Peutz-Jeghers syndrome

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 extra-intestinal (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 characterised 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 extra-intestinal malignancies.[1]van Lier MG, Wagner A, Mathus-Vliegen EM, et al. High cancer risk in Peutz-Jeghers syndrome: a systematic review and surveillance recommendations. Am J Gastroenterol. 2010 Jun;105(6):1258-64. http://www.ncbi.nlm.nih.gov/pubmed/20051941?tool=bestpractice.com Colorectal and breast malignancies occur most frequently, followed by cancers of the small bowel, stomach, and pancreas.[1]van Lier MG, Wagner A, Mathus-Vliegen EM, et al. High cancer risk in Peutz-Jeghers syndrome: a systematic review and surveillance recommendations. Am J Gastroenterol. 2010 Jun;105(6):1258-64. http://www.ncbi.nlm.nih.gov/pubmed/20051941?tool=bestpractice.com