A concise genetic and clinical guide to multiple endocrine neoplasias and related syndromes

Several familial neoplastic syndromes are associated with endocrine gland o ncogenesis, The main ones are: multiple endocrine neoplasia type 1 (MEN 1), which affects primarily the pituitary, pancreas, and parathyroid glands; M EN 2A and MEN 2B, which involve mainly the thyroid and parathyroid glands a nd the adrenal medulla; familial medullary thyroid carcinoma (FMTC), which affects only the thyroid gland; and, finally, Carney complex, which affects the adrenal cortex, pituitary, thyroid gland, and the gonads. Carney compl ex is also associated with pigmentation abnormalities and myxoid and other neoplasms of mesenchymal origin. Thus, this syndrome also belongs to anothe r group of genetic disorders, those associated with pigmentation defects an d multiple tumors, including tumors of the endocrine glands. Peutz-Jeghers syndrome and Cowden disease are just two of these disorders that have recen tly been elucidated at the molecular level, von Hippel-Lindau disease is an other condition that affects the pancreas and adrenal medulla and its gene is also known. The inheritance of the MENs, Carney complex, and related syn dromes is autosomal dominant. Clinical recognition of these syndromes at a young age improves clinical outcome and prognosis of the various tumors and decreases associated morbidity and mortality. This review considers a wide r, more inclusive view of the MEN syndromes, summarizes their clinical feat ures and presents the newest information on their molecular elucidation.