Peutz-Jeghers Syndrome

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. This gene
is called
STK11. It
is on chromosome 19. Genetic testing
find this gene change. 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

  • Ovarian
  • Breast
  • Colon
  • GI tract
  • Pancreas
  • Cervix
  • Testicular

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

  • Contact with certain chemicals
  • Contact with certain biological environmental factors
  • Errors in cell replication that happen by chance

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

STK11 gene is not
the sex chromosomes. This means
either the mother’s side or the father’s side of the family.

Cancer screening when you have

Genetic testing can confirm
if you have
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
    every 2 to 3 years. This
    for changes that could become cancer over time.
  • MRI tests. These can be done
    to watch for pancreatic
    cancer. This
    should be done starting at about age 30.
  • Mammograms. These tests should
    be started at age 20.This
    should be done every 2 to 3 years until age 40. They should then be
    a year.
  • 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.