Peutz-Jeghers syndrome is associated with an increased risk of intestinal cancer (e.g., colorectal and small bowel) and extra-intestinal cancer (e.g., breast, pancreas). The lifetime risk for developing cancer is estimated to be up to 93%. Unusual genital tract tumours may occur.
Patients require lifelong cancer surveillance with prophylactic polypectomy.
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 characterised by hamartomatous polyposis caused by germline mutations in the STK11 (LKB1) gene. Mutations are found in about 93% of individuals with PJS, and may be inherited in an autosomal-dominant manner or occur de novo. The defining features are mucocutaneous pigmentation and gastrointestinal polyposis. The lifetime cancer risk is reported to be as high as 90%, including gastrointestinal and extra-intestinal malignancies. Breast, colorectal, and pancreatic malignancies occur most frequently.
History and exam
Key diagnostic factors
- presence of risk 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 gynaecomastia
- signs of cardiac failure
- positive family history
- germline STK11 gene mutation
1st investigations to order
- polyp histology
- STK11 genetic testing
initially confirmed polyposis: symptomatic or asymptomatic
following initial surveillance colonoscopy
- Juvenile polyposis syndrome
- PTEN-hamartoma tumour syndrome
- Mixed hereditary polyposis syndrome
- NCCN clinical practice guidelines in oncology: genetic/familial high-risk assessment: colorectal
- Clinical practice guidelines for the prevention, early detection and management of colorectal cancer
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