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Adrian F Daly Department of Endocrinology Centre Hospitalier Universitaire de Liège, University of Liège, Domaine Universitaire du Sart‐Tilman, 4000 Liège, Belgium

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Albert Beckers Department of Endocrinology Centre Hospitalier Universitaire de Liège, University of Liège, Domaine Universitaire du Sart‐Tilman, 4000 Liège, Belgium

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) subunit genes, SDHA through SDHD (collectively SDHx ). Mutations of these genes occurring at the germline and somatic levels interfere with mRNA expression and protein function and have profound effects on tumoral biochemical pathways, thereby

Article Type:
Article Commentary
DOI:
https://doi.org/10.1530/ERC-14-0296
Volume/Issue:
Volume 21: Issue 4
Free 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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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
V H M Tsang Cancer Genetics Laboratory, Department of Endocrinology, Department of Surgery, Department of Anatomical Pathology, Cancer Diagnosis and Oncology Group, Department of Endocrine and Oncology Surgery, Neurogenetics Research Laboratory, Department of ENT Surgery, Department of Neurology, Bill Walsh Translational Cancer Research Laboratory, Kolling Institute of Medical Research
Cancer Genetics Laboratory, Department of Endocrinology, Department of Surgery, Department of Anatomical Pathology, Cancer Diagnosis and Oncology Group, Department of Endocrine and Oncology Surgery, Neurogenetics Research Laboratory, Department of ENT Surgery, Department of Neurology, Bill Walsh Translational Cancer Research Laboratory, Kolling Institute of Medical Research

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T Dwight Cancer Genetics Laboratory, Department of Endocrinology, Department of Surgery, Department of Anatomical Pathology, Cancer Diagnosis and Oncology Group, Department of Endocrine and Oncology Surgery, Neurogenetics Research Laboratory, Department of ENT Surgery, Department of Neurology, Bill Walsh Translational Cancer Research Laboratory, Kolling Institute of Medical Research

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D E Benn Cancer Genetics Laboratory, Department of Endocrinology, Department of Surgery, Department of Anatomical Pathology, Cancer Diagnosis and Oncology Group, Department of Endocrine and Oncology Surgery, Neurogenetics Research Laboratory, Department of ENT Surgery, Department of Neurology, Bill Walsh Translational Cancer Research Laboratory, Kolling Institute of Medical Research

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G Y Meyer-Rochow Cancer Genetics Laboratory, Department of Endocrinology, Department of Surgery, Department of Anatomical Pathology, Cancer Diagnosis and Oncology Group, Department of Endocrine and Oncology Surgery, Neurogenetics Research Laboratory, Department of ENT Surgery, Department of Neurology, Bill Walsh Translational Cancer Research Laboratory, Kolling Institute of Medical Research
Cancer Genetics Laboratory, Department of Endocrinology, Department of Surgery, Department of Anatomical Pathology, Cancer Diagnosis and Oncology Group, Department of Endocrine and Oncology Surgery, Neurogenetics Research Laboratory, Department of ENT Surgery, Department of Neurology, Bill Walsh Translational Cancer Research Laboratory, Kolling Institute of Medical Research

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A J Gill Cancer Genetics Laboratory, Department of Endocrinology, Department of Surgery, Department of Anatomical Pathology, Cancer Diagnosis and Oncology Group, Department of Endocrine and Oncology Surgery, Neurogenetics Research Laboratory, Department of ENT Surgery, Department of Neurology, Bill Walsh Translational Cancer Research Laboratory, Kolling Institute of Medical Research
Cancer Genetics Laboratory, Department of Endocrinology, Department of Surgery, Department of Anatomical Pathology, Cancer Diagnosis and Oncology Group, Department of Endocrine and Oncology Surgery, Neurogenetics Research Laboratory, Department of ENT Surgery, Department of Neurology, Bill Walsh Translational Cancer Research Laboratory, Kolling Institute of Medical Research

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M Sywak Cancer Genetics Laboratory, Department of Endocrinology, Department of Surgery, Department of Anatomical Pathology, Cancer Diagnosis and Oncology Group, Department of Endocrine and Oncology Surgery, Neurogenetics Research Laboratory, Department of ENT Surgery, Department of Neurology, Bill Walsh Translational Cancer Research Laboratory, Kolling Institute of Medical Research

