Juvenile polyposis syndrome with germline SMAD4 mutation: case series in tertiary care and critical review of literature
| Journal | Volume 88 - 2025 |
| Issue | Fasc.3 - Case series |
| Author(s) | F. Vulsteke 1, V. D’Cruz 1, L. Krott 2, S. Moura Ribeiro 1, E. Van Daele 3, B. Poppe 4, B. Menten 4, R. De Putter 4, P. Hindryckx 1, A. Hoorens 5, E. Callebout 1, V. Casneuf 1 6, K. Geboes 1 |
| Full article |
 PAGES 277-280 VIEW FREE PDF |
| DOI | 10.51821/88.3.14375 |
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Affiliations: (1) Department of Gastroenterology, University Hospital Ghent, Ghent, Belgium
(2) Department of Gastroenterology, AZ Sint Blasius, Dendermonde, Belgium (3) Department of Gastrointestinal Surgery, University Hospital Ghent, Ghent, Belgium (4) Centre for Medical Genetics, University Hospital Ghent, Ghent, Belgium (5) Department of Pathology, University Hospital Ghent, Ghent, Belgium (6) Department of Gastroenterology, AZorg, Aalst, Belgium |
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Background: Juvenile polyposis syndrome (JPS) is a rare autosomal dominant disorder characterized by the presence of multiple hamartomatous polyps in the gastro-intestinal (GI) tract with an increased risk for developing GI cancer. Two causative genes have been identified, of which SMAD4 germline mutations show more upper GI tract involvement and appears to be a more aggressive form. In addition, SMAD4 JPS is linked with hereditary haemorrhagic telangiectasia (HHT). Case history: We present 4 patients in our tertiary care hospital with a challenging treatment of extensive gastric polyposis who all had a late diagnosis, some of them despite the early discovery of polyposis or colon tumors Conclusion: Diagnosing SMAD4 JPS can be challenging but is important for the management of patients. The malignant potential in the upper GI tract is underestimated in clinical practice. Germline genetic analysis should be awaited before performing surgical interventions. Keywords: Juvenile polyposis syndrome, SMAD4 germline mutation, massive gastric polyposis, JPS-HHT overlap syndrome. |
| The authors declare that they have no conflict of interest. |
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© Acta Gastro-Enterologica Belgica. PMID 41083172 |