Peutz-Jeghers syndrome (Pancreatic cancer)

Peutz-Jegher syndrome (PJS) is a genetic disease and therefore a non-modifiable risk factor. You cannot change the genes you inherit. However, you can manage your risk once you are aware of it.

PJS can increase your chance of getting pancreatic cancer and monitoring for pancreatic cancer should make up part of the regular screening and monitoring PJS patients receive.

What is Peutz-Jeghers syndrome?

This is a very rare inherited syndrome that generally presents itself in childhood. It often causes fleshy non-cancerous growths called ‘hamartomatous polyps’ which develop on the surface of the digestive tract, most commonly in the small intestine, but can also occur in the large intestine and the stomach.

PJS also increases the chance of having certain types of cancer, these include gastrointestinal, colon, breast, pancreatic, ovarian, testicular, uterine, and lung cancer. Patients with PJS often have regular screening to monitor development of polyps and signs of cancer.

What are the symptoms?

The physical traits include areas of pigmentation on the body which appear as black or dark blue dots. Most commonly they appear around the mouth, lips, and on the inside of the cheeks. However, these spots can also occur on the nose, fingers, palms, toes, soles of the feet, eyes and anus.

Polyps often present themselves in adolescents. Although the polyps are usually non-cancerous, they can cause health problems.

  • Diarrhoea
  • Constipation
  • Bloating
  • Weight loss
  • Rectal bleeding
  • Abdominal pain
  • Anaemia (low levels of iron).
  • Intussusception where the intestine folds itself and blocks the bowel (this is a medical emergency)

See the NHS website for more info: https://www.nhs.uk/conditions/iron-deficiency-anaemia/).

What causes Peutz-Jeghers syndrome?

PJS is caused by inheriting a mutation (when a change occurs in a gene) in the STK11 tumour suppressor gene on chromosome 19 (this gene can also be called LKB1). This gene assists preventing cells from rapidly dividing and growing too quickly, when this gene is damaged it causes the ‘polyps’ to develop, these can be non-cancerous or cancerous. It is possible that other genes are involved in PJS but this is currently uncertain.

 

How common is Peutz- Jeghers Syndrome?

PJS is extremely rare, therefore the research on how often it occurs is lacking, but it is estimated to be between 1 in 20,000 or 1 in 50,000 people.

How does Peutz-Jeghers Syndrome occur?

PJS is an inherited genetic condition and therefore cannot be caught or caused by lifestyle factors. The condition is caused by a malfunctioning gene. Genes are sections of DNA inherited from our parents. Everyone has two copies of each gene, one from their father and one from their mother. Everyone is different and small differences in our genes create the differences seen between people.

PJS has autosomal dominant inheritance. This means that you only need one faulty copy of the gene from your mother or father to develop the condition. If either of your parents have PJS you have a 50% chance of inheriting the mutated STK11 gene from your parents.

Some people do not have the STK11 gene mutation, but still have PJS, the cause of this is unknown but it is probably the result of a gene mutation during the development of the embryo (early developmental stage of an unborn child). These individuals can still pass the mutation to their children.

Treatments for PJs Syndrome

Treatments are dependent on the symptoms that present. Regular screening aims to help early removal of polyps aims to prevent the development of more severe problems. This is usually done through an endoscopy/ colonoscopy/ gastroscopy (these are all methods of passing a camera through the body) in order to inspect the polyps. Often surgery is needed in the stomach at some point during the lifetime, this is either a laparotomy and laparoscopy (both are forms of keyhole surgery, just slightly different methods). The use of camera and surgical methods together can diagnose and remove polyp formation at the same time. Surgery is often also needed to treat intussusception.

For other symptoms such as diarrhoea, constipation, medication can be given to help relieve symptoms. Discuss treatment options with your doctor.

If you do have this syndrome regular cancer surveillance is highly recommended. If you have or think you may have PJS syndrome it is very important to discuss this with your doctor.

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Information Product No. | Published: 15/10/2019 | Last Updated: 15/10/2019 | Next Review Due: 15/10/2022