A Case of Multiple Endocrine Neoplasia Type 1 with a Novel Mutation in the MEN1 gene

Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant disorder. However, approximately 15% of patients with MEN1 may have a sporadic form of the disease. MEN1 is characterized by tumor formation in multiple endocrine and non-endocrine organs that mainly include the parathyroid gland, pancreatic islets, and pituitary gland. The gene associated with MEN1 is the MEN1 gene that encodes a 610-amino acid polypeptide called menin. The MEN1 gene is located on chromosome 11q13 and acts as a tumor suppressor since its expression can repress JunD-dependent transcription. Thus far, nearly 500 different germline mutations of the MEN1 gene have been reported. Here, we describe the case of a 30-year-old man diagnosed with MEN1 presenting pancreatic insulinoma, parathyroid adenoma, and a pituitary tumor. Genetic alteration of the MEN1 gene (menin) was studied using leukocyte genomic DNA, and a novel mutation in the MEN1 gene (exon 3, c.514delG; p.Asp172Metfs*13) was detected in the patient.