated in people with FAMMM syndrome, and that improved advice will be available regarding regular check-ups.