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Peutz-Jeghers syndrome

  • Overview
  • Theory
  • Diagnosis
  • Management
  • Follow up
  • Resources
Last reviewed: 11 Jul 2025
Last updated: 25 Jul 2025

Summary

Definition

History and exam

Key diagnostic factors

  • small intestinal obstruction
  • mucocutaneous pigmentation
Full details

Other diagnostic factors

  • abdominal discomfort and distension
  • abdominal pain
  • gastrointestinal bleeding
  • polyp prolapse per anus
  • enlarged testicles (without masses)
  • bilateral gynecomastia
  • fatigue
  • pallor
Full details

Risk factors

  • positive family history
  • germline STK11 gene mutation
Full details

Diagnostic tests

1st tests to order

  • endoscopy
  • magnetic resonance enterography
  • polyp histology
  • STK11 genetic testing
Full details

Treatment algorithm

ACUTE

initially confirmed polyposis: symptomatic or asymptomatic

ONGOING

following initial gastrointestinal surveillance

Contributors

Authors

Luke Engelking, MD

Associate Professor of Internal Medicine

UT Southwestern Medical Center

Dallas

TX

Disclosures

LE is a member of the Advisory Board for the Mayberry Memorial Foundation, a local nonprofit working to raise awareness of Lynch syndrome, for which he does not receive payment. He is the site Principal Investigator for a clinical trial in Familial adenomatous polyposis. He owns regular stock in Archer Daniels Midland, Howard Hughes Holdings and Target. He has previously owned regular stock in Merck & Co.

Acknowledgements

Dr Luke Engelking would like to gratefully acknowledge Dr Thien An Mai Hoang’s contribution to this topic.

Dr Engelking would also like to acknowledge Dr Po-Hong Liu, Dr Brandie Heald, Dr James Church, and Dr Carol A. Burke, previous contributors to this topic.

Disclosures

TAMH declares that she has no competing interests. BH declares that she has received payment from the following but has no contractual agreement to disseminate product information for them: Speakers Bureau Myriad Genetics Lab, and the advisory board for Invitae. BH is also President of the Collaborative Group of the Americas on Inherited Colorectal Cancer, for which she does not receive payment. CAB receives research support from Cancer Prevention Pharmaceuticals. PL and JC declare that they have no competing interests.

Peer reviewers

Suzanne MacFarland, MD, MTR

Assistant Professor of Pediatrics

University of Pennsylvania Perelman School of Medicine and Children's Hospital of Philadelphia

Philadelphia

PA

Disclosures

SM declares that she has no competing interests.

Patrick Morrison, MD

Consultant in Clinical Genetics

Department of Medical Genetics

Belfast HSC Trust

Belfast

UK

Disclosures

PM declares that he has no competing interests.

References

Our in-house evidence and editorial teams collaborate with international expert contributors and peer reviewers to ensure that we provide access to the most clinically relevant information possible.

Key articles

Syngal S, Brand RE, Church JM, et al; American College of Gastroenterology. ACG clinical guideline: genetic testing and management of hereditary gastrointestinal cancer syndromes. Am J Gastroenterol. 2015 Feb;110(2):223-62.Full text  Abstract

Boland CR, Idos GE, Durno C, et al. Diagnosis and management of cancer risk in the gastrointestinal hamartomatous polyposis syndromes: recommendations from the US Multi-Society Task Force on Colorectal Cancer. Gastroenterology. 2022 Jun;162(7):2063-85.Full text  Abstract

National Comprehensive Cancer Network. NCCN clinical practice guidelines in oncology: genetic/familial high-risk assessment: colorectal, endometrial, and gastric [internet publication].Full text

Monahan KJ, Bradshaw N, Dolwani S, et al. Guidelines for the management of hereditary colorectal cancer from the British Society of Gastroenterology (BSG)/Association of Coloproctology of Great Britain and Ireland (ACPGBI)/United Kingdom Cancer Genetics Group (UKCGG). Gut. 2020 Mar;69(3):411-44.Full text  Abstract

Wagner A, Aretz S, Auranen A, et al. The management of Peutz-Jeghers syndrome: European Hereditary Tumour Group (EHTG) guideline. J Clin Med. 2021 Jan 27;10(3):473.Full text  Abstract

Reference articles

A full list of sources referenced in this topic is available to users with access to all of BMJ Best Practice.
  • Peutz-Jeghers syndrome images

  • Differentials

    • Juvenile polyposis syndrome
    • PTEN-hamartoma tumor syndrome
    • Mixed hereditary polyposis syndrome
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  • Guidelines

    • NCCN clinical practice guidelines in oncology: genetic/familial high-risk assessment: colorectal, endometrial, and gastric
    • Pediatric cancer screening in hereditary gastrointestinal cancer risk syndromes: an update from the AACR Childhood Cancer Predisposition Working Group
    More Guidelines

  • Patient information

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    Colon and rectal cancer: what treatments work?

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