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WenQi Yuan, WeiQinq Wang, Bin Cui, TingWei Su, Yan Ge, Lei Jiang, WeiWei Zhou, and Guang Ning

found in the adrenal medulla, whereas those found along the para-vertebral and para-aortic axis, but outside the adrenals, are called paragangliomas. The pheochromocytomas can be a part of some of the hereditary syndromes, including MEN2, VHL, NF1, and

Open access

Diana E Benn, Bruce G Robinson, and Roderick J Clifton-Bligh

pheochromocytomas or paragangliomas . Journal of Clinical Endocrinology and Metabolism 92 3822 – 3828 . ( doi:10.1210/jc.2007-0709 ). Astrom K Cohen JE Willett-Brozick JE Aston CE Baysal BE 2003 Altitude is a phenotypic modifier in hereditary

Open access

Nimrod B Kiss, Andreas Muth, Adam Andreasson, C Christofer Juhlin, Janos Geli, Martin Bäckdahl, Anders Höög, Bo Wängberg, Ola Nilsson, Håkan Ahlman, and Catharina Larsson

mutation carriers among pheochromocytoma and paraganglioma patients is of clinical importance but in principle requires extensive mutation screenings in a large group of patients – as several genes are involved, and hereditary predisposition is often

Open access

Martin Ullrich, Josephine Liers, Mirko Peitzsch, Anja Feldmann, Ralf Bergmann, Ulrich Sommer, Susan Richter, Stefan R Bornstein, Michael Bachmann, Graeme Eisenhofer, Christian G Ziegler, and Jens Pietzsch

Introduction Adrenal pheochromocytomas and extra adrenal paragangliomas (PPGLs) are rare catecholamine-producing tumors of chromaffin cell origin ( Lenders et al. 2005 , Harari & Inabnet 2011 , Jemal et al. 2011 ). In contrast to most

Open access

J Crona, F Beuschlein, K Pacak, and B Skogseid

12022-016-9452-5 ) 10.1007/s12022-016-9452-5 27709415 Rednam SP Erez A Druker H Janeway KA Kamihara J Kohlmann WK Nathanson KL States LJ Tomlinson GE Villani A , et al . 2017 Von Hippel-Lindau and Hereditary Pheochromocytoma/Paraganglioma Syndromes

Open access

James F Powers, Brent Cochran, James D Baleja, Hadley D Sikes, Andrew D Pattison, Xue Zhang, Inna Lomakin, Annette Shepard-Barry, Karel Pacak, Sun Jin Moon, Troy F Langford, Kassi Taylor Stein, Richard W Tothill, Yingbin Ouyang, and Arthur S Tischler

adrenal medulla. Tumors called paragangliomas can arise anywhere in the distribution of normal paraganglia. By definition an intra-adrenal paraganglioma (PG) is called a pheochromocytoma (PC) ( Lloyd et al. 2017 ). At least 40% of pheochromocytomas and

Open access

Ying Ni, Spencer Seballos, Shireen Ganapathi, Danielle Gurin, Benjamin Fletcher, Joanne Ngeow, Rebecca Nagy, Richard T Kloos, Matthew D Ringel, Thomas LaFramboise, and Charis Eng

neurodegenerative disease ( Bourgeron et al . 1995 , Parfait et al . 2000 ). In contrast, germline heterozygous mutations in the genes encoding the SDH subunits result in hereditary pheochromocytoma–paraganglioma syndrome ( Baysal et al . 2000 , Neumann et al

Open access

Trisha Dwight, Edward Kim, Karine Bastard, Diana E Benn, Graeme Eisenhofer, Susan Richter, Massimo Mannelli, Elena Rapizzi, Aleksander Prejbisz, Mariola Pęczkowska, Karel Pacak, and Roderick Clifton-Bligh

frequently accompanied by illegitimate activation of hypoxia responses at normal oxygen levels (‘pseudohypoxia’, or the Warburg effect) ( Warburg 1956 , Ruan et al. 2009 ). Pheochromocytomas and paragangliomas (PPGLs) are tumors of the adrenal medulla

Open access

Helene Myrtue Nielsen, Alexandre How-Kit, Carole Guerin, Frederic Castinetti, Hans Kristian Moen Vollan, Catherine De Micco, Antoine Daunay, David Taieb, Peter Van Loo, Celine Besse, Vessela N Kristensen, Lise Lotte Hansen, Anne Barlier, Frederic Sebag, and Jörg Tost

with a PASS score of four or higher were classified as malignant. All pheochromocytomas lacked a positive familial history indicating hereditary disease and had no mutations in the SDHB , SDHD and VHL genes as assessed by Sanger sequencing. Written

Open access

William Beimers, Megan Braun, Kaleb Schwinefus, Keenan Pearson, Brandon Wilbanks, and Louis James Maher

known as pheochromocytoma ( Lenders et al. 2005 ). PGL can be characterized by hypertension due to the secretion of catecholamines, though most cases are asymptomatic. PGL is typically a slow-growing tumor and many cases are benign and are curable by