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  • Title: Familial giant hyperplastic polyposis predisposing to colorectal cancer: a new hereditary bowel cancer syndrome.
    Author: Jeevaratnam P, Cottier DS, Browett PJ, Van De Water NS, Pokos V, Jass JR.
    Journal: J Pathol; 1996 May; 179(1):20-5. PubMed ID: 8691339.
    Abstract:
    A mother and five of her ten offspring developed colonic cancers, the mother and one of the offspring being younger than 50 years of age at diagnosis. Despite fulfilling the Amsterdam criteria for hereditary non-polyposis colorectal cancer (HNPCC), several features pointed towards the possibility that this represented a different syndrome of familial cancer. Most notable was the presence of large, multiple hyperplastic polyps and mixed polyps in four of the subjects whose pathology was available for review. In addition, three of the four subjects had cancers that were negative for DNA replication errors (RER-). The subject with an RER+ cancer had a second RER+ cancer and three adenomas, one in contiguity with the second cancer. This subject also had multiple, large hyperplastic polyps, thereby combining hyperplastic polyposis and a proneness to multiple RER+ tumours. One of the hyperplastic polyps was also RER+. Two of five young asymptomatic descendants have been found to harbour multiple colorectal polyps. It is suggested that giant hyperplastic polyposis is a new familial syndrome predisposing to colorectal cancer.
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