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Peutz-Jeghers syndrome
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Condition

Peutz-Jeghers syndrome

Peutz-Jeghers syndrome is a genetic condition characterized by the development of noncancerous hamartomatous polyps in the gastrointestinal tract and an increased risk of developing various types of cancer.

Overview

Peutz-Jeghers syndrome involves the growth of hamartomatous polyps, particularly in the stomach and intestines. These polyps often develop during childhood or adolescence and can lead to complications such as recurrent bowel obstructions, chronic bleeding, and abdominal pain.

Symptoms

  • Small, dark-colored spots appearing on the lips, near the eyes and nostrils, and around the anus during childhood (these often fade with age).
  • Spots on the hands and feet.
  • Multiple polyps in the stomach and intestines.
  • Increased risk of cancers of the gastrointestinal tract, pancreas, cervix, ovary, and breast.

Causes & Risk Factors

Most cases are caused by mutations in the STK11 gene (also known as LKB1). This gene acts as a tumor suppressor, meaning it normally prevents cells from growing or dividing too rapidly. When the gene is mutated, the resulting protein cannot restrain cell growth, leading to the formation of polyps and tumors.

Inheritance

This condition is inherited in an autosomal dominant pattern. In approximately half of all cases, the mutation is inherited from an affected parent. The remaining cases occur in individuals with no family history, often resulting from new (de novo) mutations in the STK11 gene.

Frequency

The prevalence of Peutz-Jeghers syndrome is uncertain, with estimates ranging from 1 in 25,000 to 1 in 300,000 individuals.

Frequently Asked Questions

Genetic testing for the STK11 gene is recommended for first‑degree relatives of an affected individual, ideally before the age of 18, to allow early surveillance. The test involves a blood draw or saliva sample sent to a certified laboratory. A pre‑test counseling session helps you understand the implications of a positive or negative result, including the possibility of a de novo mutation. If you test positive, you should start surveillance endoscopies and cancer screenings as outlined above; if negative, routine screening is generally sufficient unless you have other risk factors.
ny sudden onset of severe abdominal pain, vomiting, inability to pass gas or stool, or bright red or coffee‑ground‑colored stools should be evaluated urgently, as these can indicate bowel obstruction or significant bleeding from polyps. If you notice persistent abdominal discomfort, unexplained anemia, or a change in bowel habits, contact your healthcare provider promptly.
STK11 mutations impair tumor suppression, raising the risk of cancers in the gastrointestinal tract, pancreas, breast, cervix, and ovaries. For gastrointestinal cancers, colonoscopy and upper endoscopy every 1–2 years are recommended. Pancreatic cancer screening may include annual MRI or endoscopic ultrasound starting at age 30–35, especially if a first‑degree relative has pancreatic cancer. Breast cancer screening should begin at age 25–30 with annual mammography and MRI, and cervical cancer screening follows the standard guidelines for age‑appropriate Pap tests and HPV testing. Ovarian cancer surveillance is less defined but may involve transvaginal ultrasound and CA‑125 testing in high‑risk individuals. Discuss a personalized plan with your genetic counselor and oncologist.
Patients with Peutz-Jeghers syndrome should begin surveillance endoscopies in early adolescence, typically around age 10–12. After the first screening, repeat colonoscopies and upper endoscopies every 1–2 years are usually advised, depending on polyp burden and family history. If large or numerous polyps are found, the interval may be shortened to every 6–12 months. It is essential to coordinate with a gastroenterologist experienced in hereditary polyposis syndromes to tailor the schedule to your individual risk.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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