Peutz-Jeghers Syndrome

Peutz-Jeghers syndrome (PJS) is a rare inherited disorder that affects approximately 1 in 50,000 to 1 in 300,000 people. Not everyone with Peutz-Jeghers syndrome will develop cancer but those affected by PJS are at an increased risk and should undergo regular screening.

What is Peutz-Jeghers syndrome (PJS) ?

Peutz-Jeghers Syndrome (pronounced pertz yay-ger) is inherited in an autosomal dominant pattern, which means each child of an affected person has a 50:50 chance of inheriting PJS.

Peutz-Jeghers syndrome (PJS) is characterised by freckling, gastrointestinal polyposis and an increased risk of developing certain types of cancers.

Not all patients show all of these features or develop any particular feature to the same extent as other Peutz-Jeghers syndrome patients, that is, Peutz-Jeghers syndrome is different in each patient.

What are the features of Peutz-Jeghers syndrome (PJS) ?

  • Polyps—Patients will typically develop dozens to thousands of polyps called hamartomas (which means a benign growth), usually beginning in childhood. These polyps primarily develop in the lining of the small intestine (jejunum, ileum and duodenum), however they can also occur elsewhere in the GI tract.
  • GI problems—Gastrointestinal symptoms include abdominal pain and bloated feeling resulting from gastrointestinal polyps twisting and blocking the inside of the small intestine. Bleeding can occur as hamartomas rub against intestinal lining, which can lead to tiredness and lack of energy. Anaemia may develop as a result of bleeding. Intussusceptions (infolding of one part of the intestine into another) can also occur. People with PJS may also report rectal bleeding or blood in their stool.
  • Freckling—Most people with PJS have flat deeply pigmented spots around and inside their mouth, on their lips, fingers and toes. Less commonly, these spots can be seen on hands and feet, in the mucosa of the nose, conjunctiva or rectum. These freckles are harmless and begin to appear very early in childhood and then may disappear into adulthood.
  • Other—Very early puberty can occur and occasionally men develop gynecomastia (an excessive development of the male mammary glands, even to the functional state).
  • Cancer risk—Not everyone with PJS will develop cancer, but those affected are at an increased risk and with a younger age of onset than those in the general population. These can include cancer of the stomach, small intestine, colon, pancreas, breasts, ovaries, cervix or testicles.

What can be done if someone has Peutz-Jeghers syndrome (PJS)?

It is important that Peutz-Jeghers syndrome features are diagnosed soon after they appear so they can be treated as early as possible. Speak to your specialist about the best screening schedule for you. If any of the features of Peutz-Jeghers syndrome are found, your doctor will recommend the most appropriate form of treatment for you at that time. 

Please visit the eviQ website for the latest Risk Management guidelines for Peutz-Jeghers syndrome. There is also a fact sheet for people and families with PJS.

Genetic testing

Researchers have identified a gene associated with Peutz-Jeghers syndrome called STK11. Changes (mutations) in the STK11 gene can cause Peutz-Jeghers syndrome.

If an STK11 mutation is identified in your family, other relatives at risk of carrying the gene change can be tested.

Sometimes an STK11 mutation is not found in the family and in this case, Peutz-Jeghers syndrome may be due to other gene changes that research has not yet identified. If the family STK11 mutation is not found, genetic testing is not able to be offered to other family members.

If a family mutation is found, the rest of the family can be offered predictive testing. This means testing to see if you are at risk of Peutz-Jeghers syndrome by checking whether or not you have the gene mutation before you show any signs or symptoms.

A blood test is needed for gene testing. For further information speak with a Genetic Counsellor.

What if I suspect I have Peutz-Jeghers syndrome (PJS)?

Speak to your doctor, a Genetic Counsellor or call the Hereditary Cancer Registry on 1800 505 644.

For more information on hereditary cancer, please visit eviQ and click on the Cancer Genetics tab.