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

of Cancer 89 460 –464. Bumming P , Nilsson B, Sorensen J, Nilsson O & Ahlman H 2006 Use of 2-tracer PET to diagnose gastrointestinal stromal tumour and pheochromocytoma in patients with Carney triad 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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Arthur Varoquaux, Yann le Fur, Alessio Imperiale, Antony Reyre, Marion Montava, Nicolas Fakhry, Izzie-Jacques Namer, Guy Moulin, Karel Pacak, Maxime Guye and David Taïeb

depicting SDH deficiency without an SDHx mutation such as an SDH promoter methylation that may occur in some cases like Carney triad ( Haller et al . 2014 , Imperiale et al . 2015 a ). More recently, a significantly increased succinate:fumarate ratio

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Constantine A Stratakis

pulmonary chondromas (Carney triad), and the dyad of paragangliomas and gastric stromal sarcomas (Carney-Stratakis syndrome): molecular genetics and clinical implications . Journal of Internal Medicine 266 43 – 52 . ( doi:10.1111/j.1365

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Paraskevi Xekouki and Constantine A Stratakis

B Stratakis CA International Carney Triad and Carney–Stratakis Syndrome Consortium 2007 Familial gastrointestinal stromal tumors and germ-line mutations . New England Journal of Medicine 357 1054 – 1056 . ( doi:10.1056/NEJMc071191