[Multiple endocrine neoplasias. Recent advances in clinical and genetic diagnosis]

Multiple endocrine neoplasias (MEN) are autosomal dominant inherited syndromes characterized by the association of different glandular lesions in several members of the same kindred. The main clinical features of MEN 1 include primary hyperparathyroidism, pancreatic islet cell tumors and pituitary adenomas; less common features are adrenal adenomas, thymic and bronchial carcinoid tumors, lipomas and various cutaneous lesions. The MEN 2 syndromes (MEN 2A, MEN 2B and familial medullary thyroid carcinomas) are characterized by high penetrance of medullary thyroid carcinoma and differ in their variable expression of pheochromocytoma, hyperparathyroidism and other clinical features.

MEN 1 tumor suppressor gene encodes a nuclear protein, menin, which interacts with different regulation transcription factors. The MEN 2 syndromes are caused by germ-line mutations of the RET proto-oncogene, which encodes a transmembrane tyrosine kinase. Genetic testing for mutations in these 2 genes allows identification of individuals predisposed to the disease, early diagnosis, and clinical and therapeutic management.

Fundamental approach will allow a best comprehension of physiopathogenic mechanisms of these disorders and the improvement of therapeutic management.