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Arthur Varoquaux Department of Radiology, Conception Hospital, Aix-Marseille University, Marseille, France

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Electron Kebebew Endocrine Oncology Branch, National Cancer Institute, National Institutes of Health, Bethesda, Maryland, USA

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Fréderic Sebag Department of Endocrine Surgery, Conception Hospital, Aix-Marseille University, Marseille, France

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Katherine Wolf Section on Medical Neuroendocrinology, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health, Bethesda, Maryland, USA

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Jean-François Henry Department of Endocrine Surgery, Conception Hospital, Aix-Marseille University, Marseille, France

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

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David Taïeb Department of Nuclear Medicine, La Timone University Hospital, CERIMED, Aix-Marseille University, Marseille, France

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paraganglia sites. They can occur as sporadic or hereditary tumors, with the latter accounting for at least 40% of cases. Of all known genetic mutations, those in the succinate dehydrogenase ( SDHx ) complex subunit D ( SDHD ) gene are currently the leading

Article Type:
Review Article
DOI:
https://doi.org/10.1530/ERC-16-0241
Volume/Issue:
Volume 23: Issue 9
Free access
Ruth T Casey Department of Medical Genetics, University of Cambridge and NIHR Cambridge Biomedical Research Centre and Cancer Research UK Cambridge Centre, Cambridge, UK
Department of Endocrinology, Cambridge University NHS Foundation Trust, Cambridge, UK

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Benjamin G Challis Department of Endocrinology, Cambridge University NHS Foundation Trust, Cambridge, UK

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Alison Marker Department of Histopathology, Cambridge University NHS Foundation Trust, Cambridge, UK

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Deborah Pitfield Department of Endocrinology, Cambridge University NHS Foundation Trust, Cambridge, UK

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Heok K Cheow Department of Radiology, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK

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Ashley Shaw Department of Radiology, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK

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Soo-Mi Park Department of Medical Genetics, University of Cambridge and NIHR Cambridge Biomedical Research Centre and Cancer Research UK Cambridge Centre, Cambridge, UK

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Helen L Simpson Department of Diabetes and Endocrinology, University College London Hospitals, NHS Foundation Trust, London, UK

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Eamonn R Maher Department of Medical Genetics, University of Cambridge and NIHR Cambridge Biomedical Research Centre and Cancer Research UK Cambridge Centre, Cambridge, UK

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et al . 2015 ). It is now recognised that the SDHA gene is the most common SDHx germline mutation implicated in development of SDH-deficient WT GIST ( Boikos et al . 2016 ). Recently, the European-American-Asian Pheochromocytoma

Article Type:
Letter
DOI:
https://doi.org/10.1530/ERC-17-0206
Volume/Issue:
Volume 24: Issue 8
Open access
David Taïeb Department of Nuclear Medicine, La Timone University Hospital, CERIMED, Aix-Marseille University, Marseille, France

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Abhishek Jha 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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Giorgio Treglia Clinic of Nuclear Medicine and PET/CT Center, Ente Ospedaliero Cantonale, Bellinzona, Switzerland
Department of Nuclear Medicine and Molecular Imaging, Lausanne University Hospital, Lausanne, Switzerland
Health Technology Assessment Unit, General Directorate, Ente Ospedaliero Cantonale, Bellinzona, Switzerland

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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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Learning points Know the molecular taxonomy of pheochromocytoma and/or paraganglioma (PPGL) and the relationship between various genotypes and imaging phenotypes; Describe imaging features of SDHx -related PPGL; Understand

Article Type:
Review Article
DOI:
https://doi.org/10.1530/ERC-19-0165
Volume/Issue:
Volume 26: Issue 11
Free access
Adrian F Daly Department of Endocrinology, Centre Hospitalier Universitaire de Liège, Liège Université, Liège, Belgium

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Emilie Castermans Department of Human Genetics, Centre Hospitalier Universitaire de Liège, Liège Université, Liège, Belgium

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Lindsey Oudijk Department of Pathology, Erasmus Medical Center, Rotterdam, The Netherlands

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Mirtha A Guitelman Division of Endocrinology, Hospital Carlos G. Durand, Buenos Aires, Argentina

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Pablo Beckers Department of Clinical Chemistry, Centre Hospitalier Universitaire de Liège, Liège Université, Liège, Belgium

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Iulia Potorac Department of Endocrinology, Centre Hospitalier Universitaire de Liège, Liège Université, Liège, Belgium

