From the Guidelines
Screening for Peutz-Jeghers syndrome (PJS) is recommended to commence at the age of 8 years in asymptomatic patients, with GI surveillance by upper GI endoscopy, colonoscopy, and video capsule endoscopy (VCE), and small bowel surveillance should continue 3 yearly. This recommendation is based on the 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) 1. The cumulative intussusception risk is estimated at 50–68% during childhood, with 15–30% requiring surgery before the age of 10 years, highlighting the importance of early surveillance.
Key components of the screening protocol include:
- Upper GI endoscopy and colonoscopy, which can be safely deferred until the age of 18 years if baseline examinations are normal, but should be repeated 3 yearly if polyps are found at baseline examination
- Video capsule endoscopy (VCE) and MRI enterography, which are better tolerated by patients and have similar accuracy in detecting clinically significant polyps
- Earlier investigation of the GI tract should be performed in symptomatic patients
It is also important to note that double balloon enteroscopy (DBE) should not be recommended as a surveillance tool due to its technical challenges and limitations 1. Additionally, family members of affected individuals should undergo genetic testing to determine if they carry the mutation, as PJS follows an autosomal dominant inheritance pattern with variable penetrance. Early detection is crucial as PJS carries an increased risk of hepatobiliary cancers and gastrointestinal stromal tumors, with early intervention significantly improving prognosis.
In comparison to other guidelines, such as those from the Clinical Gastroenterology and Hepatology journal 1, the recommended screening protocol may vary, but the overall goal of early detection and surveillance remains the same. However, the most recent and highest quality study, as cited in 1, should be prioritized in guiding clinical practice.
From the Research
Screening Recommendations for Peutz-Jeghers Syndrome
The screening recommendations for Peutz-Jeghers syndrome (PJS) are crucial due to the increased risk of developing various types of cancers, such as colorectal, pancreatic, gastric, and breast cancer 2. Key aspects of screening include:
- Regular surveillance of gastrointestinal polyps to decrease the risk of bowel obstruction and intussusception 2, 3
- Use of techniques like double-balloon enteroscopy for the diagnosis and treatment of small bowel polyps 4
- Implementation of a dedicated screening program using capsule endoscopy and/or magnetic resonance enterography every 2-3 years to detect small bowel polyps 5
- Consideration of intraoperative enteroscopy or surgical resection in cases where complete treatment cannot be achieved through conventional endoscopic resection 5
Importance of Early Screening
Early screening is essential in PJS due to the potential for cancer development at a young age, as evidenced by a reported case of small bowel cancer in a 7-year-old boy with PJS 6. This highlights the need for: