Highlights & Basics
- 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 extraintestinal (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.
Quick Reference
History & Exam
Key Factors
Other Factors
Diagnostics Tests
Treatment Options
Definition
Epidemiology
Etiology
Pathophysiology
Images
Characteristic pigmentation present on lips and buccal mucosa
Small bowel hamartomatous polyp identified on capsule endoscopy
Polypoid mass in the small bowel
Characteristic serosal dimpling resulting from a pedunculated hamartoma in the small bowel of a patient with PJS
Histology of a hamartomatous polyp
Intraoperative endoscopy
Hamartomatous polyp harvest following "clean sweep"
Citations
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.[Abstract][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.[Abstract][Full Text]
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.[Abstract][Full Text]
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.[Abstract][Full Text]
National Comprehensive Cancer Network. NCCN clinical practice guidelines in oncology: genetic/familial high-risk assessment: colorectal [internet publication].[Full Text]
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