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 lentig (e) under bar noses), which include the Peutz-Jeghers, LEOPARD, arterial dissections and lentiginosis, and Laugier-Hunziker syndr omes, Cowden disease and Ruvalcaba-Myhre-Smith (Bannayan-Zonana) syndrome a nd the centrofacial, benign patterned and segmental lentiginoses, all of wh ich can be associated with a variety of developmental defects. The inherita nce of Carney complex, just like that of the other MENs and the lentiginose s, is autosomal dominant. Genetic loci or genes have been identified for Ca rney complex, Peutz-Jeghers and Ruvalcaba-Myhre-Smith syndromes, but not fo r other lentiginoses. Elucidation of the molecular defects responsible for these disorders is expected to shed light on aspects of early neural crest differentiation, the regulation of pigmentation, the development of autonom ous endocrine function, and endocrine and nonendocrine tumorigenesis.