Genetics of Carney complex and related familial lentiginoses, and other multiple tumor syndromes

Carney complex is a multiple endocrine neoplasia (MEN) syndrome that affect s the adrenal cortex, the pituitary and thyroid glands, and the gonads. The complex is also associated with skin and mucosa pigmentation abnormalities and myxoid and other neoplasms of mesenchymal and neural crest origin. Thu s, this syndrome also belongs to another group of genetic disorders, the le ntiginoses (or lentigenoses), which include the Peutz-Jeghers, LEOPARD, art erial dissections and lentiginosis, and Laugier-Hunziker syndromes, Cowden disease and Ruvalcaba-Myhre-Smith (Bannayan-Zonana) syndrome and the centro facial, benign patterned and segmental lentiginoses, all of which can be as sociated with a variety of developmental defects. The inheritance of Carney complex, just like that of the other MENs and the lentiginoses, is autosom al dominant. Genetic loci or genes have been identified for Carney complex, Peutz-Jeghers and Ruvalcaba-Myhre-Smith syndromes, but not for other lenti ginoses. Elucidation of the molecular defects responsible for these disorde rs is expected to shed light on aspects of early neural crest differentiati on, the regulation of pigmentation, the development of autonomous endocrine function, and endocrine and nonendocrine tumorigenesis.