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S Sidhu Cancer Genetics Laboratory, Department of Endocrinology, Department of Surgery, Department of Anatomical Pathology, Cancer Diagnosis and Oncology Group, Department of Endocrine and Oncology Surgery, Neurogenetics Research Laboratory, Department of ENT Surgery, Department of Neurology, Bill Walsh Translational Cancer Research Laboratory, Kolling Institute of Medical Research
Cancer Genetics Laboratory, Department of Endocrinology, Department of Surgery, Department of Anatomical Pathology, Cancer Diagnosis and Oncology Group, Department of Endocrine and Oncology Surgery, Neurogenetics Research Laboratory, Department of ENT Surgery, Department of Neurology, Bill Walsh Translational Cancer Research Laboratory, Kolling Institute of Medical Research

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D Veivers Cancer Genetics Laboratory, Department of Endocrinology, Department of Surgery, Department of Anatomical Pathology, Cancer Diagnosis and Oncology Group, Department of Endocrine and Oncology Surgery, Neurogenetics Research Laboratory, Department of ENT Surgery, Department of Neurology, Bill Walsh Translational Cancer Research Laboratory, Kolling Institute of Medical Research
Cancer Genetics Laboratory, Department of Endocrinology, Department of Surgery, Department of Anatomical Pathology, Cancer Diagnosis and Oncology Group, Department of Endocrine and Oncology Surgery, Neurogenetics Research Laboratory, Department of ENT Surgery, Department of Neurology, Bill Walsh Translational Cancer Research Laboratory, Kolling Institute of Medical Research

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C M Sue Cancer Genetics Laboratory, Department of Endocrinology, Department of Surgery, Department of Anatomical Pathology, Cancer Diagnosis and Oncology Group, Department of Endocrine and Oncology Surgery, Neurogenetics Research Laboratory, Department of ENT Surgery, Department of Neurology, Bill Walsh Translational Cancer Research Laboratory, Kolling Institute of Medical Research
Cancer Genetics Laboratory, Department of Endocrinology, Department of Surgery, Department of Anatomical Pathology, Cancer Diagnosis and Oncology Group, Department of Endocrine and Oncology Surgery, Neurogenetics Research Laboratory, Department of ENT Surgery, Department of Neurology, Bill Walsh Translational Cancer Research Laboratory, Kolling Institute of Medical Research

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B G Robinson Cancer Genetics Laboratory, Department of Endocrinology, Department of Surgery, Department of Anatomical Pathology, Cancer Diagnosis and Oncology Group, Department of Endocrine and Oncology Surgery, Neurogenetics Research Laboratory, Department of ENT Surgery, Department of Neurology, Bill Walsh Translational Cancer Research Laboratory, Kolling Institute of Medical Research
Cancer Genetics Laboratory, Department of Endocrinology, Department of Surgery, Department of Anatomical Pathology, Cancer Diagnosis and Oncology Group, Department of Endocrine and Oncology Surgery, Neurogenetics Research Laboratory, Department of ENT Surgery, Department of Neurology, Bill Walsh Translational Cancer Research Laboratory, Kolling Institute of Medical Research

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R J Clifton-Bligh Cancer Genetics Laboratory, Department of Endocrinology, Department of Surgery, Department of Anatomical Pathology, Cancer Diagnosis and Oncology Group, Department of Endocrine and Oncology Surgery, Neurogenetics Research Laboratory, Department of ENT Surgery, Department of Neurology, Bill Walsh Translational Cancer Research Laboratory, Kolling Institute of Medical Research
Cancer Genetics Laboratory, Department of Endocrinology, Department of Surgery, Department of Anatomical Pathology, Cancer Diagnosis and Oncology Group, Department of Endocrine and Oncology Surgery, Neurogenetics Research Laboratory, Department of ENT Surgery, Department of Neurology, Bill Walsh Translational Cancer Research Laboratory, Kolling Institute of Medical Research

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N R Parker Cancer Genetics Laboratory, Department of Endocrinology, Department of Surgery, Department of Anatomical Pathology, Cancer Diagnosis and Oncology Group, Department of Endocrine and Oncology Surgery, Neurogenetics Research Laboratory, Department of ENT Surgery, Department of Neurology, Bill Walsh Translational Cancer Research Laboratory, Kolling Institute of Medical Research

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succinate dehydrogenase (SDH) subunits A, B, C and D ( SDHA, SDHB, SDHC, SDHD ; collectively SDHx ), but also in VHL, RET ( Buffet et al . 2012 ), TMEM127 ( Qin et al . 2010 ), MAX ( Comino-Mendez et al . 2011 ), SDHAF2 ( Bayley et al . 2010

Article Type:
Research Article
DOI:
https://doi.org/10.1530/ERC-13-0519
Volume/Issue:
Volume 21: Issue 3
Free access
Hans K Ghayee
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Bas Havekes Division of Endocrinology, Reproductive Biology and Medicine Program, Department of Endocrinology and Metabolism, Institute of Clinical Chemistry & Laboratory Medicine and Department of Medicine, Department of Medicine, Medical Oncology Branch, Department of Internal Medicine, Southwesterm Medical Center, University of Texas, 5323 Harry Hines Boulevard, Suite Y-5.318, Dallas, Texas 75390-8857, USA

