Juvenile polyposis syndrome with germline SMAD4 mutation: case series in tertiary care and critical review of literature.

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.