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Anne-Paule Gimenez-Roqueplo Université Paris Cité, PARCC, INSERM, Paris, France
Département de Médecine Génomique des Tumeurs et des Cancers, Assistance Publique-Hôpitaux de Paris, Hôpital Européen Georges Pompidou, Paris, France

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Mercedes Robledo Hereditary Endocrine Cancer Group, Human Cancer Genetics Programme, Spanish National Cancer Research Centre (CNIO), Madrid, Spain
Biomedical Research Networking Centre on Rare Diseases (CIBERER), Institute of Health Carlos III, Madrid, Spain

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Patricia L M Dahia Division of Hematology and Medical Oncology, Department Medicine, University of Texas Health Science Center at San Antonio (UTHSCSA), San Antonio, Texas, USA
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

Article Type:
Review Article
Collections:
Advances and Future Directions in Pheochromocytoma and Paraganglioma
DOI:
https://doi.org/10.1530/ERC-22-0373
Volume/Issue:
Volume 30: Issue 4
Open access
Karel Pacak Section on Medical Neuroendocrinology, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland, USA

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Roderick Clifton-Bligh Department of Endocrinology Royal North Shore Hospital, University of Sydney, Australia

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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

Article Type:
Editorial
Collections:
Advances and Future Directions in Pheochromocytoma and Paraganglioma
DOI:
https://doi.org/10.1530/ERC-23-0030
Volume/Issue:
Volume 30: Issue 5
Free access
Susan Richter Institute for Clinical Chemistry and Laboratory Medicine, University Hospital Carl Gustav Carus, Medical Faculty Carl Gustav Carus, Technische Universität Dresden, Fetscherstrasse, Dresden, Germany

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Timothy J Garrett Department of Pathology, Immunology, and Laboratory Medicine, College of Medicine, University of Florida, Gainesville, Florida, USA

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Nicole Bechmann Institute for Clinical Chemistry and Laboratory Medicine, University Hospital Carl Gustav Carus, Medical Faculty Carl Gustav Carus, Technische Universität Dresden, Fetscherstrasse, Dresden, Germany

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Roderick J Clifton-Bligh Cancer Genetics Laboratory, Kolling Institute, Faculty of Medicine and Health, The University of Sydney, St Leonards, Australia
Department of Endocrinology, Royal North Shore Hospital, St Leonards, Australia

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Hans K Ghayee Department of Internal Medicine, Division of Endocrinology, University of Florida College of Medicine and Malcom Randall VA Medical Center, Gainesville, Florida, USA

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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

Article Type:
Review Article
Collections:
Advances and Future Directions in Pheochromocytoma and Paraganglioma
DOI:
https://doi.org/10.1530/ERC-22-0376
Volume/Issue:
Volume 30: Issue 6
Open access
Paul Benjamin Loughrey Patrick G Johnston Centre for Cancer Research, Queen’s University, Belfast, UK
Regional Centre for Endocrinology and Diabetes, Royal Victoria Hospital, Belfast Health & Social Care Trust, Belfast, UK

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Federico Roncaroli Geoffrey Jefferson Brain Research Centre, Division of Neuroscience and Experimental Psychology, School of Medicine, Manchester University, Manchester, UK

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Estelle Healy Department of Cellular Pathology, Royal Victoria Hospital, Belfast Health & Social Care Trust, Belfast, UK

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Philip Weir Department of Neurosurgery, Royal Victoria Hospital, Belfast Health & Social Care Trust, Belfast, UK

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Madhu Basetti Cancer Research UK Cambridge Institute, Li Ka Shing Centre, University of Cambridge, Cambridge, UK

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Ruth T Casey Department of Endocrinology, Cambridge University Hospital NHS Foundation Trust, Cambridge, UK

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Steven J Hunter Regional Centre for Endocrinology and Diabetes, Royal Victoria Hospital, Belfast Health & Social Care Trust, Belfast, UK

