Peutz-Jeghers Syndrome and
Peutz-Jeghers syndrome (PJS) is a rare, inherited condition. It’s passed
to a child from a parent. PJS is an autosomal dominant genetic disorder. This means
only need one copy of the altered (mutated) gene in order to have PJS.
About 3 out of every 4 people diagnosed with PJS have a family history
of the disorder. One out of 4 people have no family history. In this case, the gene
mutation may have happened on its own, meaning it wasn’t passed on from a parent.
Genetic counseling with genetic testing can be done to diagnose PJS.
What is Peutz-Jeghers syndrome?
PJS symptoms often start early in childhood (before age 10). These
- 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 tend to show up during childhood and fade with age.
- Growths in the lining of the gastrointestinal tract called
hamartomatous polyps. These start in childhood. They cause pain, vomiting, bleeding,
diarrhea, and blockages.
- Polyps in other parts of the body, like the nose, lungs, and
People with PJS are at higher risk of tumors that aren’t cancer
(benign) in the ovaries and testes. They’re also at very high risk for certain types
cancer. These cancers start at younger than usual ages, such as the 40s.
How does Peutz-Jeghers syndrome lead to cancer?
In most cases, PJS is caused by changes (mutations) in the STK11
gene. The STK11 gene is a tumor suppressor gene. This means it controls cell growth
More than one of the growth-control genes need to mutate before
cancer can start. But the loss of STK11 is the first step in the process. What causes
the other mutations is unknown.
Some people who have inherited a STK11 mutation never get cancer.
This is because they never get the second mutation that stops control of cell growth
and starts the process of tumor growth. This can make cancer appear to skip generations
in a family. But the gene mutation is still present. All people with PJS have a 1
chance of passing the mutation on to each of their children. This is true whether
they (the parent) develop cancer.
It’s also important to remember that the STK11 gene is not located on
the sex chromosomes. This means the mutation comes from either the mother’s side or
father’s side of the family.
What kinds of cancer are linked to Peutz-Jeghers syndrome?
Almost all people with PJS will be diagnosed with one or more of
these types of cancer during their lifetime:
- Small intestine
- Colon and rectum
Cancer screening when you have Peutz-Jeghers syndrome
Genetic testing can confirm if you have PJS. People with PJS can take
steps to help reduce cancer risk. For instance, they can not use tobacco and stay
from tobacco smoke. They can also start cancer screening at a young age. Screening
are used to look for cancer before it causes symptoms.
It’s very important that anyone with PJS talks with a healthcare
provider about cancer screening options. Here are some of the tests that might be
Upper endoscopy. Starting at age 8,
a child with PJS should have this test regularly. It’s used to look for polyps,
tumors, and other problems in the esophagus.
Colonoscopy. A child with PJS should
have this test done at age 8. If polyps are found, it should be repeated every 2 to
years. This checks for changes that could become cancer over time.
MRI. These scans can be done to
watch for pancreatic cancer. This should be done starting at about age 30. If someone
in the family has had pancreatic cancer, it should be started at 10 years younger
than the age that family member was when they were diagnosed.
Mammogram. These tests should be
started at age 20. They should be done every 2 to 3 years until age 40. After age
a mammogram should be done every year.
Yearly clinical breast exam. A
healthcare provider should examine the breasts every year. Women might also want to
talk with a provider about breast self-exams.
Yearly pelvic exam. These should be
done with a Pap test and ultrasound for women with PJS, starting at age 25.
Yearly testicular exam. These should
be done for men with PJS, starting in childhood.
The best screening plan varies for each person. Talk with your
healthcare provider and genetic counselor to figure out the best plan for you.