Gene diagnosis and clinical management of multiple endocrine neoplasia type 1 (MEN1).

Identification of the MEN1 gene as a disease gene for multiple endocrine neoplasia type 1 (MEN1) has made it possible to predict whether a family member of an MEN1 patient will suffer from the same disease. MEN1 mutations have been found in almost all cases with familial MEN 1, but in fewer cases with sporadic MEN1. We analyzed MEN1 mutations in the largest number of Japanese MEN1 patients, 17 families and 21 sporadic cases, and found 54 MEN1 mutant carriers and 30 non-carriers. Furthermore, we identified a MEN1 phenocopy: GH-secreting pituitary tumor and primary hyperparathyroidism, which develops at older ages. In this article, we discuss how to utilize MEN1 gene diagnostics for the clinical management of MEN 1 patients and MEN1 mutation carriers.