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Eleonora P M Corssmit Division of Endocrinology, Reproductive Biology and Medicine Program, Department of Endocrinology and Metabolism, Institute of Clinical Chemistry & Laboratory Medicine and Department of Medicine, Department of Medicine, Medical Oncology Branch, Department of Internal Medicine, Southwesterm Medical Center, University of Texas, 5323 Harry Hines Boulevard, Suite Y-5.318, Dallas, Texas 75390-8857, USA

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Graeme Eisenhofer Division of Endocrinology, Reproductive Biology and Medicine Program, Department of Endocrinology and Metabolism, Institute of Clinical Chemistry & Laboratory Medicine and Department of Medicine, Department of Medicine, Medical Oncology Branch, Department of Internal Medicine, Southwesterm Medical Center, University of Texas, 5323 Harry Hines Boulevard, Suite Y-5.318, Dallas, Texas 75390-8857, USA

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Stephen R Hammes
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Zahid Ahmad
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Alexander Tessnow
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Ivica Lazúrová Division of Endocrinology, Reproductive Biology and Medicine Program, Department of Endocrinology and Metabolism, Institute of Clinical Chemistry & Laboratory Medicine and Department of Medicine, Department of Medicine, Medical Oncology Branch, Department of Internal Medicine, Southwesterm Medical Center, University of Texas, 5323 Harry Hines Boulevard, Suite Y-5.318, Dallas, Texas 75390-8857, USA

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Karen T Adams Division of Endocrinology, Reproductive Biology and Medicine Program, Department of Endocrinology and Metabolism, Institute of Clinical Chemistry & Laboratory Medicine and Department of Medicine, Department of Medicine, Medical Oncology Branch, Department of Internal Medicine, Southwesterm Medical Center, University of Texas, 5323 Harry Hines Boulevard, Suite Y-5.318, Dallas, Texas 75390-8857, USA

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Antonio T Fojo Division of Endocrinology, Reproductive Biology and Medicine Program, Department of Endocrinology and Metabolism, Institute of Clinical Chemistry & Laboratory Medicine and Department of Medicine, Department of Medicine, Medical Oncology Branch, Department of Internal Medicine, Southwesterm Medical Center, University of Texas, 5323 Harry Hines Boulevard, Suite Y-5.318, Dallas, Texas 75390-8857, USA

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Karel Pacak Division of Endocrinology, Reproductive Biology and Medicine Program, Department of Endocrinology and Metabolism, Institute of Clinical Chemistry & Laboratory Medicine and Department of Medicine, Department of Medicine, Medical Oncology Branch, Department of Internal Medicine, Southwesterm Medical Center, University of Texas, 5323 Harry Hines Boulevard, Suite Y-5.318, Dallas, Texas 75390-8857, USA

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Richard J Auchus
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for PGLs in other sites, we hypothesized that most mediastinal PGLs are associated with germ line SDHx mutations, norepinephrine and/or dopamine excess, and aggressive behavior. We prospectively and retrospectively identified ten patients with

Article Type:
Research Article
DOI:
https://doi.org/10.1677/ERC-08-0214
Volume/Issue:
Volume 16: Issue 1
Free access
Sophie Moog PARCC, INSERM UMR970, Equipe Labellisée par la Ligue contre le Cancer, Paris, France
Université de Paris, Paris, France

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Charlotte Lussey-Lepoutre PARCC, INSERM UMR970, Equipe Labellisée par la Ligue contre le Cancer, Paris, France
Department of Nuclear Medicine, Sorbonne University, Pitie-Salpetriere Hospital, Paris, France

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Judith Favier PARCC, INSERM UMR970, Equipe Labellisée par la Ligue contre le Cancer, Paris, France
Université de Paris, Paris, France

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(neurofibrosis type 1), TMEM127 , MAX , MET and HRAS . Cluster 3 is characterized by the activation of the Wnt-signaling pathway with MAML3 (mastermind-like transcriptional coactivator 3) anomalies ( Fishbein et al. 2017 ). SDHx genes encode the four

Article Type:
Review Article
DOI:
https://doi.org/10.1530/ERC-20-0346
Volume/Issue:
Volume 27: Issue 12
Free access
Susan Richter Institute for Clinical Chemistry and Laboratory Medicine, University Hospital Carl Gustav Carus, Medical Faculty Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany

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Bei Qiu Institute for Clinical Chemistry and Laboratory Medicine, University Hospital Carl Gustav Carus, Medical Faculty Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany

