Gynecological malignancies, brain tumors, and familial adenomatous polyposis

The syndrome of familial adenomatous polyposis has a wide spectrum of clinical manifestations including adenomatous polyps of the colon and small bowel, adenocarcinoma of ampulla of Vater, tumors of the central nervous system, bone lesions, and various soft tissue tumors. The one common denominator is colonic polyposis. It is not known whether this phenotypic heterogeneity is due to various genotypes, or if the entire clinical spectrum is due to one genetic defect. We are reporting the association of gynecologic malignancies with familial adenomatous polyposis as an additional variant of this disease. This report is on two sisters from a family with familial polyposis coli who developed adenomatous polyposis of the colon, central nervous system tumors, and cancers of the ovary and uterus. The gynecological malignancies add another variant to this clinical syndrome.