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Jenny Welander, Peter Söderkvist, and Oliver Gimm

overview of clinical characteristics of PCCs and PGLs with different genetic backgrounds, which is summarized in Table 1 . Table 1 Characteristics of pheochromocytomas and paragangliomas associated with hereditary syndromes and/or susceptibility genes Gene

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G Eisenhofer, T-T Huynh, K Pacak, F M Brouwers, M M Walther, W M Linehan, P J Munson, M Mannelli, D S Goldstein, and A G Elkahloun

increasing recognition of underlying hereditary conditions as causes of pheochromocytoma ( Dluhy 2002 , Neumann et al. 2002 , Bryant et al. 2003 ). Such conditions include multiple endocrine neoplasia type 2 (MEN 2) due to mutations of the ret gene, von

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Patricia L M Dahia, Roderick Clifton-Bligh, Anne-Paule Gimenez-Roqueplo, Mercedes Robledo, and Camilo Jimenez

Munson PJ Mannelli M Goldstein DS Elkahloun AG 2004 Distinct gene expression profiles in norepinephrine- and epinephrine-producing hereditary and sporadic pheochromocytomas: activation of hypoxia-driven angiogenic pathways in von Hippel

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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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Graeme Eisenhofer, Stefan R Bornstein, Frederieke M Brouwers, Nai-Kong V Cheung, Patricia L Dahia, Ronald R de Krijger, Thomas J Giordano, Lloyd A Greene, David S Goldstein, Hendrik Lehnert, William M Manger, John M Maris, Hartmut P H Neumann, Karel Pacak, Barry L Shulkin, David I Smith, Arthur S Tischler, and William F Young Jr

et al. 1999 ). Molecular genetics Advances in molecular genetics continue to underscore the importance of hereditary factors in the development of pheochromocytoma and propensity to malignancy. Although most cases of

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Jenny Welander, Adam Andreasson, Michael Brauckhoff, Martin Bäckdahl, Catharina Larsson, Oliver Gimm, and Peter Söderkvist

hereditary tumor syndromes such as multiple endocrine neoplasia type 2 (MEN2), von Hippel–Lindau disease (VHL), neurofibromatosis type 1 (NF1) or familial pheochromocytoma–paraganglioma syndrome, which are caused by mutations in the genes RET , VHL , NF1

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Arthur S Tischler and Ronald R deKrijger

40% of pheochromocytomas/paragangliomas are hereditary, and at least 19 susceptibility genes have been identified, along with an expanding spectrum of syndromically associated abnormalities ( Favier et al . 2015 , Pacak & Wimalawansa 2015 ). Further

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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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Tobias Else

Introduction The last 15 years have brought significant advances in our understanding of the genetic basis of hereditary syndromes with a predisposition to pheochromocytoma (PC) and paraganglioma (PGL) (PCPGL) development. In the 1990s the genetic

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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