Carney complex review: Genetic features

• Published in: Endocrinología, diabetes y nutrición. Vol. 65; no. 1; pp. 52 - 59
• Main Authors: Bosco Schamun, María Belén, Correa, Ricardo, Graffigna, Patricia, de Miguel, Valeria, Fainstein Day, Patricia
• Format: Journal Article
• Language: English
• Published: Elsevier España, S.L.U 01-01-2018
• Subjects: Carney complex; Complejo de Carney; Endocrinology and Metabolism; Hiperplasia adrenal nodular primaria pigmentada; Lentigines; Lentiginosis; Primary pigmented nodular adrenocortical disease; Complejo de Carney; Hiperplasia adrenal nodular primaria pigmentada; Lentigines; Primary pigmented nodular adrenocortical disease; Lentiginosis; Carney complex
• ISSN: 2530-0180; 2530-0180
• DOI: 10.1016/j.endien.2017.09.004

Abstract Carney complex is a multiple neoplasia syndrome having endocrine and non-endocrine manifestations. Diagnostic criteria include myxoma, lentigines, and primary pigmented nodular adrenocortical disease, amongst other signs/symptoms. In most cases it is an autosomal dominant disease, and diagnosis therefore requires study and follow-up of the family members. Inactivating mutations of the PRKAR1A gene were identified as the main cause of the disease, although since 2015 other disease-related genes, including PRKACA and PRKACB activating mutations, have also been related with Carney complex. This review will address the genetic aspects related to Carney complex.