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Mirthe Ghering Department of Internal Medicine, Radboud University Medical Centre, Nijmegen, The Netherlands

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Carola Kunath Department of Medicine III, University Hospital Carl Gustav Carus, Medical Faculty Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany

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Georgiana Constantinescu Department of Medicine III, University Hospital Carl Gustav Carus, Medical Faculty Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany

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Charlotte Luths Department of Medicine III, University Hospital Carl Gustav Carus, Medical Faculty Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany

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Christina Pamporaki Department of Medicine III, University Hospital Carl Gustav Carus, Medical Faculty Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany

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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, Dresden, Germany
Department of Medicine III, University Hospital Carl Gustav Carus, Medical Faculty Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany

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Leah Meuter Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland, USA

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Aleksandra Kwapiszewska Department of Hypertension, Institute of Cardiology, Warsaw, Poland

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Timo Deutschbein Division of Endocrinology and Diabetes, Department of Internal Medicine I, University Hospital, University of Würzburg, Würzburg, Germany
Medicover Oldenburg MVZ, Oldenburg, Germany

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Svenja Nölting Medizinische Klinik and Poliklinik IV, Ludwig-Maximilians-Universität München, Munich, Germany
Department for Endocrinology, Diabetology and Clinical Nutrition, UniversitätsSpital Zürich, Zurich, Switzerland

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Mirko Peitzsch Institute for Clinical Chemistry and Laboratory Medicine, University Hospital Carl Gustav Carus, Medical Faculty Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany

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Mercedes Robledo Hereditary Endocrine Cancer Group, CNIO, Madrid, Spain
Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spain

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Aleksander Prejbisz Department of Hypertension, Institute of Cardiology, Warsaw, Poland

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

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Volker Gudziol Department of Otorhinolaryngology, University Hospital Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany
Klinik für Hals-Nasen-Ohrenheilkunde, Kopf- und Hals-Chirurgie, Plastische Operationen, Städtisches Klinikum Dresden, Akademisches Lehrkrankenhaus der Technischen Universität Dresden, Dresden, Germany

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Henri J L M Timmers Department of Internal Medicine, Radboud University Medical Centre, Nijmegen, The Netherlands

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Graeme Eisenhofer Institute for Clinical Chemistry and Laboratory Medicine, University Hospital Carl Gustav Carus, Medical Faculty Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany
Department of Medicine III, University Hospital Carl Gustav Carus, Medical Faculty Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany

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incidentally during imaging studies ( Taieb et al. 2014 , Cass et al. 2020 ). It is well established that germline mutations in succinate dehydrogenase ( SDHx ) genes predispose to pheochromocytoma and paraganglioma ( Amar et al. 2005 , Benn et al

Article Type:
Research Article
DOI:
https://doi.org/10.1530/ERC-21-0359
Volume/Issue:
Volume 29: Issue 4
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
Rodrigo Almeida Toledo Division of Hematology and Medical Oncology, Department of Medicine, Cancer Therapy and Research Center, University of Texas Health Science Center at San Antonio (UTHSCSA), San Antonio, Texas, USA

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). Figure 1 Activation of HIF2α by frequent somatic mutations in the VHL gene is the hallmark of clear cell renal cell carcinoma (ccRCC). VHL is also a major PPGL susceptibility gene. In addition to VHL , mutations in SDHx , FH and MET genes

Article Type:
Article Commentary
DOI:
https://doi.org/10.1530/ERC-16-0479
Volume/Issue:
Volume 24: Issue 9
Free access
Diana E Benn Cancer Genetics, Kolling Institute, Royal North Shore Hospital, University of Sydney, St Leonards, New South Wales 2065, Australia

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Bruce G Robinson Cancer Genetics, Kolling Institute, Royal North Shore Hospital, University of Sydney, St Leonards, New South Wales 2065, Australia

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Roderick J Clifton-Bligh Cancer Genetics, Kolling Institute, Royal North Shore Hospital, University of Sydney, St Leonards, New South Wales 2065, Australia

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), and PGL5 is associated with mutations in SDHA ( Burnichon et al . 2010 ). Germline mutations in predisposition genes are now found in 25–30% of PPGLs overall ( Gimenez-Roqueplo et al . 2012 ). Germline mutations in SDHx genes are the commonest

Article Type:
Review Article
DOI:
https://doi.org/10.1530/ERC-15-0268
Volume/Issue:
Volume 22: 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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( Lenders et al. 2020 ); (c) 2021 International consensus on initial screening and follow-up of asymptomatic SDHx mutation carriers outlining the most important considerations and diagnostic steps in the assessment of SDHx carriers ( Amar et al. 2021

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