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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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coincidental. Succinate dehydrogenase (SDH) gene variants (collectively known as SDHx ) can associate with PPGL ( Baysal et al. 2000 ). The association of PitNET and PPGL in the setting of SDHx variant was established at the molecular level in 2012

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
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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identify the underlying cause, and patients who have a confirmed mutation in an SDHx gene but no PPGL yet should undergo regular follow-up ( Lenders et al. 2014 , Amar et al. 2021 ). Besides PPGL, SDHx PVs predispose to renal cell carcinomas

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
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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( Buffet et al. 2019 ). The study compared the management and outcome of 221 patients diagnosed with PGL carrying mutations in SDHx or VHL who were informed of their positive genetic status either within the first year or more than 7 years after the

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