Peutz-Jeghers syndrome is an autosomal dominant disorder in which hamartomatous polyps can occur throughout the gastrointestinal tract. These polyps are histologically distinctive for Peutz-Jeghers syndrome and most patients also have characteristic mucocutaneous pigmentation. There is an elevated risk of many cancers including a 39% lifetime risk of colorectal cancer. In addition, there is a risk of small bowel intussusception.
The lifetime risk of all gastrointestinal cancers is estimated to be 57% with a 39% risk of colorectal cancer included in this. The risk of breast cancer is 45% (similar to BRCA mutation risk women) and gynaecological cancer 18% and surveillance for these cancers is recommended. There is also a 11–26% lifetime risk of pancreatic cancer. 
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No systematic reviews on this topic were undertaken in the development of this section. The guidance on Peutz-Jeghers syndrome is based on recent international guidelines. See Guidelines Development for more information.
ScreeningPerforming tests to identify disease in people before any symptoms appear.
Video capsule endoscopy or magnetic resonance enterography should be used to screen for small intestinal polyps from age 8–10 years or earlier if there are symptoms. It should be repeated at least every 3 years indefinitely.
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Genetic testing is indicated to confirm the diagnosis and in relatives of known mutation carriers. Over 90% of patients meeting the clinical criteria for Peutz-Jeghers syndrome have an identifiable pathogenic mutation in the STK11 gene In 38–50% of cases pathogenic mutations are de novo rather than inherited.. Many are deletions which are not picked up on sequencing, this requiring MLPA.
SurveillanceColonoscopyAn examination of the large bowel using a camera on a flexible tube, which is passed through the anus. should be performed at age 8 years and then 3 yearly from age 18.
|Surveillance for gastrointestinal polyps||
Next section: Juvenile polyposis syndrome
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- Syngal S, Brand RE, Church JM, Giardiello FM, Hampel HL, Burt RW, et al. ACG clinical guideline: Genetic testing and management of hereditary gastrointestinal cancer syndromes. Am J Gastroenterol 2015 Feb;110(2):223-62; quiz 263 Abstract available at http://www.ncbi.nlm.nih.gov/pubmed/25645574.
- Cancer Institute NSW. eviQ Cancer Genetics Referral Guidelines for Colorectal Cancer or Polyposis Risk Assessment and Consideration of Genetic Testing. [homepage on the internet] Sydney; 2016 [cited 2016 Sep 6]. Available from: https://www.eviq.org.au/Category/tabid/65/categoryid/6/Default.aspx.