Juvenile polyposis syndrome (JPS), also known as familial juvenile polyposis, is a rare genetic condition characterised by the development of multiple hamartomatous juvenile polyps throughout the gastrointestinal tract, as well as a predisposition for malignancy (cancera disease where abnormal cells split without control and spread to other nearby body tissue and/or organs). It is caused by genetic mutations of different two tumoura tissue mass that forms from groups of unhealthy cells suppressor genes.
Familial cancer 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.
JPS is generally diagnosed equally among the sexes, and is often diagnosed around the age of 20. However, anyone can develop this disease.
Types of Juvenile Polyposis Syndrome
There are three primary types of JPS, which are categorised based on the localisation of the polyps and onset of symptoms.
Juvenile Polyposis of Infancy
Juvenile polyposis of infancy is a rare variant of JPS that generally diagnosed before the age of two. It is characterised by the development of polyps throughout the gastrointestinal tract, most notably in the stomach, small intestinea section of the gastrointestinal tract that recieves food from the stomach and absorbs the nutrients from food, also called small bowel, colonthe longest portion of the large bowel that absorbs water and salts from ingested food and rectumthe last section of the large intestine/bowel that holds waste until it is ready to be removed from the body. Unfortunately, juvenile polyposis of infancy is often aggressive, and may not have as good of a prognosisto predict how a disease/condition may progress and what the outcome might be as other types of JPS.
Generalised Juvenile Polyposis
Generalised juvenile polyposis is the most common type of JPS that is generally diagnosed around the age of 20. It is characterised by the development of polyps throughout the gastrointestinal tract, most notably in the stomach, small intestine, colon and rectum. Generalised juvenile polyposis can be aggressive, and regular monitoring is important to ensure the polyps don’t become cancerous.
Juvenile Polyposis Coli
Juvenile polyposis coli is a relatively common type of JPS that is generally diagnosed around the age of 20. It is characterised by the development of polyps in the colon and rectum only. Juvenile polyposis coli can be aggressive, and regular monitoring is important to ensure the polyps don’t become cancerous.
Juvenile Polyposis Syndrome Related Tumours
JPS is most commonly associated with the development of colorectalrelating to the colon or rectum in the large bowel/intestine cancer, however it has also been linked to other types of tumours. Some examples include:
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 JPS 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 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 JPS 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.
- 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 JPS 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 JPS may include:
- Annual physical examinationan examination of your current symptoms, affected area(s) and overall medical history with cardiovascular examination and routine blood teststesting done to measure the levels of certain substances in the blood.
- Colonoscopyan examination of the large intestine/bowel with a small, flexible instrument known as a colonoscope every 1-3 years beginning at the ages of 12-15 (earlier if symptomatic).
- Gastroscopyexamination of the stomach and part of the small bowel with a small, flexible instrument known as a gastroscope every 1-3 years beginning at the age of 12-15 (earlier if symptomatic).
Screening options for JPS 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
JPS is caused by the following genes:
- BMPR1A (bone morphogenetic protein receptor type 1A, tumour suppressor gene).
- SMAD4 (SMAD family member 4, tumour suppressor gene).
JPS 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 JPS often vary by the type(s) of tumours present. General symptoms of JPS may include:
- Rectal bleeding.
- 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.
- Bowel obstructiona complete or partial blockage of the bowel/intestines.
- Intussusceptiona serious condition that occurs when part of the intestine slides into another part of the intestine causing a bowel obstruction.
- Diarrhoeafrequent discharge of watery or loose stools from the body.
- Rectal prolapse.
- Failure to thrive in infants.
- Macrocephalus.
- Hypotonia.
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 JPS 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.
- Bloodthe red bodily fluid that transports oxygen and other nutrients around the body tests.
- Imagingtests that create detailed images of areas inside the body tests, potentially including:
- 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.
- Exploratory procedures, potentially including:
- Flexible sigmoidoscopyexamination of the lower portion of the large intestine and rectum with small, flexible instrument known as a sigmoidoscope .
- Colonoscopy.
- Proctoscopyexamination of the rectum and anus with a small, flexible instrument called a proctoscope .
- Gastroscopy.
- Biopsyremoval of a section of tissue to analyse for cancer cells.