Genetic screening for multiple endocrine neoplasia type 2.

Abstract

Multiple endocrine neoplasia type 2 (MEN 2) is a dominantly inherited cancer syndrome, in which the component tumours involve the C cells of the thyroid, the adrenal medulla, and the parathyroid. Three inherited varieties are distinguished on clinical grounds. Current evidence suggests that at least two of these are due to mutation at the same or closely adjacent loci on chromosome 10 (Norum et al., 1990). Men 2A. This is the commonest form (Table 1). It is important to note that not everyone who inherits the MEN 2 gene develops clinically significant disease. Figure 1 gives the ageincidence curves for presentation of MEN 2A with clinical disease and for detection by biochemical screening (Easton