ABSTRACT
El complejo de Carney es un síndrome de neoplasia múltiple de tumores endocrinos y no endocrinos, que incluye la presencia de mixoma, lentiginosis cutánea y enfermedad nodular primaria pigmentada, entre otros criterios para el diagnóstico. En la mayoría de los casos es de transmisión autosómica dominante, por lo que su diagnóstico hace necesario el estudio y seguimiento familiar. Se ha identificado la presencia de mutaciones inactivantes del gen PRKAR1A como causante de la enfermedad. Desde el año 2015 se han agregado otros genes relacionados, como variantes activantes del gen PRKACA y PRKACB. En este trabajo se ahondará en los aspectos genéticos relacionadas con el complejo de Carney (AU)
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 (AU)
Subject(s)
Humans , Male , Female , Carney Complex/diagnosis , Carney Complex/genetics , Myxoma/complications , Transcription, Genetic/genetics , Carney Complex/complications , Paget's Disease, Mammary/epidemiologyABSTRACT
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.
