Multiple endocrine neoplasia syndromes

Multiple endocrine neoplasia syndromes are hereditary tumor syndromes with distinct patterns of organ involvement.

Mutations in the MEN1 gene typically cause type 1 multiple endocrine neoplasia (MEN1), and mutations in the RET proto-oncogene typically cause type 2 multiple endocrine neoplasia (MEN2). MEN2 is divided into subtypes, MEN2A and MEN2B (also known as MEN2 and MEN3). MEN4 is a very rare disease, caused by mutations in the CDKN1B gene.

Prophylactic thyroidectomy in childhood is indicated in MEN2.

Medical management of hormonal hypersecretion is important for symptom control.

Most tumors require surgical evaluation, although surgical cure is not always possible.

Genetic carriers require lifelong monitoring, even after successful operations.

Morbidity and mortality result from both hormonal hypersecretion and metastases.

Multiple endocrine neoplasia (MEN) syndromes are hereditary tumor syndromes of variable neoplastic patterns and characterized by the development of multiple endocrine tumors. Tumors can include parathyroid adenomas, pituitary adenomas (which may be nonsecretory or affect the profiles of adrenocorticotropic hormone, growth hormone, thyroid-stimulating hormone, and/or prolactin), enteropancreatic and other neuroendocrine tumors (which may affect the profiles of gastrin, insulin, glucagon, and/or vasoactive intestinal protein), facial lipomas, facial angiofibromas, medullary thyroid cancers, and pheochromocytomas. They may be associated with propensity to tumor formation in other organs such as the kidney and breast.