Familial atypical multiple mole melanomaa type of cancer that develops from melanocytes, which are the cells that produce pigment generally in the skin (but can develop in other areas of the body) (FAMMM) syndrome, also known as atypical mole syndrome, is a rare genetic condition characterised by the development of multiple moles (generally over 50) that look different from regular moles, as well as a family history of melanoma. It also increases the riskthe possibility that something bad will happen of developing certain types of cancera disease where abnormal cells split without control and spread to other nearby body tissue and/or organs, most notably cutaneous melanoma.
Familial cancer syndromes, also known as hereditary cancer syndromes, are rare conditions that cause an increased risk of cancer as the result of inherited genetic mutations in certain cancer-related genes. They can affect both adults and children, however they generally develop in people at a younger age than normal. While familial cancer syndromes are not classified as cancer, they are equally as severe and can be life-threatening as they are associated with the development of various tumours throughout the body. Having a familial cancer syndrome does not guarantee the development of cancer, however the risk of developing cancer is higher than those who do not have a familial cancer syndrome.
FAMMM tends to affect the sexes equally, and has a varying average age of diagnosisthe process of identifying a disease based on signs and symptoms, patient history and medical test results. Anyone can develop this disease.
Familial Atypical Mole Melanoma Syndrome Related Tumours
FAMMM is most commonly associated with the development of cutaneous melanoma, however it has also been linked to other types of tumours. Some examples include:
- Melanoma (cutaneous).
- Pancreatic cancers.
- Lung cancer.
- Skin cancer.
- Laryngeal cancer.
- Breast cancer.
- Breast cancer (Male).
- Gastrointestinal cancers.
- Ocular cancer.
Treatment
When cancers are detected, they are staged and graded based on size, metastasiswhen the cancer has spread to other parts of the body, also known as mets, and how the cancer cellsthe basic structural and functional unit of all living things look under the microscope. Stagingthe process of determining how big the cancer is, where it started and if it has spread to other areas and grading helps your doctors determine the best treatment for you. However, each patient with FAMMM will present with a unique disease behaviour, with varying tumoura tissue mass that forms from groups of unhealthy cells locations and symptoms. As such, there is no one treatment method that will work for everyone, and there is no standard staging system for this disease. Instead of staging and grading, your doctor will recommend a treatment plan based on the following factors:
- Type of tumours present.
- Whether the tumours are malignantcancerous, may grow and spread to other areas of the body (cancerous) or benignnot cancerous, can grow but will not spread to other body parts (non-cancerous).
- Tumour location.
- Whether or not malignant tumours have metastasised.
- Your age.
- General health.
- Your treatment preferences.
Your doctor may also recommend genetic testinga procedure that analyses DNA to identify changes in genes, chromosomes and proteins, which can be used to analyse tumour DNA to help determine which treatment has the greatest chance of success, which analyses your tumour DNA and can help determine which treatment has the greatest chance of success. They will then discuss the most appropriate treatment option for you.
Treatment options for tumours associated with FAMMM may include:
- Surgerytreatment involving removal of cancerous tissue and/or tumours and a margin of healthy tissue around it to reduce recurrence to remove as much of the tumour(s) as possible – these will vary based on tumour type and location.
- Chemotherapya cancer treatment that uses drugs to kill or slow the growth of cancer cells, while minimising damage to healthy cells.
- Clinical trialsresearch studies performed to test new treatments, tests or procedures and evaluate their effectiveness on various diseases.
- Palliative carea variety of practices and exercises used to provide pain relief and improve quality of life without curing the disease.
Cancer Screening
Once a diagnosis of FAMMM has been confirmed, implementing a targeted screeningtesting for cancer or conditions that can lead to cancer before symptoms appear, also known as cancer screening plan becomes essential due to the increased risk of developing certain cancers. The content of this plan will vary from person to person based on the genetic mutation involved, your family’s history of cancer and the types of cancers that may be present. It will also outline the routine tests you should have and how regularly you should have them. Some recommendations for FAMMM may include:
- Annual skin examinations.
- Annual physical examinations with family education surrounding signs and symptoms of related tumours and importance of prompt workup with imagingtests that create detailed images of areas inside the body for any concerning symptoms.
Screening options for FAMMM may evolve as new technologies are developed and our understanding of the condition grows. It is essential to discuss your individual circumstances with your healthcare team to determine the most appropriate screening plan for you.
Risk factors
Risk factors for FAMMM include:
- Having a genetic mutation in one of the following genes:
- CDKN2A (cyclin-dependent kinase inhibitor 2A, tumour suppressor gene).
- CDK4 (cyclin-dependent kinase 4, involved in DNA synthesis).
- Having a close relative with the condition or with melanoma.
FAMMM is an autosomal dominant disease, which means that you have a 50% chance of developing the condition if one of your parents carries the genetic mutation.
Symptoms
The symptoms of FAMMM often vary by the type(s) of tumours present. General symptoms of FAMMM may include:
- A greater than average number of moles (generally over 50 moles).
- Moles that are larger than normal (greater than 5mm diameter).
- Moles that vary in colour and shape.
- Moles that look abnormal when compared to a regular mole.
Symptoms related to specific tumours can be found on our knowledgebase.
Not everyone with the symptoms above will have cancer, but see your general practitioner (GP) if you are concerned.
Diagnosis
If your doctor suspects you have tumours associated with FAMMM, they may order some of the following tests to confirm the diagnosis and refer you to a specialist for treatment. The tests required for diagnosis will often vary based on the symptoms present, and where the tumour(s) are suspected to be located.
- Physical examinationan examination of your current symptoms, affected area(s) and overall medical history.
- Genetic testing.
- Blood teststesting done to measure the levels of certain substances in the blood.
- Urine teststesting done to measure the levels of certain substances in the urine.
- Imaging tests, potentially including:
- Ultrasounda type of medical imaging that uses soundwaves to create detailed images of the body .
- MRI (magnetic resonance imaging)a type of medical imaging that uses radiowaves, a strong magnet and computer technology to create detailed images of the body.
- CT (computed tomography) scana type of medical imaging that uses x-rays and computer technology to create detailed images of the body.
- PET (positron emission tomography) scana type of medical imaging that uses radioactive tracers to create detailed images of the body.
- Chest x-raya type of medical imaging that uses x-ray beams to create detailed images of the body .
- Exploratory procedures, such as an endoscopya procedure that involves inserting a long, flexible tube with a light and small camera (endoscope) into the body to view internal organs.
- Biopsyremoval of a section of tissue to analyse for cancer cells.