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Département de Médecine Génomique des Tumeurs et des Cancers, Assistance Publique-Hôpitaux de Paris, Hôpital Européen Georges Pompidou, Paris, France
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Biomedical Research Networking Centre on Rare Diseases (CIBERER), Institute of Health Carlos III, Madrid, Spain
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Mays Cancer Center at UTHSCSA, San Antonio, Texas, USA
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Hypertension clearly stated that genetic studies should be considered for any patient diagnosed with PGL because these tumors carry the highest known heritability rate of any human neoplasm and because genetic alterations currently explain almost 80% of all
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speakers included Dr Robledo (’Pheochromocytoma and paraganglioma: dialogue between genetic and epigenetics’), Dr Eisenhofer (’Catecholamine system biology and biochemical diagnosis of pheochromocytoma and paraganglioma’) and Dr Taieb (’Nuclear medicine in
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Department of Endocrinology, Royal North Shore Hospital, St Leonards, Australia
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products and hence aids in the classification process. Genetic alterations have amongst others also metabolic consequences in a cell ( Fig. 2 ). Especially mutations affecting SDH, FH, or isocitrate dehydrogenase (IDH) lead to strong increases in
Regional Centre for Endocrinology and Diabetes, Royal Victoria Hospital, Belfast Health & Social Care Trust, Belfast, UK
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( Xekouki et al. 2012 ) and has since been known as the 3P (pituitary, paraganglioma, phaeochromocytoma) association (3PA) syndrome ( Xekouki et al. 2015 ). In some cases, no genetic alteration can be identified ( Denes et al. 2015 ). In addition to
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Medizinische Klinik und Poliklinik IV, Klinikum der Universität München, Munich, Germany
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that metastatic PPGL lesions often present with a different behavior as compared to its primary tumor. Such differences in biology may indeed prove to be clinically relevant and could be translated into new therapeutic possibilities through genetic