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Molecular characterization of colonic adenomatosis-pilomatricomatosis syndrome and pilomatricomatoses

Jean-Christophe Fournet, MD., Centre de Recherche Hôpital Sainte-Justine, Montreal, QC.

We have recently identified a new clinical entity that could be a still unrecognized disease. This disease associates in one individual or one family multiple benign cutaneous tumors called pilomatricomas, and multiple benign polyps in the colon, called colonic adenomas, that could predispose to colorectal cancer.

The purpose of our work is to identify the gene responsible for this newly recognized disease. For that, we have set a list of target genes in which we suspect mutations. These mutations will be searched in the DNA extracted from the blood of patients (constitutional DNA) and from the tumoral cells (tumoral DNA). We also try to detect DNA rearrangements in the tumoral DNA isolated after laser microdissection of tumoral cells. This will permit identification of a new predisposition to colorectal cancer that can be detected by cutaneous lesions, i.e. easily detectable. It will permit an earlier detection of colorectal cancer and appropriate management of these patients.

(C2006)