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Hartmut P H Neumann and Wouter de Herder

puzzling Dutch paraganglioma family. He and his collaborators mapped the susceptibility gene locus to 11q23 and linked it to a gene encoding one of the four subunits of succinate dehydrogenase (mitochondrial complex II, SDHD), an enzyme that lies at the all

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Zhengping Zhuang, Chunzhang Yang, Ales Ryska, Yuan Ji, Yingyong Hou, Sky D Graybill, Petra Bullova, Irina A Lubensky, Günter Klöppel, and Karel Pacak

Dear Editor, Somatic hypoxia-inducible factor 2 alpha ( HIF2A ) mutations are responsible for a newly discovered syndrome of multiple paragangliomas (PGL) and duodenal somatostatinomas associated with polycythemia (Pacak–Zhuang syndrome

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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/paraganglioma

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Lucie Evenepoel, Raphaël Helaers, Laurent Vroonen, Selda Aydin, Marc Hamoir, Dominique Maiter, Miikka Vikkula, and Alexandre Persu

Dear Editor, Pheochromocytomas and paragangliomas (PPGL) are rare neuroendocrine tumors arising from the adrenal medulla and extra-adrenal paraganglia, respectively. Forty percent are explained by germline mutations in known susceptibility

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Eamonn R Maher

oxygen-dependent prolyl hydroxylases are inactive, pVHL-dependent degradation of HIFα subunits is compromised and HIF1 and HIF2 are stabilised and activate downstream transcriptional pathways. A notable feature of pheochromocytoma and paraganglioma is the

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Adrian F Daly and Albert Beckers

stromal tumor (GIST; at the time gastric ‘leiomyosarcoma’), paraganglioma, and pulmonary chondroma. While it is traditional to use the term GIST in describing the gastric lesions in Carney triad, they are probably better described as ‘gastric stromal

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Hartmut P Neumann, William F Young Jr, Tobias Krauss, Jean-Pierre Bayley, Francesca Schiavi, Giuseppe Opocher, Carsten C Boedeker, Amit Tirosh, Frederic Castinetti, Juri Ruf, Dmitry Beltsevich, Martin Walz, Harald-Thomas Groeben, Ernst von Dobschuetz, Oliver Gimm, Nelson Wohllk, Marija Pfeifer, Delmar M Lourenço Jr, Mariola Peczkowska, Attila Patocs, Joanne Ngeow, Özer Makay, Nalini S Shah, Arthur Tischler, Helena Leijon, Gianmaria Pennelli, Karina Villar Gómez de las Heras, Thera P Links, Birke Bausch, and Charis Eng

cells or tumor, the middle syllables chromo refer to the former usage of a special chromate-containing stain and pheo refers to the classic brown appearance after exposure to chromate staining ( Bausch et al . 2017 b ). In contrast, paraganglioma

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Arthur Varoquaux, Electron Kebebew, Fréderic Sebag, Katherine Wolf, Jean-François Henry, Karel Pacak, and David Taïeb

third epibranchial placode (nodose placode) ( Baker 2005 ). Vagal paragangliomas Tumor origin and molecular genetics Vagus nerve paraganglia belong to the family of parasympathetic paraganglia. Members act as chemoreceptors and are involved

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James F Powers, Brent Cochran, James D Baleja, Hadley D Sikes, Xue Zhang, Inna Lomakin, Troy Langford, Kassi Taylor Stein, and Arthur S Tischler

Introduction SDH-deficient gastrointestinal stromal tumors (GISTs) are rare but sometimes lethal tumors that can occur in patients with paraganglioma (PGL) syndromes. These tumors do not harbor the KIT or PDGFRA mutations typical of

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Michael Solarski, Fabio Rotondo, William D Foulkes, John R Priest, Luis V Syro, Henriett Butz, Michael D Cusimano, and Kalman Kovacs

treatments ( Terzolo et al . 2014 ). Whether or not DICER1 mutations are present in adrenocortical cancer remains to be seen, but they could present a much-needed therapeutic target for this disease. DICER1 mutations in paragangliomas Similar to