Summary
Definition
History and exam
Key diagnostic factors
- small intestinal obstruction
- mucocutaneous pigmentation
Other diagnostic factors
- abdominal discomfort and distension
- abdominal pain
- gastrointestinal bleeding
- polyp prolapse per anus
- enlarged testicles (without masses)
- bilateral gynecomastia
- fatigue
- pallor
Risk factors
- positive family history
- germline STK11 gene mutation
Diagnostic investigations
1st investigations to order
- endoscopy
- magnetic resonance enterography
- polyp histology
- STK11 genetic testing
Treatment algorithm
initially confirmed polyposis: symptomatic or asymptomatic
following initial surveillance colonoscopy
Contributors
Authors
Luke Engelking, MD
Associate Professor of Internal Medicine
UT Southwestern Medical Center
Dallas
TX
Disclosures
LE is a Principal Investigator for, and has received grant support from, the National Institutes of Health-National Institute of Diabetes and Digestive and Kidney Diseases (NIH-NIDDK) and the Cancer Prevention and Research Institute of Texas.
Po-Hong Liu, MD
Fellow
UT Southwestern Medical Center
Dallas
TX
Disclosures
PL declares that he has no competing interests.
Acknowledgements
Dr Luke Engelking and Dr Po-Hong Liu would like to gratefully acknowledge Dr Brandie Heald, Dr James Church, and Dr Carol A. Burke, previous contributors to this topic.
Disclosures
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. JC declares that he has no competing interests. CAB receives research support from Cancer Prevention Pharmaceuticals.
Peer reviewers
Daniel Von Allmen, MD
Chief of Pediatric Surgery
University of North Carolina
Chapel Hill
NC
Disclosures
DVA declares that he 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
Key articles
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
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
van Leerdam ME, Roos VH, van Hooft JE, et al. Endoscopic management of polyposis syndromes: European Society of Gastrointestinal Endoscopy (ESGE) guideline. Endoscopy. 2019 Sep;51(9):877-95.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
National Comprehensive Cancer Network. NCCN clinical practice guidelines in oncology: genetic/familial high-risk assessment: colorectal [internet publication].Full text
Reference articles
A full list of sources referenced in this topic is available to users with access to all of BMJ Best Practice.
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