Peutz-Jeghers Syndrome and
PJS is a rare, inherited condition. It is an autosomal dominant genetic
disorder. It starts early in childhood. When you have Peutz-Jeghers syndrome (PJS), you
have a higher risk of certain types of cancer.
What is Peutz-Jeghers syndrome?
PJS causes certain physical features. These can include:
- Dark blue or brown moles around and/or in the mouth (including
the lips), and around the eyes, nostrils, and anus. There may be dark moles on the
hands and feet. These appear during childhood and fade with age.
- Polyps in the gastrointestinal tract that appear in childhood
and cause pain, bleeding, and blockages
- Polyps in other parts of the body, like the nose, lungs, and
- Increased risk of benign (not cancer) tumors of the ovaries and
How does Peutz-Jeghers syndrome lead to cancer?
PJS is caused by changes (mutations) in a gene called STK11 on
chromosome 19. Genetic testing is available. About half of the people diagnosed with PJS
have a family history of the disorder. The other half have no family history. Almost all
people with PJS will be diagnosed with 1 or more of these types of cancer during their
- GI tract
The STK11 gene is a tumor suppressor gene. This gene usually controls
cell growth and cell death. Both copies of a tumor suppressor gene must be mutated
before a person will develop cancer. With PJS, the first mutation is inherited from
either the mother or the father. This gene is present from birth in every cell of the
body. This is called a germline mutation. Whether a person who has a germline mutation
will develop cancer and where the cancer(s) will grow depends on where the second
mutation happens. For example, if the second mutation is in the breast, then breast
cancer may grow. If it’s in the colon, then colon cancer may grow.
More than 1 growth-control genes need to mutate before a tumor can
develop. Loss of STK11 is just the first step in the process. What causes these other
mutations is unknown. Possible causes include chemical, physical, or biological
environmental exposures or chance errors in cell replication.
Some people who have inherited a germline STK11 mutation never have
cancer. This is because they never get the second mutation that stops the function of
the gene and starts the process of tumor growth. This can make the cancer appear to skip
generations in a family. But the gene mutation is still present. People with a mutation
have a 50/50 chance to pass the mutation on to each of their children. This is true
whether or not they develop cancer,
It’s also important to remember that the STK11 gene is not located on
the sex chromosomes. This means mutations can be inherited from the mother’s side or the
father’s side of the family.
Cancer screening when you have PJS
Genetic testing can confirm PJS in people who have the symptoms.
People with PJS can take steps to reduce cancer risk. For example, these can include not
using tobacco and staying away from tobacco smoke. It’s also important to talk to a
healthcare provider about cancer screening, such as:
Upper endoscopy. Starting at
age 8, a child with PJS should have these tests regularly. These are done to watch
for polyps and tumors in the esophagus.
Colonoscopy. At age 8, a child
with PJS should have this test. If polyps are found, the test should be repeated
every 2 to 3 years. This lets the healthcare provider watch for changes that could
become cancer over time.
MRI tests. These can be done
to watch for pancreatic cancer starting at about age 30.
Mammograms. These tests should
be started at age 20 and done every 2 to 3 years until age 40. They should then be
Yearly pelvic exam. These
should be done with ultrasound for women with PJS, starting at age 25.
Yearly testicular exam. These
should be done for men with PJS, starting at age 25.
The best screening plan varies for each person. Talk to your provider
about seeing a genetics doctor to figure out the best plan for you.