Multiple endocrine neoplasia type 1: new clinical and basic findings

Multiple endocrine neoplasia type 1 (MEN1) provides a prime example of how a rare disease can advance our understanding of basic cell biology, neoplas ia and common endocrine tumors. MEN1 is expressed mainly as parathyroid, en teropancreatic neuroendocrine, anterior pituitary and foregut carcinoid tum ors. It is an autosomal dominant disease caused by mutation of the MEN1 gen e. Since its identification, the MEN1 gene has been implicated in many comm on endocrine and non-endocrine tumors. This is a brief overview of recent s cientific advances relating to MEN1, including newly recognized clinical fe atures that are now better characterized by genetic analysis, insights into the function of the MEN1-encoded protein menin, and refined recommendation s for mutation testing and tumor screening, which highlight our increasing understanding of this complex syndrome.