Molecular Pathology of the MEN1 Gene

摘要: Abstract: Multiple endocrine neoplasia type 1 (MEN1), among all syndromes, causes tumors in the highest number of tissue types. Most are hormone producing (e.g., parathyroid, enteropancreatic endocrine, anterior pituitary) but some not angiofibroma). MEN1 multiple for organ type, regions a discontinuous organ, and subregions continuous organ. Cancer contributes to late mortality; there is no effective prevention or cure cancers. Morbidities more frequent from benign than malignant tumor, both indicators screening. Onset age usually earlier tumor nonhereditary cases. Broad trends contrast with those nonneoplastic excess hormones persistent hyperinsulinemic hypoglycemia infancy). germline somatic mutations gene predict truncation absence encoded menin. Similarly, 11q13 loss heterozygosity predicts inactivation other copy. mutation prevalent nonhereditary, MEN1-like Compiled show almost genotype/phenotype relation. Normal menin 67 kDa, widespread, mainly nuclear. It may partner junD, NF-kB, PEM, SMAD3, RPA2, FANCD2, NM23β, nonmuscle myosin heavy chain II-A, GFAP, and/or vimentin. These partners have clarified menin's pathways normal tissues. Animal models opened approaches pathways. Local overexpression Drosophila reveals its interaction jun-kinase pathway. The Men1+/− mouse has robust MEN1; most important difference human marked hyperplasia pancreatic islets, precursor stage.