Gardner syndrome is a variant of familial adenomatous polyposis (FAP) that has the characteristics of FAP with additional tumours outside of the gastrointestinal tract. Like FAP, it is caused by an alteration in the adenomatous polyposis coli (APC) gene, which is a type of tumoura tissue mass that forms from groups of unhealthy cells suppressor gene.
Familial cancera disease where abnormal cells split without control and spread to other nearby body tissue and/or organs syndromes, also known as hereditary cancer syndromes, are rare conditions that cause an increased riskthe possibility that something bad will happen 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.
Gardner syndrome is generally diagnosed equally among the sexes, and is often diagnosed around the age of 25. However, people with this condition may start developing colonthe longest portion of the large bowel that absorbs water and salts from ingested food polyps during puberty, and anyone can develop this disease.
Gardner Syndrome Related Tumours
Gardner syndrome is most commonly associated with the development of colorectalrelating to the colon or rectum in the large bowel/intestine cancers, however it has also been linked to other types of tumours. Some examples include:
- Colorectal (bowel) cancer.
- Small intestine cancer.
- Benignnot cancerous, can grow but will not spread to other body parts tumours, including:
- Fibromas.
- Osteomas.
- Lipomas.
- Desmoid tumours.
- Epidermoid cystsabnormal growths that are usually filled with liquid or air.
- Pilomatricomas.
- Thyroid cancer, most commonly papillary thyroid cancer.
- Pancreatic cancer.
- Hepatoblastoma, a type of liver cancer.
- Ampullary cancer.
- Cholangiocarcinoma.
- Adrenal gland tumours.
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 Gardner syndrome will present with a unique disease behaviour, with varying tumour 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 benign (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 Gardner syndrome 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.
- Radiation therapya treatment that uses controlled doses of radiation to damage or kill cancer cells.
- Nonsteroidal anti-inflammatory drugs (NSAIDs).
- 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 diagnosisthe process of identifying a disease based on signs and symptoms, patient history and medical test results of Gardner syndrome 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 Gardner syndrome may include:
- Annual physical examinationan examination of your current symptoms, affected area(s) and overall medical history.
- Annual colonoscopyan examination of the large intestine/bowel with a small, flexible instrument known as a colonoscope or flexible sigmoidoscopyexamination of the lower portion of the large intestine and rectum with small, flexible instrument known as a sigmoidoscope starting at age 10-12.
- Annual thyroid ultrasounds starting between the ages of 10-20.
- Gastroscopyexamination of the stomach and part of the small bowel with a small, flexible instrument known as a gastroscope every 1-2 years.
- Abdominal ultrasounds and liver function tests every six months until age five in patients with a family history of hepatoblastoma.
Screening options for Gardner syndrome 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
Gardner syndrome is caused by a genetic mutation in the APC tumour suppressor gene, which acts to inhibit cell growth to prevent overproduction of cells and the development of tumours. It is an autosomal dominant disease, which means that you have a 50% chance of developing the condition if one of your parents carries the mutation.
Symptoms
The symptoms of Gardner syndrome often vary by the type(s) of tumours present. General symptoms of Gardner syndrome may include:
- The presence of hundreds of polyps in the colon.
- Abdominal pain and/or discomfort.
- Changes in bowelportion of the digestive system that digests food (small bowel) and absorbs salts and water (large bowel); also called intestines movements, potentially including:
- Diarrhoeafrequent discharge of watery or loose stools from the body.
- Constipationa condition where a person has difficulty passing faeces/stools.
- Feeling of incomplete bowel movement.
- Thin bowel stools.
- Bloodthe red bodily fluid that transports oxygen and other nutrients around the body in stools.
- Rectal bleeding.
- Unexplained weight loss/loss of appetite.
- Fatiguea state of extreme tiredness or exhaustion, can be physical or mental.
- Anaemiaa condition where there aren't enough red blood cells in the blood, causing fatigue, weakness and pale skin and affecting how the body responds to infection.
- Nauseato feel sick or likely to vomit and/or vomiting.
- Abnormal skin lesions or cysts.
- Bone pain.
- Dental abnormalities.
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 Gardner syndrome, 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 examination.
- Genetic testing.
- Blood teststesting done to measure the levels of certain substances in the blood.
- Imagingtests that create detailed images of areas inside the body 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.
- Exploratory procedures, such as:
- Colonoscopy.
- Flexible sigmoidoscopy.
- Other types of endoscopya procedure that involves inserting a long, flexible tube with a light and small camera (endoscope) into the body to view internal organs as indicated.
- Biopsyremoval of a section of tissue to analyse for cancer cells