Peutz-Jeghers syndrome

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.[1]Giardiello FM, Bresinger JD, Tersmette AC, et al. Very high risk of cancer in familial Peutz-Jeghers syndrome. Gastroenterology. 2000 Dec;119(6):1447-53. http://www.ncbi.nlm.nih.gov/pubmed/11113065?tool=bestpractice.com