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Márta Korbonits Centre for Endocrinology, William Harvey Research Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London, 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

Article Type:
Review Article
Collections:
Advances and Future Directions in Pheochromocytoma and Paraganglioma
DOI:
https://doi.org/10.1530/ERC-22-0157
Volume/Issue:
Volume 29: Issue 10
Open access
Liang Zhang Department of Medical Sciences, Uppsala University, Uppsala, Sweden

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Tobias Åkerström Department of Surgical Sciences, Uppsala University, Uppsala, Sweden

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Kazhan Mollazadegan Department of Medical Sciences, Uppsala University, Uppsala, Sweden

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Felix Beuschlein Klinik für Endokrinologie, Diabetologie und Klinische Ernährung, Universitätsspital Zürich (USZ) and Univeristät Zürich (UZH), Zurich, Switzerland
Medizinische Klinik und Poliklinik IV, Klinikum der Universität München, Munich, Germany

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Karel Pacak Section on Medical Neuroendocrinology, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland, USA

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Britt Skogseid Department of Medical Sciences, Uppsala University, Uppsala, Sweden

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Joakim Crona Department of Medical Sciences, Uppsala University, Uppsala, Sweden

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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

Article Type:
Research Article
Collections:
Advances and Future Directions in Pheochromocytoma and Paraganglioma
DOI:
https://doi.org/10.1530/ERC-22-0354
Volume/Issue:
Volume 30: Issue 7
Open access
Francesca Amore Department Experimental and Clinical Biomedical Sciences, University of Florence, Florence, Italy

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Rachele Garella Department Experimental and Clinical Medicine, University of Florence, Florence, Italy

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Alice Santi Department Experimental and Clinical Biomedical Sciences, University of Florence, Florence, Italy

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Daniele Guasti Department of Experimental and Clinical Medicine, Imaging Platform, University of Florence, Italy

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Serena Martinelli Department Experimental and Clinical Biomedical Sciences, University of Florence, Florence, Italy
Centro di Ricerca e Innovazione sulle Patologie Surrenaliche, AOU Careggi, Florence, Italy
ENS@T Center of Excellence, Florence, Italy

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Letizia Canu Department Experimental and Clinical Biomedical Sciences, University of Florence, Florence, Italy
Centro di Ricerca e Innovazione sulle Patologie Surrenaliche, AOU Careggi, Florence, Italy
ENS@T Center of Excellence, Florence, Italy

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Daniele Bani Department of Experimental and Clinical Medicine, Imaging Platform, University of Florence, Italy

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Jiri Neuzil Institute of Biotechnology, Czech Academy of Sciences, Prague-West, Czech Republic
School of Pharmacy and Medical Science, Griffith University, Southport, Queensland, Australia
Faculty of Science and 1st Medical Faculty, Charles University, Prague, Czech Republic

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Mario Maggi Department Experimental and Clinical Biomedical Sciences, University of Florence, Florence, Italy
Centro di Ricerca e Innovazione sulle Patologie Surrenaliche, AOU Careggi, Florence, Italy
ENS@T Center of Excellence, Florence, Italy

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Roberta Squecco Department Experimental and Clinical Medicine, University of Florence, Florence, Italy

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Elena Rapizzi Department Experimental and Clinical Medicine, University of Florence, Florence, Italy
Centro di Ricerca e Innovazione sulle Patologie Surrenaliche, AOU Careggi, Florence, Italy
ENS@T Center of Excellence, Florence, Italy

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was used as loading control. Bar graphs are derived from three or four independent experiment, each of them conducted in triplicate, ± s.d . ( * P < 0.05, ** P < 0.01, *** P < 0.001, **** P < 0.0001.) Moreover, the alteration of SDH

Article Type:
Research Article
Collections:
Advances and Future Directions in Pheochromocytoma and Paraganglioma
DOI:
https://doi.org/10.1530/ERC-23-0167
Volume/Issue:
Volume 30: Issue 10
Restricted access