Multiple Endocrine Neoplasia Type

Geoffrey B. Thompson, MD ■ William F. Young, Jr., MD

Multiple endocrine neoplasia type 1 (MEN 1) is an autosomal dominant-inherited disorder affecting tumorigenesis in at least eight endocrine and nonendocrine tissues whose components were first recognized in the early 20th century. In 1903, Erdheim1 described a patient with a pituitary adenoma and parathyroid hyperplasia discovered at autopsy. Gerstel2 reported on a patient with acromegaly and a severe peptic ulcer diathesis in 1938. Wermer,3 in 1954, identified the autosomal dominant nature of the disease that bears his name (Werner's syndrome, now referred to as MEN 1). Children of an affected parent have a 50% chance of inheriting the disease predisposition that is noted to be highly penetrant. Larsson and associates,4 in 1988, mapped the gene associated with MEN 1 {MENI) to the long arm of chromosome 11 (1 lql3). MEN1 is a tumor suppressor and encodes a widely expressed protein called menin. Clinical expression of the genotype requires not only inheritance of an MEN I germline mutation but also inactivation of the wild-type MEN I allele derived from the unaffected parent.5"7 Mutations in the gene lead to widespread endocrine tumorigenesis. Approximately 90% of affected kindred members have mutations detectable by genetic testing, and the phenotype develops in virtually all individuals with germline mutations.

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