This review highlights the role of PRKAR1A mutations and the cAMP/PKA signaling pathway in the pathogenesis of Carney complex and related human tumors.
PRKAR1A mutations implicate cAMP/PKA in Carney complex tumorigenesis; leaves open targeted therapy validation before clinical adoption.
Carney complex (CNC) is a multiple neoplasia syndrome that consists of endocrine (thyroid, pituitary, adrenocortical and gonadal), non-endocrine (myxomas, nevi and other cutaneous pigmented lesions), and neural (schwannomas) tumors. Primary pigmented nodular adrenocortical disease (PPNAD) is the most common endocrine manifestation of CNC and the only inherited form of Cushing syndrome known to date. In the search of genes responsible for CNC, two chromosomal loci were identified; one (17q22-24) harbored the gene encoding the type I-alpha regulatory subunit (RIalpha) of protein kinase A (PKA), PRKAR1A, a critical component of the cAMP signaling pathway. Here we review CNC and the implications of this discovery for the cAMP and/or PKA's involvement in human tumorigenesis.
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Stergiopoulos et al. (2003) studied this question.
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