Overview

What is Peutz-Jeghers syndrome (PJS)?

Peutz-Jeghers syndrome (PJS) is a condition where people develop characteristic polyps and dark-colored spots and have an increased risk of certain types of cancer.

The gene that is mutated, causing this condition, is responsible for controlling cell growth. People with PJS can develop polyps — called Peutz-Jeghers polyps — in the small bowel, colon, stomach, lungs, nose, bladder and rectum. These polyps are considered hamartomatous polyps. Hamartomatous polyps are benign (not cancerous) overgrowths of tissues.

How is Peutz-Jeghers syndrome (PJS) inherited?

Peutz-Jeghers syndrome (PJS) is an inherited (passed down from a family member) condition. Approximately 50 percent of individuals with PJS have a parent with the syndrome. The other 50 percent of people diagnosed with PJS are the first in the family with the syndrome.

There is a 50 percent chance that a child of someone with PJS might inherit the mutated copy of the gene. There is also a 50 percent chance that the child would not inherit the mutation.

Symptoms and Causes

What causes Peutz-Jeghers syndrome (PJS)?

Peutz-Jeghers syndrome (PJS) is caused when a person has a change (mutation) in one copy of the STK11/LKB1 gene. Everyone has two copies of the STK11/LKB1 gene. The copy of the gene with the mutation can be passed on to future generations.

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

Symptoms of Peutz-Jeghers syndrome (PJS) can develop in children and adults. Some symptoms in children may fade away as they age. Symptoms can include:

Characteristic dark-colored spots (also called muco-cutaneous pigmentation) on various parts of the body. These spots are typically dark brown or blue in childhood and then fade in the late teenage years. These spots can appear on various parts of the body, including the:
- Mouth
- Lips
- Eyes
- Nose
- Hands and feet
- Anus
Development of hamartomatous polyps (non-cancerous overgrowths of tissue)
Small bowel obstruction (blockage)
- Up to 50 percent of patients have experienced a small bowel obstruction requiring surgery before turning 20.
Gastrointestinal bleeding
Anemia
Stomach pain
Intussusception of the small bowel (a condition where the small bowel turns itself inside out). This commonly occurs early due to the small bowel trying to pass a large polyp. Patients experience symptoms such as pain, nausea and vomiting, and are typically young. They may be at puberty or in their early teen years.

Diagnosis and Tests

How is Peutz-Jeghers syndrome (PJS) diagnosed?

A diagnosis of Peutz-Jeghers syndrome (PJS) is considered in anyone with:

Two or more Peutz-Jeghers polyps
Any number of Peutz-Jeghers polyps with a family history of PJS
Characteristic dark-colored spots with a family history of PJS
Any number of Peutz-Jeghers polyps and characteristic dark-colored spots

Genetic counseling and genetic testing should be offered to anyone that meets these criteria. Genetic testing is done through a blood sample. Nearly all patients with PJS will have a change (mutation) in the STK11/LKB1 gene. Once a mutation is identified, the patient’s family members can be tested for that mutation. Anyone found to have a mutation in the STK11/LKB1 gene has PJS.

Individuals diagnosed with PJS should inform their family members about their diagnosis and encourage them to undergo genetic counseling. This evaluation includes an evaluation of their personal history, exploration of the family history, and genetic testing for the PJS gene mutation identified in the family. Recommendations to keep you and your family healthy and to prevent cancer will also be provided.

Management and Treatment

How is Peutz-Jeghers syndrome (PJS) treated?

Currently, there is no cure for Peutz-Jeghers syndrome (PJS). Patients undergo lifelong surveillance of organs to monitor for cancer and prevent secondary problems from the polyps.

Some studies show that patients who are under close surveillance may avoid the need for emergency small intestinal surgery and do not develop cancer. This depends on polyps being removed before they are large enough to cause an obstruction or become a cancer.

Polyps in the colon are easily removed during a colonoscopy. Polyps in the stomach and duodenum (part of the small intestine) can be biopsied and snared (removed) if necessary. Polyps in the small bowel further downstream can be seen on balloon or double balloon enteroscopy and possibly snared.

If the polyps cannot be reached, and are showing symptoms of a greater issue, then they may be removed surgically. Generally, the polyps can be removed one-by-one without losing any of the bowel.

Prevention

Can Peutz-Jeghers syndrome (PJS) be prevented?

Peutz-Jeghers syndrome (PJS) requires life-long surveillance to remove any polyps that cause obstructions (blockages) and to check for the development of cancer. Recommended screening includes:

Women and men

CT or MRI enterography or video capsule endoscopy beginning at age eight to 10 years with follow up interval screening based on findings, but at least by age 18, then every two to three years
Colonoscopy every two to three years beginning in the late teenage years
Upper endoscopic ultrasound every two to three years beginning in the late teenage years
Magnetic resonance cholangiopancreatography (a type of MRI) with contrast or endoscopic ultrasound every one to two years beginning at age 30 to 35 years

Women only

Breast exams by a healthcare provider twice a year beginning at age 25 years
Annual mammogram and breast MRI beginning at age 25 years
Annual pelvic exams and Pap smear beginning between age 18 and 20 years
Consider annual transvaginal ultrasound beginning between the ages of 18 to 20 years

Men only

Annual testicular exam and observation for feminizing changes beginning at age 10 years

Outlook / Prognosis

What is the outlook for Peutz-Jeghers syndrome (PJS)?

Peutz-Jeghers syndrome (PJS) cannot be cured — it is a life-long condition that can be passed on to children. People with PJS need to be checked frequently for developing polyps. Those polyps can develop into cancer or cause a blockage that could require surgery.

What are the cancer risks associated with Peutz-Jeghers syndrome (PJS)?

Individuals with Peutz-Jeghers syndrome (PJS) are at an increased risk of developing cancer in the digestive tract and in certain other organs. The lifetime risk of developing any sort of cancer is estimated to be as high as 93 percent. Men and women with PJS have a 39 percent risk of colon cancer, a 36 percent risk of developing pancreatic cancer, and a 29 percent risk of developing stomach cancer. Women have as high as a 54 percent lifetime risk of developing breast cancer. Also, rare tumors of the reproductive organs have been reported in PJS.

Females can develop sex-cord tumors of the ovary and adenoma malignum of the cervix (a type of cervical cancer). These tumors can cause irregular periods or early puberty. Males can develop tumors of the sex-cord and Sertoli-cell type of the testicles. These tumors can cause male breast development and early puberty. Men and women also have an increased risk of developing lung cancer, even in non-smokers.

Resources

What resources are available for more information about Peutz-Jeghers syndrome?

The Peutz-Jeghers Syndrome Support Group

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Peutz-Jeghers Syndrome (PJS)