Screening-detected breast carcinoma in a patient with Cowden syndrome

Abstract

Cowden syndrome is a hereditary genetic disease whose incidence is still not precisely defined; it is due to a germline mutation in the PTEN gene. We reported a case of breast tumor caused by a PTEN gene mutation, which was detected within a National Screening Program; the diagnosis of Cowden syndrome was made on the basis of patient's particular clinical history. The identification of new genetic mutations has allowed clarification of some of the mechanisms that increase the risk of developing some types of tumors. Furthermore, new kind of mutations recently reported in the literature raise questions about their prognostic significance and how their carriers can be better screened, counseled and managed. These problematic issues will be encountered with increasing frequency in the near future, since many other more mutations are sure to be discovered. The PTEN gene mutation has been implicated in various human tumors, mainly in the breast and the thyroid gland. In the course of a screening program, the early identification of patients affected by a genetic mutation, which is rare, improves the definition of the prognosis and the therapeutic options.