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Sebastian J C M M Neggers Department of Endocrinology, Erasmus Medical Center, Rotterdam, The Netherlands

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Nathalie Sacre Department of Human Genetics, Centre Hospitalier Universitaire de Liège, Liège Université, Liège, Belgium

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Aart-Jan van der Lely Department of Endocrinology, Erasmus Medical Center, Rotterdam, The Netherlands

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Vincent Bours Department of Human Genetics, Centre Hospitalier Universitaire de Liège, Liège Université, Liège, Belgium

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Wouter W de Herder Department of Endocrinology, Erasmus Medical Center, Rotterdam, The Netherlands

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Albert Beckers Department of Endocrinology, Centre Hospitalier Universitaire de Liège, Liège Université, Liège, Belgium

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. These novel associations are important to recognize in order to direct screening appropriately. For instance, pheochromocytomas and pituitary adenomas can rarely occur together, usually due to germline SDHx mutations ( Dénes et al. 2015 , Xekouki

Article Type:
Letter
DOI:
https://doi.org/10.1530/ERC-18-0065
Volume/Issue:
Volume 25: Issue 5
Free access
Lamis Yehia Genomic Medicine Institute, Lerner Research Institute, Cleveland Clinic, Cleveland, Ohio, USA

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Charis Eng Genomic Medicine Institute, Lerner Research Institute, Cleveland Clinic, Cleveland, Ohio, USA
Taussig Cancer Institute, Cleveland Clinic, Cleveland, Ohio, USA
Department of Genetics and Genome Sciences, Case Western Reserve University School of Medicine, Cleveland, Ohio, USA
Germline High Risk Cancer Focus Group, CASE Comprehensive Cancer Center, Case Western Reserve University, Cleveland, Ohio, USA

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encoding three of the four subunits of succinate dehydrogenase or mitochondrial complex II ( SDHB , SDHC and SDHD , collectively referred to as SDHx ) ( Ni et al . 2008 ). SDHx mutations and variants caused an increase in reactive oxygen species (ROS

Article Type:
Review Article
DOI:
https://doi.org/10.1530/ERC-18-0162
Volume/Issue:
Volume 25: Issue 8
Free access
Katherine I Wolf Department of Medicine, Division of Metabolism, Endocrinology and Diabetes, University of Michigan, Ann Arbor, Michigan, USA

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Linda Rose-Krasnor Pheo Para Alliance and Psychology Department, Brock University, St. Catharines, Ontario, Canada

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Stephanie Alband Pheo Para Alliance, Alexandria, Virginia, USA

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Jacques W M Lenders Department of Internal Medicine, Radboud University Medical Centre, Nijmegen, The Netherlands

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Lauren Fishbein Department of Medicine, Division of Endocrinology, Metabolism and Diabetes, and Department of Biomedical Informatics, University of Colorado School of Medicine, Aurora, Colorado, USA

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%) Susceptibility gene pathogenic variant carrier, n (%) 107 (40%) a   SDHx, n (%) 94 (88%) b   RET , n (%) 4 (3%)   NF1 , n (%) 3 (3%)   MAX, n (%) 2 (2%)   VHL , n (%) 2 (2%)   TMEM127 , n (%) 1 (1

Article Type:
Research Article
DOI:
https://doi.org/10.1530/ERC-23-0349
Volume/Issue:
Volume 31: Issue 6
Restricted access
Mouna Tabebi Department of Biomedical and Clinical Sciences (BKV), Linköping University, Linköping, Sweden

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Peter Söderkvist Department of Biomedical and Clinical Sciences (BKV), Linköping University, Linköping, Sweden
Clinical Genomics Linköping, Linköping University, Linköping, Sweden

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Oliver Gimm Department of Biomedical and Clinical Sciences (BKV), Linköping University, Linköping, Sweden
Department of Surgery, Linköping University, Linköping, Sweden

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). Figure 2 The subdivision of cluster 1, 2 and 3 genes in PPGLs according to tumor biology. PPGLs, pheochromocytomas and paragangliomas. Cluster 1 or the pseudohypoxia cluster includes tumors with mutations in VHL, SDHx, FH, EGLN1/2, IDH3B

Article Type:
Review Article
DOI:
https://doi.org/10.1530/ERC-22-0217
Volume/Issue:
Volume 30: Issue 1
Free access
Hartmut P H Neumann Unit for Preventive Medicine, Department of Internal Medicine, University Medical Center, Albert‐Ludwigs‐University, Hugstetter Straße 55, D‐79106 Freiburg, Germany

