Solid tumors associated with multiple endocrine neoplasias.
We present an update on molecular and clinical genetics of solid tumors associated with the various multiple endocrine neoplasias (MEN) syndromes. MEN type 1 (MEN1) describes the association of pituitary, parathyroid, and pancreatic islet cell tumors with a variety of many other lesions. MEN type 2 (MEN2) conditions represent at least four different syndromes that associate pheochromocytoma with medullary thyroid carcinoma, hyperparathyroidism, and a number of other manifestations. Other pheochromocytoma-associated syndromes include von Hippel-Lindau disease; neurofibromatosis 1; the recently defined paraganglioma syndromes type 1, 3, and 4; Carney-Stratakis syndrome; and the Carney triad. Carney-Stratakis syndrome is characterized by the association of paragangliomas and familial gastrointestinal stromal tumors. In the Carney triad, patients can manifest gastrointestinal stromal tumors, lung chondroma, paraganglioma, adrenal adenoma and pheochromocytoma, esophageal leiomyoma, and other conditions. The Carney complex is yet another form of MEN that is characterized by skin tumors and pigmented lesions, myxomas, schwannomas, and various endocrine neoplasias.
Section on Endocrinology and Genetics, Program on Developmental Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Building 10, CRC, Room I-3330, 10 Center Dr., MSC 1103, Bethesda, MD 20892, USA.
Madson Q
MQ
Almeida
Constantine A
CA
Stratakis
D000310:Adrenal Gland Neoplasms / Q000235:genetics; D018095:Germ-Line Mutation; D006801:Humans; D009377:Multiple Endocrine Neoplasia / Q000150:complications* / Q000235:genetics; D018761:Multiple Endocrine Neoplasia Type 1 / Q000150:complications; D018813:Multiple Endocrine Neoplasia Type 2a / Q000150:complications; D009369:Neoplasms / Q000235:genetics*; D010673:Pheochromocytoma / Q000235:genetics; D013964:Thyroid Neoplasms / Q000209:etiology