Peutz-Jeghers syndrome

Medical quality assurance by Dr. Albrecht Nonnenmacher, MD at January 2, 2017
StartDiseasesPeutz-Jeghers syndrome

People who have Peutz-Jeghers syndrome or PJS have a greatly increased risk of developing several different types of cancer. The more common types of cancer that are associated with this condition are breast cancer, colon cancer, ovarian cancer, and gastrointestinal cancer


Definition & Facts

Aspects of Peutz-Jeghers syndrome were first discovered in 1921 by Jan Peutz and 1949 by Harold Jeghers, and its definition was solidified in 1954. Hamartomatous polyps are a feature of PJS. They are growths that appear on the tissue that can potentially grow into cancerous tumors primarily in the stomach and intestines. Its symptoms can be highly visible, resulting in skin lesions, oral lesions, and in certain cases, gynecomastia.

Peutz-Jeghers syndrome is a genetic, congenital disorder. It arises from genetic mutations in a tumor-suppressor gene, resulting in uncontrolled cell growth.

Symptoms & Complaints

There are a multitude of symptoms of PJS. They can include the following:

One-third of individuals who are affected by PJS develop symptoms within the first ten years of their lives. 50 percent of people who have the condition show signs by age 20. Patients may develop ovarian cysts or another type of ovarian tumor called a sex cord–gonadal stromal tumor.

Severe abdominal pain is frequently a sign of an emergency situation such as intussusception. Intussusception is when a part of a person's intestines slides into an adjacent part of the intestine which causes a blockage that cuts off the blood supply to the affected part of the intestine. That often leads to a tear in the bowel which causes infection and necrosis of the bowel tissue.


The amount of people who are affected by PJS is unknown. It is estimated to affect between 1 out of every 25,000 people to 300,000 people. PJS can either be inherited or it can arise sporadically. PJS is most often caused by a mutation in a certain gene called STK11. This gene is located on chromosome 19 and is a tumor suppressor gene. STK11 is also known as LKB1. PJS can be inherited via autosomal dominant inheritance pattern.

Diagnosis & Tests

In addition to taking a medical history, family history, and list of symptoms, a medical professional will perform a physical examination. He or she will take note if the patient has melanin spots and other characteristic skin discolorations around the nose, mouth, and digits. An examination will also likely include a rectal examination which can detect the presence of colorectal polyps.

Colonoscopies can show any bowel abnormalities. A complete blood count will likely be taken. Endoscopy and barium swallows may be used to detect the presence of polyps in the gastrointestinal tract. Ultrasound and magnetic resonance imaging (MRI) scans may also be employed to detect the presence of polyps. Biopsies are also helpful in determining whether or not the growths that result from this condition are cancerous or not.

Treatment & Therapy

Polyps will likely need to be removed through surgery. Surgery can involve laparotomy which involves a large incision into the abdomen. It can also take the form of laparoscopy which is less invasive. Enteroscopy which is another form of surgery may be employed, and this can remove polyps from the small intestine.

Iron supplements may also be recommended. People who suffer from Peutz-Jeghers syndrome will be recommended for regular tests for cancer and cancerous polyp changes.

Prevention & Prophylaxis

Prevention of this condition is impossible because it is a genetic disorder. Prevention of its worst symptoms however may be achievable through vigilance, frequent doctor's visits, and regular cancer screenings.

Families planning to have children may opt to undergo genetic counseling in order to assess the risk that their children will inherit the gene. Genetic testing can include a blood test to look for the STK11 gene.