Background: Unlike familial polyposis coli, where the premalignant nature of adenomatous polyps is well established, the cancer risk in juvenile polyposis has generally been considered not increased.
Methods: This study reviews all cases of juvenile polyposis reported in the English language to date to assess the occurrence and prognosis of carcinoma in the gastrointestinal tract.
Results: A total of 218 patients met the inclusion criteria. Mean age at diagnosis was 18.5 years (range: 9 months to 67 years). No gender preference was identified. The most common presenting symptom was chronic anemia, followed by acute gastrointestinal bleeding, rectal prolapse of polyp, protein-losing enteropathy, and intussusception. A family history of juvenile polyposis could be established in approximately 50% of patients, and associated congenital malformations were detected in 15%. Ninety-nine patients underwent 138 gastrointestinal operations: 121 colorectal, 12 gastric, and 5 small intestinal procedures. The development of a gastrointestinal carcinoma was reported in 36 cases (17%). Mean age at diagnosis of carcinoma was 35.5 years (range: 4-60 years). Most malignancies were located in the distal colon and rectum, with only one case of gastric and one case of duodenal carcinoma. Tumor stage at diagnosis was usually advanced, with poor survival figures.
Conclusions: This study shows that juvenile polyposis syndromes carry a more significant risk of carcinoma than generally appreciated. Therefore, more intense endoscopic surveillance may be warranted, and definitive surgical options should often be considered in these syndromes.