SMAD4-related juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome presenting as metastatic adenocarcinoma of the colon in a teenager - A case report

Juvenile polyposis syndrome (JPS, OMIM #174900) is a hereditary condition characterized by an increased risk to develop multiple hamartomatous polyps throughout the gastrointestinal tract, typically with polyps being present by 20 years of age. These polyps are at risk for malignant transformation with some estimates in the literature of around 20% incidence of colorectal cancer (CRC) by 35 years of age and close to 70% by 60 years of age. The average age of CRC diagnosis in affected individuals is between 42-44 years of age.