Human tumors associated with Carney complex and germline PRKAR1A mutations: a protein kinase A disease!

FEBS Letters

Stratakis, Constantine A.¹  Stergiopoulos, Sotirios G.¹ 

[1] Section on Endocrinology and Genetics, Developmental Endocrinology Branch (DEB), National Institute of Child Health and Human Development (NICHD), NIH, Building 10, Room 10N262, 10 Center Dr. MSC1862, Bethesda, MD 20892, USA

关键词: Protein kinase A;    Regulatory subunit;    Carney complex;    Chromosome 17;    Deletion;    Tumor suppressor gene;    CNC;    Carney complex;    PPNAD;    primary pigmented nodular adrenocortical disease;    LCCSCT;    large cell calcifying Sertoli cell tumors;    PMS;    psamommatous melanotic schwannoma;   

DOI  :  10.1016/S0014-5793(03)00452-6

学科分类：生物化学/生物物理

来源: John Wiley & Sons Ltd.

【 摘 要 】

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-α regulatory subunit (RIα) 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.

【 授权许可】

Unknown