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Eva Szarek, Evan R Ball, Alessio Imperiale, Maria Tsokos, Fabio R Faucz, Alessio Giubellino, François-Marie Moussallieh, Izzie-Jacques Namer, Mones S Abu-Asab, Karel Pacak, David Taïeb, J Aidan Carney, and Constantine A Stratakis

Introduction Carney triad (CTr) is a syndrome that describes the association of paragangliomas (PGLs) with gastrointestinal (GI) stromal tumors (GISTs) and pulmonary chondromas; other lesions, including pheochromocytomas, esophageal leiomyomas, and

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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

Introduction Carney triad (CT) is a rare condition with synchronous or metachronous occurrence in a patient of three tumor entities, namely gastric gastrointestinal stromal tumor (GIST), paraganglioma (PGL), and pulmonary chondroma ( Carney et al

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Adrian F Daly and Albert Beckers

Introduction Carney triad was originally recognized following the painstaking clinicopathological work of Dr J Aidan Carney at the Mayo Clinic between 1975 and 1977 ( Carney et al . 1977 ). The initial triad consisted of gastric gastrointestinal

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Jenny Welander, Peter Söderkvist, and Oliver Gimm

other syndromes, including Carney triad, Carney–Stratakis syndrome, and, very rarely, MEN1. During the last decade, mutations in the genes encoding different subunits of the succinate dehydrogenase (SDH) complex have been linked to familial PCC

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Priya Gopie, Lin Mei, Anthony C Faber, Steven R Grossman, Steven C Smith, and Sosipatros A Boikos

patients, GIST is part of one of several familial syndromes. These syndromes include Carney–Stratakis syndrome (CSS), Carney triad, neurofibromatosis type 1 and primary familial GIST syndrome ( Carney & Stratakis 2002 , Mussi et al . 2008 , Agarwal

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Constantine A Stratakis

associated with adrenal hyperplasias and related adrenocortical tumors . Molecular and Cellular Endocrinology 300 152 – 157 . ( doi:10.1016/j.mce.2008.11.010 ). Stratakis CA Carney JA 2009 The triad of paragangliomas, gastric stromal tumours and

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Catherine Goudie, Fady Hannah-Shmouni, Mahmure Kavak, Constantine A Stratakis, and William D Foulkes

.13 1q23.31 1q23.1 PPGL/ACT/PBMAH PPGL/ACT/PBMAH PPGL/ACT/PBMAH PPGL/ACT/PBMAH GIST 606864 Carney triad SDHC promoter methyl a 1q23.3 PPGL ACA PBMAH GIST, pulmonary chondroma, oesophageal leiomyoma, sarcoma 604287 DICER1

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Sara Ekeblad, Bengt Nilsson, Margareta Halin Lejonklou, Térèse Johansson, Peter Stålberg, Ola Nilsson, Håkan Ahlman, and Britt Skogseid

triad ( Carney et al. 1977 , Bumming et al. 2006 ). Clinically, GISTs range from small, indolent, surgically curable tumors to very aggressive tumor disease. Histopathologically, they are composed of spindled or epithelioid cells, or are of

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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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Samantha Peiling Yang and Joanne Ngeow

), familial adenomatous polyposis ( Cetta et al. 1998 , 2000 a ), Gardner syndrome ( Bell & Mazzaferri 1993 ), Carney complex type 1 ( Stratakis et al. 1996 , 1997 , 2001 ), Werner syndrome ( Yu et al. 1996 , Ishikawa et al . 1999 ) and DICER1