New phenotypic aspects in a family with Lynch syndrome II.

Increasing attention has been given to hereditary nonpolyposis colorectal cancer (HNPCC). This report provides medical genetic/pathologic findings on an HNPCC kindred from southern Italy that shows criteria consistent with Lynch syndrome II. An international collaborative effort led to extension of this kindred with disclosure of a potentially new spectrum of phenotypic findings: an excess of gastric carcinoma; complete intestinal metaplasia and chronic atrophic gastritis restricted to the antrum; an apparent excess of colonic mucosal macrophagia, which by special stain appeared to be positive for mucin, with a constant content of both sialo and sulfomucin, a lack of iron, and an inconstant positivity for lysozyme obtained by immunoperoxidase technique; and findings of crypt atrophy of the colonic mucosa. During the relatively short period of investigation of this family, an intensive educational and surveillance program has been mounted in the interest of improving cancer control through direct application of knowledge of natural history and the risk factor evidence through pedigree assessment.

Study of influence of sex and age on human serum lysosomal enzymes by using 4-methylumbelliferyl substrates.

The sex and age dependence of activity of eight glycosidases and acid phosphatase was assayed in serum samples using the 4-methylumbelliferyl substrates. The activity of these enzymes does not change in relation to sex and to age except for acid phosphatase and beta-galactosidase which show significantly higher values in children as compared to adults. The usefulness of the 4-MU substrates for the detection of homozygotes for those lysosomal diseases involving one of the glycosidases studied is discussed.