Melanoma
Information developed from NHMRC, Clinical practice guidelines for the management of cutaneous melanoma. http://www.nhmrc.gov.au/publications/synopses/cp68syn.htm
- In Australia, melanoma affects about 1 in 26 men and 1 in 34 women in their lifetime.
- The chance of developing melanoma increases with age, but affects people of all age groups.
- Melanoma is one of the most common forms of cancer in young adults.
- Risk factors for melanoma include:
- A personal history of:
- Melanoma occurring at an early age (median age of onset for familial melanoma is 33 years)
- Multiple primary melanomas
- Large number of naevi (more than 10 on the arms and 200 on the body)
- The presence of multiple atypical (dysplastic) naevi
- A family history of:
- Multiple cases of melanoma on the same side of the family
- Melanoma occurring at an early age
- Ocular melanoma
- Pancreatic carcinoma in more than one family member
Genetics
- An inherited mutation in certain genes is thought to be involved in up to 5% of cases of melanoma.
- Two genes have so far been identified where it is believed that inherited mutations are associated with
a predisposition to melanoma: - CDKN2A codes for proteins that have a central role in controlling the process of cell growth and division. Gene mutations in the CDKN2A gene have been found in approximately 20 to 50% of families in different populations with three or more affected 1° relatives
- CDK4, mutations in which have been found in fewer families with multiple cases of melanoma
- Gene mutations in the CDKN2A and CDK4 genes follow an autosomal dominant pattern of inheritance, meaning that, if a person has a mutated copy of one of these genes, each of their children has a 50% chance of inheriting this gene mutation.
- Inheriting a gene mutation in one of these genes means an individual inherits a predisposition or
susceptibility to melanoma, and the risk of developing melanoma is higher than the population risk. - The indicators that melanoma in a family could be due to an inherited mutation include:
- Three or more 1° or 2° relatives with melanoma
- Several primary melanomas in one person
- Young age of onset of the first melanoma (less than 40 years)
- The presence of atypical or unusual moles early in life
- These families would be candidates for participating in research programs where genetic testing for mutations in candidate genes may be performed.
Management
- All individuals at potentially high risk of melanoma should be offered referral directly to a familial cancer
service or through Genetics Services (see list of familial cancer services). - Surveillance should be arranged in association with the familial cancer service, and discussions will include:
- Education about sun protection and early detection
- Intensive surveillance, commencing from age 10 years, including:
- Three-monthly self-examinations
- Whole-body photography, which may be used as a baseline
- Skin surface microscopy as a baseline
- Skin and scalp examination by a dermatologist, 6- or 12-monthly
- A low threshold for the excision biopsy of any suspicious lesions


