title: Carney complex.
abstract: Carney complex is a rare, dominantly inherited multiple endocrine neoplasia syndrome, affecting endocrine glands as the adrenal cortex (causing Cushing's syndrome), the pituitary and the thyroid. It is associated with many other nonendocrine tumors, including cardiac myxomas, testicular tumors, melanotic schwannoma, breast myxomatosis, and abnormal pigmentation (lentiginosis) or myxomas of the skin. The gene located on the CNC1 locus was identified 12 years ago as the regulatory subunit 1A (R1A) of the protein kinase A (PRKAR1A) located at 17q22-24. Inactivating heterozygous germline mutations of PRKAR1A are observed in about two thirds of Carney complex patients with some genotype-phenotype correlation useful for follow-up and prognosis. More rarely, mutations of phosphodiesterase genes have been reported in patients presenting mainly with Cushing's syndrome. In vitro and in vivo studies help to understand how R1A inactivation leads to tumorigenesis. PRKAR1A appears to be a relatively weak tumorigenic signal which can cooperate with other signaling pathways and tumor suppressors.
authors: Inserm U1016, CNRS UMR 8104, Institut Cochin, Paris, France.
authors: Stéphanie
authors: S
authors: Espiard
authors: Jérôme
authors: J
authors: Bertherat
mesh_terms: D000236:Adenoma / Q000235:genetics; D000303:Adrenal Cortex Diseases / Q000235:genetics; D000818:Animals; D056733:Carney Complex / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D003480:Cushing Syndrome / Q000235:genetics; D000242:Cyclic AMP / Q000378:metabolism; D054756:Cyclic AMP-Dependent Protein Kinase RIalpha Subunit / Q000235:genetics*; D004195:Disease Models, Animal; D005260:Female; D056726:Genetic Association Studies; D018095:Germ-Line Mutation; D006338:Heart Neoplasms / Q000235:genetics; D006801:Humans; D008297:Male; D009377:Multiple Endocrine Neoplasia / Q000235:genetics*; D009232:Myxoma / Q000235:genetics; D009442:Neurilemmoma / Q000235:genetics; D010911:Pituitary Neoplasms / Q000235:genetics
chemical_list: D054756:Cyclic AMP-Dependent Protein Kinase RIalpha Subunit; D000242:Cyclic AMP