Peutz-Jeghers syndrome is a hamartomatous polyposis syndrome associated with a very high cumulative lifetime risk (up to 93%) of intestinal (e.g., colorectal, gastric, and small bowel) and extraintestinal (e.g., breast, pancreas, cervix, uterus, ovary, testes, and lung) cancers.
Patients require lifelong intensive cancer surveillance including prophylactic polypectomy to prevent complications of polyposis and to identify cancer at an earlier stage.
Small bowel obstruction is a frequent complication; up to 70% of individuals require laparotomy for small bowel obstruction by the age of 18 years.
Peutz-Jeghers syndrome (PJS) is a rare, autosomal-dominant disorder characterized by hamartomatous polyposis caused by germline mutations in the STK11 gene. The defining features are mucocutaneous pigmentation and gastrointestinal polyposis. The lifetime cancer risk is reported to be as high as 93%, including gastrointestinal and extraintestinal malignancies. Colorectal and breast malignancies occur most frequently, followed by cancers of the small bowel, stomach, and pancreas.
History and exam
Key diagnostic factors
- small intestinal obstruction
- mucocutaneous pigmentation
Other diagnostic factors
- abdominal discomfort and distension
- abdominal pain
- gastrointestinal bleeding
- polyp prolapse per anus
- enlarged testicles (without masses)
- bilateral gynecomastia
- positive family history
- germline STK11 gene mutation
1st investigations to order
- magnetic resonance enterography
- polyp histology
- STK11 genetic testing
initially confirmed polyposis: symptomatic or asymptomatic
following initial surveillance colonoscopy
- Juvenile polyposis syndrome
- PTEN-hamartoma tumor syndrome
- Mixed hereditary polyposis syndrome
- NCCN clinical practice guidelines in oncology: genetic/familial high-risk assessment: colorectal
- Adverse events associated with EGD and EGD-related techniques
Colon and rectal cancer: what is it?
Colon and rectal cancer: what treatments work?More Patient leaflets
- Log in or subscribe to access all of BMJ Best Practice
Use of this content is subject to our disclaimer