# Peutz-Jeghers syndrome

Source: https://onco.cc/terms/peutz-jeghers-syndrome/  
OnCo record `peutz-jeghers-syndrome` (Term). Data CC BY-NC 4.0, attribute "Data from OnCo (onco.cc)"; commercial use needs a licence.

## TL;DR

Peutz-Jeghers syndrome is an inherited condition, caused by a fault in the STK11 gene, that causes freckling of the lips and mouth and polyps in the bowel from childhood, and raises the risk of several cancers in adult life. Checks of the gut start at about eight years old, and removing large polyps prevents the bowel from telescoping into itself.

## Summary

Autosomal dominant, caused by pathogenic variants in STK11 (LKB1), including whole-gene deletions. Hamartomatous polyps with broad bands of smooth muscle, mucocutaneous pigmentation, and intussusception: over 20% by age 10 and over 50% by 20 (AACR 2024). In a cohort of 419 patients the luminal gastrointestinal cancer risk was 1%, 9%, 15%, 33% and 57% at 30, 40, 50, 60 and 70 years (cited in BSG 2020); pancreatic and breast cancers are now among the commonest malignancies.

BSG 2020: upper endoscopy, colonoscopy and video capsule endoscopy from age 8 in people without symptoms, small bowel surveillance three-yearly; if the baseline is clear, colonoscopy and upper endoscopy can wait until 18; elective removal of small bowel polyps over 1.5 to 2 cm prevents intussusception. The AACR 2024 update adds teaching families the signs of intussusception, MR enterography where capsule endoscopy is not available, annual examination of growth, breast tissue and testicular volume in boys (large-cell calcifying Sertoli cell tumours in about 9%) and pelvic ultrasound in girls with early puberty (sex cord tumours with annular tubules in 10 to 20%), and adult screening for breast, gynaecological, pancreatic and lung cancers from 25 or later. The CAPS consortium (2020) recommends pancreatic surveillance for every Peutz-Jeghers patient regardless of family history, starting at 40.

## Fields

- Kind: Term
- Last checked: 2026-11-04
- Also known as: PJS; Peutz-Jeghers
- Tags: gap-fill; hereditary

## Notes

- NHS England genomic test directory: R212 (STK11). Orphanet ORPHA:2869.

## Sources

- Wikipedia: https://en.wikipedia.org/wiki/Peutz–Jeghers_syndrome
- Monahan, Gut 2020: BSG, ACPGBI and UKCGG guidelines for the management of hereditary colorectal cancer: https://doi.org/10.1136/gutjnl-2019-319915
- MacFarland, Clin Cancer Res 2024: paediatric screening in hereditary gastrointestinal cancer syndromes (AACR update): https://doi.org/10.1158/1078-0432.ccr-24-0953
- Goggins, Gut 2020: CAPS consortium recommendations for people at increased risk of pancreatic cancer: https://doi.org/10.1136/gutjnl-2019-319352
- Orphanet ORPHA:2869: https://www.orpha.net/en/disease/detail/2869
- NHS England National Genomic Test Directory, rare and inherited disease, version 9 (spreadsheet): https://www.england.nhs.uk/wp-content/uploads/2018/08/rare-and-inherited-disease-national-genomics-test-directory-v9.xlsx

## Connected records

- cancers: [Pancreatic ductal adenocarcinoma](https://onco.cc/cancers/pancreatic/), [Sertoli cell tumour of the testis](https://onco.cc/cancers/sertoli-cell-tumour/)
- technologies: [Capsule endoscopy (PillCam, EndoCapsule, CapsoCam)](https://onco.cc/technologies/capsule-endoscopy-systems/), [Germline (hereditary) testing](https://onco.cc/technologies/germline-testing/), [High-risk pancreatic surveillance (CAPS / PRECEDE)](https://onco.cc/technologies/pancreatic-surveillance/)
- targets: [STK11](https://onco.cc/targets/stk11/)
- terms: [Colonoscopy](https://onco.cc/terms/colonoscopy/), [Endoscopy (EGD, EUS, ERCP)](https://onco.cc/terms/endoscopy/), [Hereditary cancer syndromes](https://onco.cc/terms/hereditary-cancer-syndromes/)
- key papers: [Management of patients with increased risk for familial pancreatic cancer: updated recommendations from the International Cancer of the Pancreas Screening (CAPS) Consortium](https://onco.cc/key-papers/paper-caps-consortium-surveillance-recommendations-gut-2020/)
- drugs: [CancerNext and CancerNext-Expanded (Ambry Genetics)](https://onco.cc/drugs/ambry-cancernext/), [Color Hereditary Cancer Test](https://onco.cc/drugs/color-hereditary-cancer-test/), [Invitae Common Hereditary Cancers Panel](https://onco.cc/drugs/invitae-common-hereditary-cancers-panel/)

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