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Wouter de Herder Unit for Preventive Medicine, Department of Internal Medicine, University Medical Center, Albert‐Ludwigs‐University, Hugstetter Straße 55, D‐79106 Freiburg, Germany

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: germline mutations of the SDHD gene. Within months, the SDH components B and C (together with SDHD umbrellaed under SDHx) were shown to predispose to similar tumors, if the respective genes (SDHB and SDHC) were mutated ( Niemann & Müller 2000 , Astuti et

Article Type:
Editorial
DOI:
https://doi.org/10.1530/ERC-15-0340
Volume/Issue:
Volume 22: Issue 4
Free access
David Taïeb Department of Nuclear Medicine, La Timone University Hospital, CERIMED, Aix-Marseille University, Marseille, France

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Christelle Fargette Department of Nuclear Medicine, La Timone University Hospital, CERIMED, Aix-Marseille University, Marseille, France

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Abhishek Jha 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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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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. 2008 , Taieb et al. 2009 ). SDHx -related metastatic PPGL typically exhibit a strong positivity in 18 F-FDG and SSTR PET, and a very limited uptake with specific tracers such as 18 F-FDOPA and 123 I-MIBG. This illustrates that the choice of

Article Type:
Review Article
Collections:
Advances and Future Directions in Pheochromocytoma and Paraganglioma
DOI:
https://doi.org/10.1530/ERC-22-0375
Volume/Issue:
Volume 30: Issue 4
Free access
Jenny Welander Department of Clinical and Experimental Medicine, Department of Oncology-Pathology, Department of Surgery, Department of Clinical Science, Department of Molecular Medicine and Surgery, Department of Surgery, Faculty of Health Sciences, Linköping University, Linköping SE-58185, Sweden

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Adam Andreasson Department of Clinical and Experimental Medicine, Department of Oncology-Pathology, Department of Surgery, Department of Clinical Science, Department of Molecular Medicine and Surgery, Department of Surgery, Faculty of Health Sciences, Linköping University, Linköping SE-58185, Sweden

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Michael Brauckhoff Department of Clinical and Experimental Medicine, Department of Oncology-Pathology, Department of Surgery, Department of Clinical Science, Department of Molecular Medicine and Surgery, Department of Surgery, Faculty of Health Sciences, Linköping University, Linköping SE-58185, Sweden
Department of Clinical and Experimental Medicine, Department of Oncology-Pathology, Department of Surgery, Department of Clinical Science, Department of Molecular Medicine and Surgery, Department of Surgery, Faculty of Health Sciences, Linköping University, Linköping SE-58185, Sweden

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Martin Bäckdahl Department of Clinical and Experimental Medicine, Department of Oncology-Pathology, Department of Surgery, Department of Clinical Science, Department of Molecular Medicine and Surgery, Department of Surgery, Faculty of Health Sciences, Linköping University, Linköping SE-58185, Sweden

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Catharina Larsson Department of Clinical and Experimental Medicine, Department of Oncology-Pathology, Department of Surgery, Department of Clinical Science, Department of Molecular Medicine and Surgery, Department of Surgery, Faculty of Health Sciences, Linköping University, Linköping SE-58185, Sweden

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Oliver Gimm Department of Clinical and Experimental Medicine, Department of Oncology-Pathology, Department of Surgery, Department of Clinical Science, Department of Molecular Medicine and Surgery, Department of Surgery, Faculty of Health Sciences, Linköping University, Linköping SE-58185, Sweden
Department of Clinical and Experimental Medicine, Department of Oncology-Pathology, Department of Surgery, Department of Clinical Science, Department of Molecular Medicine and Surgery, Department of Surgery, Faculty of Health Sciences, Linköping University, Linköping SE-58185, Sweden

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Peter Söderkvist Department of Clinical and Experimental Medicine, Department of Oncology-Pathology, Department of Surgery, Department of Clinical Science, Department of Molecular Medicine and Surgery, Department of Surgery, Faculty of Health Sciences, Linköping University, Linköping SE-58185, Sweden

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, and SDHx respectively ( Welander et al . 2011 , Dahia 2014 ). In recent years, additional susceptibility genes for pheochromocytoma and paraganglioma have been discovered, including TMEM127 ( Qin et al . 2010 ), MAX ( Comino-Mendez et al

Article Type:
Research Article
DOI:
https://doi.org/10.1530/ERC-13-0384
Volume/Issue:
Volume 21: Issue 3
Free access