Recent advances in multiple endocrine neoplasia type I

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Abstract
The gene responsible for multiple endocrine neoplasia type 1 (MEN 1), a familial neoplasia syndrome involving mainly the parathyroid glands, endocrine enteropancreas, and anterior pituitary gland, has recently been identified. This has allowed mutation analysis of the MEN1 gene in MEN 1 families, families with MEN 1 -like syndromes, sporadic MEN 1 cases, and tumors. A wide spectrum of mutations distributed across the nine coding exons have been found in all except MEN 1 -like syndromes. However, so far there is no obvious genotype-phenotype correlation. This article summarizes these recent developments, especially in regard to the clinical and genetic aspects of MEN 1, and discusses their impact on clinical application and future research.

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