ESPGHAN Juvenile Polyposis Syndrome in Children –Position Paper

Management of Juvenile Polyposis Syndromes in Children and Adolescents: A Position Paper from the ESPGHAN Polyposis Working Group: Link: JPGN 2019; 68 (3): 453-462

Diagnosis: JPS is diagnosed by use of the following criteria in the absence of  extraintestinal features consistent with PHTS (Cowden syndrome [CS] or Bannayan-Riley-Ruvalcaba syndrome) (6):
1. Five or more JPs of the colon or rectum, or
2. JPs in other parts of the GI tract, or
3. Any number of JPs and a positive family history.

1. Routine predictive genetic testing for paediatric patients at risk of developing JPS should start at 12 to 15 years of age. Children that develop rectal bleeding earlier than this age should undergo colonoscopy and then proceed to genetic testing if polyps are identified. Weak recommendation, very low quality of evidence.
2. Colonoscopic surveillance should commence from age 12 to 15 years, or earlier if symptomatic. Once polyps (>10 mm) are detected they should be removed and olonoscopy repeated annually until polyps >10 mm have been resected, then
repeated every 1 to 5 years. Weak recommendation, very low quality of evidence.
3. Surveillance of the upper GI tract in affected or at-risk JPS patients is not required in childhood or teenage years, unless there is unexplained anaemia or upper GI symptoms. Weak recommendation, very low quality of evidence.
4. Paediatric patients with SMAD4 mutation should be evaluated for HHT including screening and preventative treatment for cerebral and pulmonary AVMs. Weak recommendation, very low quality of evidence.
5. In JPS patients with an isolated BMPR1A gene mutation, there are no additional investigations required beyond the endoscopic procedures described above. Children with BMPR1A mutation and early onset polyposis and/or a severe phenotype and/or
extraintestinal manifestations should be evaluated for PTEN mutation. Weak recommendation, very low quality of evidence.
6. In a child with a single JP, a repeat colonoscopy is not routinely required. Weak recommendation, very low quality of evidence.
7. If a specific gene mutation has been detected in a child, then genetic testing should be offered to all first-degree family members. If no specific gene mutation was detected, then first degree relatives should be referred for screening colonoscopy at the age of 12 to 15 years. Weak recommendation, very low quality of evidence.
8. There is no role for chemoprevention in JPS. Weak recommendation, very low quality of evidence.

Related blog postUpdated Guidelines on Genetic Testing/management for Hereditary GI Cancer Syndromes

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Disclaimer: These blog posts are for educational purposes only. Specific dosing of medications (along with potential adverse effects) should be confirmed by prescribing physician.  This content is not a substitute for medical advice, diagnosis or treatment provided by a qualified healthcare provider. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a condition.

9 thoughts on “ESPGHAN Juvenile Polyposis Syndrome in Children –Position Paper

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