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Jenny Welander, Peter Söderkvist, and Oliver Gimm

Leton R Honrado E Ramos-Medina R Caronia D Pita G 2011 Exome sequencing identifies MAX mutations as a cause of hereditary pheochromocytoma . Nature Genetics 43 663 – 667 . doi:10.1038/ng.861 . Crossey PA Foster K Richards FM

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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

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Jenny Welander, Peter Söderkvist, and Oliver Gimm

.1–5.7%), of patients with neurofibromatosis type 1 develop pheochromocytomas ( Walther et al . 1999 ). Hereditary pheochromocytomas can also be observed in von Hippel–Lindau disease (10–26%) and multiple endocrine neoplasia type 2 (about 50%), as well as in

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Arthur S Tischler and Ronald R deKrijger

, some of the new hereditary pheochromocytomas and paragangliomas do not have syndromic manifestations, while occult germline mutations of classic susceptibility genes are identified in some patients in whom the tumors are apparently sporadic ( Neumann

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Hartmut P H Neumann

endocrine neoplasia type 2. We were happy and proud that again the New England Journal of Medicine published this work ( Neumann et al . 2007 ). The fight for adrenal-sparing and endoscopic surgery in hereditary pheochromocytoma Present in the operating

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Adrian F Daly, Emilie Castermans, Lindsey Oudijk, Mirtha A Guitelman, Pablo Beckers, Iulia Potorac, Sebastian J C M M Neggers, Nathalie Sacre, Aart-Jan van der Lely, Vincent Bours, Wouter W de Herder, and Albert Beckers

gene are associated with a risk of sporadic and hereditary pheochromocytoma and are also implicated in kidney tumors ( Comino-Méndez et al. 2011 , Burnichon et al. 2012 ). Recently a large deletion including the MAX promoter and exons 1 and 2 was

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Alberto Cascón, Lucía Inglada-Pérez, Iñaki Comino-Méndez, Aguirre A de Cubas, Rocío Letón, Jaume Mora, Mónica Marazuela, Juan Carlos Galofré, Miguel Quesada-Charneco, and Mercedes Robledo

Landa I Leandro-Garcia LJ Leton R Honrado E Ramos-Medina R Caronia D Pita G 2011 Exome sequencing identifies MAX mutations as a cause of hereditary pheochromocytoma . Nature Genetics 43 663 – 667 . ( doi:10.1038/ng.861 ). Evans

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Rodrigo A Toledo, Yuejuan Qin, Subramanya Srikantan, Nicole Paes Morales, Qun Li, Yilun Deng, Sang-Woo Kim, Maria Adelaide A Pereira, Sergio P A Toledo, Xiaoping Su, Ricardo C T Aguiar, and Patricia L M Dahia

pheochromocytomas have been limited to mutations of some of these susceptibility genes ( Burnichon et al . 2011 ). A majority of hereditary pheochromocytomas and paragangliomas are related to the hypoxia pathway through mutations of the VHL gene or those encoding

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Birke Bausch, Ulrich Wellner, Dirk Bausch, Francesca Schiavi, Marta Barontini, Gabriela Sanso, Martin K Walz, Mariola Peczkowska, Georges Weryha, Patrizia Dall'Igna, Giovanni Cecchetto, Gianni Bisogno, Lars C Moeller, Detlef Bockenhauer, Attila Patocs, Karoly Rácz, Dmitry Zabolotnyi, Svetlana Yaremchuk, Iveta Dzivite-Krisane, Frederic Castinetti, David Taieb, Angelica Malinoc, Ernst von Dobschuetz, Jochen Roessler, Kurt W Schmid, Giuseppe Opocher, Charis Eng, and Hartmut P H Neumann

), the paraganglioma syndrome types 1–4 (PGL1–4), and the familial pheochromocytoma syndromes. Patients with hereditary pheochromocytoma have a lifelong risk of second paraganglial tumors and relapse and frequently have life-threatening, syndrome

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Hartmut P H Neumann and Wouter de Herder

. American Journal of Surgical Pathology 35 1578 – 1585 . ( doi:10.1097/PAS.0b013e318227e7f4 ). Gill AJ Pachter NS Clarkson A Tucker KM Winship IM Benn DE Robinson BG Clifton-Bligh RJ 2011b Renal tumors and hereditary pheochromocytoma