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People with Peutz-Jeghers syndrome have polyps in their digestive tract and in a few other places.

What is Peutz-Jeghers (PJS) syndrome?

Peutz-Jeghers syndrome (PJS) is an inherited condition that causes abnormal growths, called polyps, in the gastrointestinal (GI) tract and other places in the body. Having PJS increases a person’s risk of developing a few types of cancer.

Signs and symptoms of Peutz-Jeghers (PJS) syndrome

People with Peutz-Jeghers syndrome (PJS) are more likely to have polyps, or abnormal growths, in their GI tract. These are most often found in the small bowel and also can be found in the stomach or large bowel (colon). People with PJS tend to develop symptoms from these polyps between the ages of 10 and 30. Symptoms can include:

• Blood in the stool
• Changes in bowel movements, such as diarrhea, constipation, or thin stools
• Trouble passing stool when larger polyps block the intestines, called a gastrointestinal (GI) obstruction
• Severe belly pain, which can occur when a polyp causes one segment of the intestines to get stuck inside another segment (called intussusception) or when the blood flow to the GI tract is blocked
• Anemia (low red blood cells due to bleeding polyps)
• Tiredness (fatigue) or low energy due to anemia

Polyps can grow in other places in people with PJS, as well. Polyps may be found in the kidneys, bladder, lungs, or nose and throat area.

People with this condition also often have skin changes that look like freckles in unusual places. These small dark spots can be found:

• On the lips
• Inside the mouth
• On the soles of the feet
• On the palms of the hands

These spots often appear in the first two years of life, increasing in size and number until the person goes through puberty and then they may fade and become less visible over time.

What causes Peutz-Jeghers (PJS) syndrome?

Most Peutz-Jeghers syndrome (PJS) is caused by a change in the STK11 (LKB1) gene. The STK11 gene is a tumor suppressor gene. This means a normal STK11 gene controls the growth and division of cells in the body. When the gene is changed or mutated, the cells grow unchecked, leading to polyps and cancer.

• The STK11 gene change can be inherited from a parent.
• Some people with PJS have no family history and instead develop a new mutation in the STK11 gene. This is called a de novo mutation and often happens before birth.
• Some people with clinical signs of PJS do not have a gene change in STK11. Research is being done to find the cause of PJS in these people.

How common is Peutz-Jeghers (PJS) syndrome?

Peutz-Jeghers syndrome (PJS) is a rare condition that affects males and females equally. It is estimated to affect 1 in 50,000 to 200,000 people.

How is Peutz-Jeghers (PJS) syndrome diagnosed?

Because only some people with Peutz-Jeghers syndrome (PJS) have STK11 gene mutations, the diagnosis is based on clinical findings and symptoms. A clinical diagnosis can be made when:

• Two or more PJS-type polyps are found in the GI tract
• PJS skin changes (freckle-like dark spots in the mouth, lips, nose, eyes, genitalia, palms, or soles of the feet) are present in a person with a family history of PJS
• Any PJS-type polyps are found in a person with a family history of PJS in a first-degree relative (like a parent, child or sibling)
• Any PJS-type polyps are found in a person who also has PJS skin changes (freckle-like dark spots in the mouth, lips, nose, eyes, genitals, palms or soles)

Gene testing is usually recommended for a person with a clinical diagnosis of PJS. A change in the STK11 gene confirms a diagnosis and can be important for counseling and deciding if others in the family should get testing.

The absence of a change in the STK11 gene does not rule out PJS in a person who meets the other clinical diagnosis criteria. People without STK11 gene changes but with clinical signs and symptoms of the condition are treated the same as those with PJS-related gene changes.

Does Peutz-Jeghers syndrome (PJS) increase a person’s cancer risk?

Peutz-Jeghers syndrome (PJS) is associated with an increased risk of several cancers. It is estimated that 37% to 93% of people diagnosed with PJS will have at least one cancer during their life.

People with PJS have a higher risk of gastrointestinal cancers, such as colorectal cancer, stomach cancer, and small bowel cancer. PJS also increases the risk of:

• Breast cancer
• Cancer of the reproductive system (ovarian cancer, cervical cancer, endometrial cancer, testicular cancer)
• Pancreatic cancer
• Lung cancer

Early detection testing can find or offer opportunities to prevent some types of cancer in people with PJS.

How is Peutz-Jeghers syndrome (PJS) managed and treated?

There is no cure for PJS, however regular cancer early detection tests can look for and remove polyps before they become cancer or find cancer earlier when treatment is more likely to be successful.

Management of PJS

Gastrointestinal cancer detection

Anyone with PJS should have a routine physical exam once a year with blood counts to detect low iron from blood loss.

Because people with PJS have a higher risk of some types of cancer, screening tests also are recommended.

Gastrointestinal (GI) cancer screening with endoscopy, colonoscopy, and visualization of the small bowel (either video capsule endoscopy or CT/MRI enterography) should start between the ages of 8 and 10. How often screening should be done after the first test depends on:

• If polyps are found on the first test, repeat testing is recommended every 2 to 3 years.
• If no polyps are found on the first screening test, repeat testing can be done at age 18 or sooner if symptoms develop, and then continue every 2 to 3 years.

Screening for other cancers

People with PJS are at higher risk for developing other types of cancer. Screening can be done for some of these cancers with regular physical exams or other tests.

• Testicular cancer: Males should have a testicular exam once a year to detect any abnormal lumps or masses.
• Cervical cancer: Females should begin cervical cancer screening between ages 18 and 20 with pelvic exams and Pap smears.
• Ovarian and endometrial cancers: Routine physical exams for females should include attention to signs of early puberty and include pelvic exams.  Some doctors may recommend pelvic ultrasounds as a part of screening for ovarian and endometrial cancers as well.
• Breast cancer: Females should have clinical breast exams every 6 months starting at age 18 and a breast MRI and mammogram once a year starting between ages 25 and 30.
• Pancreatic cancer: Some centers recommend pancreatic cancer screening with imaging tests of the pancreas between age 30 and 35. These are usually done as a part of clinical research studies.

Testing if you have a family member with PJS

First-degree relatives (such as siblings or children) of someone with PJS should have a physical exam once a year, paying attention to signs of PJS-like skin changes or early puberty. First-degree relatives may be offered genetic testing if they have not received a clear diagnosis before the age of 8.

Treatment of PJS

Gastrointestinal polyps

Polyps larger than 0.5 cm, or those that are causing symptoms, should be removed either during an endoscopy or colonoscopy or surgically, whenever possible to evaluate them for and prevent cancer. Colectomy, a procedure to remove part of the intestine, is sometimes needed if there are too many polyps present or changes suspicious for cancer have been found.

Cancers related to PJS

If cancer is found, it is treated the same as cancer in a person without PJS. The goal of regular testing is to prevent cancer or detect it early, when treatment might be more successful.

Questions to Ask Your Doctor

• What is my risk for developing gastrointestinal (GI) cancer?
• What cancer screening tests should I have?
• How many polyps have I had?
• What kind of colon polyps have I had?
• What is my risk for developing other cancers?
• What can I do to lower my risk for developing cancer?
• Should my family members get tested for PJS?