Colorectal cancer

Peutz-Jeghers syndrome

From Cancer Guidelines Wiki

Background[edit source]

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.[1][2] 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. [2]

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Management[edit source]

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.[1][2] See Guidelines Development for more information.

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Screening[edit source]

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.[1][2] It should be repeated at least every 3 years indefinitely.

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Genetic testing[edit source]

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[2] In 38–50% of cases pathogenic mutations are de novo rather than inherited.[2]. Many are deletions which are not picked up on sequencing, this requiring MLPA.

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Surveillance[edit source]

Colonoscopy should be performed at age 8 years and then 3 yearly from age 18.[1]

Surveillance for gastrointestinal polyps
  • Starting at age 8 years of age (or earlier with onset of symptoms)
    • annual haemoglobin
    • baseline Video Capsule Endoscopy (VCE) or Magnetic Resonance Endoscopy (MRE) repeated every 3 years
    • baseline gastroduodenoscopy and colonoscopy
      • if no polyps found: recommence at 18 years and repeat every 3 years
      • if polyps are found screening should occur at least every 3 years or more frequently as determined by polyp load

Next section: Juvenile polyposis syndrome
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References[edit source]

  1. 1.0 1.1 1.2 1.3 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 Available from:
  2. 2.0 2.1 2.2 2.3 2.4 2.5 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:

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