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Carney complex: the first 20 years

Boikos, Sosipatros A; Stratakis, Constantine A

doi: 10.1097/CCO.0b013e32801195eb
Endocrine tumors

Purpose of review The purpose of this review is to comment on the current findings on Carney complex, a dominantly inherited disease and a unique multiple endocrine neoplasia syndrome.

Recent findings Sequencing of the PRKAR1A gene in more than 150 kindreds has revealed a number of pathogenic mutations; in more than 90% of the cases, the sequence change was predicted to lead to a premature stop codon and, thus, mutant mRNAs were subject to nonsense-mediated mRNA decay. In Carney complex syndrome cells carrying these mutations, protein kinase A activity is irregularly stimulated by cAMP. Mutations that did not lead to a premature stop codon have also been described; these were also associated with abnormal protein kinase A activity. Animal models of the disease have been recently developed; they reproduced some of the stigmata of Carney complex syndrome but not all. Genetic testing of patients' family members has been introduced in recent years, leading to early detection and a better overall prognosis.

Summary New treatments have yet to be applied; the elucidation of the molecular pathways regulated by PRKAR1A holds the promise of leading to molecularly designed therapies.

Section on Endocrinology & Genetics (SEGEN), Developmental Endocrinology Branch (DEB), National Institute of Child Health and Human Development (NICHD), National Institutes of Health, Bethesda, Maryland, USA

Correspondence to Dr Constantine A. Stratakis, Section on Endocrinology & Genetics, DEB, NICHD, NIH, Building 10, CRC, Room I-3330, 10 Center Dr, MSC 1103, Bethesda, MD 20892, USA Tel: +1 301 4964686; fax: +1 301 4020574; e-mail:

© 2007 Lippincott Williams & Wilkins, Inc.