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W Patricia Bandettini, Alexander S Karageorgiadis, Ninet Sinaii, Douglas R Rosing, Vandana Sachdev, Marie Helene Schernthaner-Reiter, Evgenia Gourgari, Georgios Z Papadakis, Meg F Keil, Charalampos Lyssikatos, J Aidan Carney, Andrew E Arai, Maya Lodish, and Constantine A Stratakis

Introduction Carney complex (CNC) is a multiple neoplasia syndrome that affects several organs, including the endocrine glands, heart and skin, and is caused mostly by mutations in the PRKAR1A gene, which codes for the regulatory subunit type

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Amit Tirosh, Ahmed Hamimi, Fabio Faucz, Genya Aharon-Hananel, Phaedon D Zavras, Belen Bonella, Adi Auerbach, David Gillis, Charalampos Lyssikatos, Elena Belyavskaya, Constantine A Stratakis, and Ahmed M Gharib

Introduction Carney complex (CNC) is a rare multiple neoplasia syndrome, that is either inherited as an autosomal dominant trait, or occurs sporadically as a result of a de novo defect ( Correa et al. 2015 ). CNC is mostly caused by a

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Daphne R Pringle, Zhirong Yin, Audrey A Lee, Parmeet K Manchanda, Lianbo Yu, Alfred F Parlow, David Jarjoura, Krista M D La Perle, and Lawrence S Kirschner

, Carney complex (CNC) and Cowden syndrome (CS). CNC (OMIM #160980) is characterized by spotty skin pigmentation, myxomas, endocrine tumors, and schwannomas ( Stratakis et al . 2001 ). In a recent large series, benign thyroid adenomas were observed in 25

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I Bossis, A Voutetakis, T Bei, F Sandrini, K J Griffin, and C A Stratakis

The type 1 alpha regulatory subunit (R1alpha) of cAMP-dependent protein kinase A (PKA) (PRKAR1A) is an important regulator of the serine-threonine kinase activity catalyzed by the PKA holoenzyme. Carney complex (CNC) describes the association 'of spotty skin pigmentation, myxomas, and endocrine overactivity'; CNC is in essence the latest form of multiple endocrine neoplasia to be described and affects the pituitary, thyroid, adrenal and gonadal glands. Primary pigmented nodular adrenocortical disease (PPNAD), a micronodular form of bilateral adrenal hyperplasia that causes a unique, inherited form of Cushing syndrome, is also the most common endocrine manifestation of CNC. CNC and PPNAD are genetically heterogeneous but one of the responsible genes is PRKAR1A, at least for those families that map to 17q22-24 (the chromosomal region that harbors PRKAR1A). CNC and/or PPNAD are the first human diseases to be caused by mutations in one of the subunits of the PKA holoenzyme. Despite the extensive literature on R1alpha and PKA, little is known about their potential involvement in cell cycle regulation, growth and/or proliferation. The presence of inactivating germline mutations and the loss of its wild-type allele in CNC lesions indicated that PRKAR1A could function as a tumor-suppressor gene in these tissues. However, there are conflicting data in the literature about PRKAR1A's role in human neoplasms, cancer cell lines and animal models. In this report, we review briefly the genetics of CNC and focus on the involvement of PRKAR1A in human tumorigenesis in an effort to reconcile the often diametrically opposite reports on R1alpha.

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Sílvia F Sousa, Ricardo S Gomez, Marina G Diniz, Vanessa F Bernardes, Flávia F C Soares, João Artur R Brito, Sophie Liu, Hélder Antônio R Pontes, Constantine A Stratakis, and Carolina C Gomes

increased PKA/cAMP signaling and activation of the processes of proliferation and differentiation ( Robinson-White et al . 2006 ). This gene is mutated in sporadic ( Maleszewski et al . 2014 ) and in syndromic myxomas associated with Carney complex

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Florian Haller, Evgeny A Moskalev, Fabio R Faucz, Sarah Barthelmeß, Stefan Wiemann, Matthias Bieg, Guillaume Assie, Jerome Bertherat, Inga-Marie Schaefer, Claudia Otto, Eleanor Rattenberry, Eamonn R Maher, Philipp Ströbel, Martin Werner, J Aidan Carney, Arndt Hartmann, Constantine A Stratakis, and Abbas Agaimy

and syndromal occurrence of PGLs and GISTs in affected patients ( Carney & Stratakis 2002 ). Similar to the familial PGL syndromes, germline mutations of the other subunits of the SDH complex can also cause CSS. Interestingly, SDHC mutations were

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Fidéline Bonnet-Serrano and Jérôme Bertherat

(Beckwith–Wiedemann syndrome) in sporadic ACC ( Gicquel et al. 1997 ) and protein kinase A regulatory subunit 1-alpha (PRKAR1A) (Carney complex) in sporadic cortisol-secreting ACA ( Bertherat et al. 2003 ). However, this candidate gene approach is

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Sisi Liu, Emmanouil Saloustros, Annabel Berthon, Matthew F Starost, Isabelle Sahut-Barnola, Paraskevi Salpea, Eva Szarek, Fabio R Faucz, Antoine Martinez, and Constantine A Stratakis

context of Carney complex (CNC), osteochondromyxoma ( Carney et al . 2001 ). In both the Prkar1a heterozygous mouse ( Kirschner et al . 2005 ) and in the double heterozygous mice deficient in both Prkar1a and Prkaca ( Prkar1a + /− Prkaca

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Aristides Lytras and George Tolis

; MEN2B: #162 300; MEN4: #610 755), Carney complex (CNC; OMIM #160 980), von Recklinghausen disease (neurofibromatosis type 1, NF1; OMIM +162 200), VHLD, paraganglioma/pheochromocytoma syndromes (PGL1, 2, 3, 4; OMIM PGL1: #168 000; PGL2: %601 650; PGL3

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Elizabeth Grubbs, Daniel Halperin, Steven G Waguespack, and Robert F Gagel

Overview The multiple endocrine neoplasia syndromes are a varied group of disorders that include multiple endocrine neoplasia types 1 and 2 (MEN 1, MEN 2), von Hippel-Lindau (VHL) disease , Carney complex (CC), hereditary pheochromocytoma