FaCD Online Syndrome Fact Sheet

Last updated: 05 Apr 2008

Name: Familial Giant Hyperplastic Polyposis syndrome

Mode of Inheritance: AD

Tumor features

colorectal adenomas
colorectal cancer
intestinal hyperplastic polyps


Jeevaratnam et al.[1] reported a family in which a mother and 3 of her 5 daughters and 2 of her 5 sons developed colon cancer. The mother was diagnosed at age 34, the others between 49 and 74 years. The tumors from 3 out of 4 of these relatives studied displayed no microsatellite instability. Large hyperplastic polyps, mixed adenomatous-hyperplastic polyps and adenomas were observed in several relatives. The authors suggest that all of these 3 types may transform into malignancies and suggest that this family represents a rare autosomal dominant disorder predisposing to colorectal cancer.

Warner et al.[2] reported on a 56-year-old male with 16 large hyperplastic colorectal polyps, a tubular adenoma and a colorectal carcinoma. No information was given on the family history.

Whether familial giant hyperplastic polyposis is a genetic entity distinct from conditions like e.g. hyperplastic polyposis, serrated adenomatous polyposis, mixed polyposis remains to be clarified.


[1] Jeevaratnam P, Cottier DS, Browett PJ, van de Water NS, Pokos V, Jass JR. Familial giant hyperplastic polyposis predisposing to colorectal cancer: A new hereditary bowel cancer syndrome. J Pathol 179[1], 20-25. 1996.
[2] Warner AS, Glick ME, Fogt F. Multiple large hyperplastic polyps of the colon coincident with adenocarcinoma. Am J Gastroenterol 1994; 89(1):123-125.