The risk of gastrointestinal carcinoma in familial juvenile polyposis

Background: Familial juvenile polyposis (JP) is an autosomal dominant condi tion in which affected individuals develop upper or lower gastrointestinal (GI) juvenile polyps, or both, and have a predisposition to cancer of the g astrointestinal tract. The risk of GI cancer has not been well defined beca use of the small number of these families and the lack of follow-up. The ob jective of this study was to determine the prevalence and age at diagnosis of GI polyposis and cancer in a large JP kindred. Methods: Medical records were reviewed, patients were interviewed, and hist ories were taken. Pathology reports and slides were reviewed by our patholo gists. A database was created for analysis of clinical and pathologic facto rs. Results: This kindred contains 117 members, 29 of whom have had upper or lo wer GI polyps or cancer, or both. All those affected have had colonic juven ile polyps or cancer, except for two who died of advanced gastric cancer an d never had colonic evaluation. Nine individuals have had both upper and lo wer GI polyps or cancer. Sixteen of 29 (55%) affected patients have develop ed gastrointestinal cancer. Eleven (38%) have had colon cancer, and six (21 %) have had upper GI cancers. Conclusions: The risk of gastrointestinal malignancy in affected members of this JP kindred exceeds 50%. The high risk of GI cancer warrants frequent endoscopic screening of both affected and at-risk family members. Screening will soon be facilitated by presymptomatic genetic testing for the identif ication of gene carriers.