Intestinal polyposis and brain tumor in a family

Abstract

INHERITED MULTIPLE POLYPOSIS of the colon comprises a group of disorders in which large numbers (usually hundreds) of adenomatous neoplasms, generally benign and variable in size, arise from the mucosal epithelium either of the entire large intestine, or of a segment (e.g. 50-100 in rectum and sigmold) of the colon with the remaining mucosa being free of the neoplastic changes. 1-s The group includes 1) type I, adenomatosis (multiple polyposis) of the colon and rectum (ACR); 2) type II, Peutz-Jeghers syndrome; 3) type III, Gardner's syndrome; 4) type IV, scattered polyps; 5) type V, Turcot's syndrome; and 6) type VI, colonic polyposis with associated endocrine adenomatosisfi All these distinct types of multiple intestinal polyposis, except Turcot's syndrome, 7,s are inherited as autosomal dominant traits. With the exception of Peutz-Jeghers syndrome, 1 patients who carry any of these mutant genes are at a high risk of developing adenocarcinoma of the colon at a much earlier age than the general population.t,9,10 It is not known whether the genes responsible for these different entities are allelic or non-allelic, or whether they are the variable expression of the same gene. In the family we report, two brothers developed ACR. The propositus was found to have invasive chromophobe adenoma of the pituitary, and follicular adenoma of the thyroid. Their father had adenocarcinoma of the cecum at age 46, with no evidence of intestinal polyposis. This family illustrates the multiple facets of the ACR gene.