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Nicole Bechmann Institute of Clinical Chemistry and Laboratory Medicine, University Hospital Carl Gustav Carus, Medical Faculty Carl Gustav Carus, Technische Universität Dresden, Fetscherstrasse, Dresden, Germany
Department of Medicine III, University Hospital Carl Gustav Carus, Medical Faculty Carl Gustav Carus, Technische Universität Dresden, Fetscherstrasse, Dresden, Germany
Department of Experimental Diabetology, German Institute of Human Nutrition Potsdam-Rehbruecke, Nuthetal, Germany
German Center for Diabetes Research (DZD), München-Neuherberg, Germany

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Mats Leif Moskopp Department of Neurosurgery, Vivantes Friedrichshain Hospital, Charité Academic Teaching Hospital, Landsberger Allee, Berlin, Germany
Institute of Physiology, Medical Faculty Carl Gustav Carus, Technische Universität Dresden, Fetscherstrasse, Dresden, Germany

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Martin Ullrich Department of Radiopharmaceutical and Chemical Biology, Helmholtz-Zentrum Dresden-Rossendorf, Institute of Radiopharmaceutical Cancer Research, Bautzner Landstrasse, Dresden, Germany

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Bruna Calsina Hereditary Endocrine Cancer Group, Spanish National Cancer Research Centre (CNIO), Madrid, Spain
Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spain

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Pål William Wallace Institute of 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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Susan Richter Institute of 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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Markus Friedemann Institute of 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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Katharina Langton Department of Medicine III, University Hospital Carl Gustav Carus, Medical Faculty Carl Gustav Carus, Technische Universität Dresden, Fetscherstrasse, Dresden, Germany

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Stephanie M J Fliedner First Department of Medicine, University Medical Center Schleswig-Holstein, Lübeck, 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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Svenja Nölting Department of Medicine IV, University Hospital, LMU Munich, Munich, Germany

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Felix Beuschlein Department of Medicine IV, University Hospital, LMU Munich, Munich, Germany
Department of Endocrinology, Diabetology and Clinical Nutrition, UniviersitätsSpital Zürich, Zurich, Switzerland

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Martin Fassnacht Division of Endocrinology and Diabetes, Department of Internal Medicine I, University Hospital of Würzburg, University of Würzburg, Würzburg, Germany

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

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

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

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Peter Dieterich Institute of Physiology, Medical Faculty Carl Gustav Carus, Technische Universität Dresden, Fetscherstrasse, Dresden, Germany

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Jens Pietzsch Department of Radiopharmaceutical and Chemical Biology, Helmholtz-Zentrum Dresden-Rossendorf, Institute of Radiopharmaceutical Cancer Research, Bautzner Landstrasse, Dresden, Germany
Faculty of Chemistry and Food Chemistry, School of Science, Technische Universität Dresden, Mommsenstrasse, Dresden, Germany

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Ben Wielockx Institute of 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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Mercedes Robledo Hereditary Endocrine Cancer Group, Spanish National Cancer Research Centre (CNIO), Madrid, Spain
Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spain

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Nan Qin Division of Pediatric Neuro-Oncogenomics, German Cancer Research Center (DKFZ), Heidelberg, Germany
German Consortium for Translational Cancer Research (DKTK), partner site Essen/Düsseldorf, Düsseldorf, Germany
Department of Pediatric Oncology, Hematology, and Clinical Immunology, Medical Faculty, University Hospital Düsseldorf, Düsseldorf, Germany
Department of Neuropathology, Medical Faculty, Heinrich-Heine University Düsseldorf, Düsseldorf, Germany

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

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subunits ( SDHx ), prolyl hydroxylase domain ( PHD ), fumarate hydratase ( FH ), malate dehydrogenase 2 ( MDH2 ), mitochondrial 2-oxoglutarate/malate carrier ( SLC25A11 ), isocitrate dehydrogenases ( IDH1 / IDH2 / IDH3B ), glutamic-oxaloacetic transaminase

Article Type:
Research Article
DOI:
https://doi.org/10.1530/ERC-20-0205
Volume/Issue:
Volume 27: Issue 11
Restricted access
Pamela Brock Divison of Human Genetics, Department of Internal Medicine and the Comprehensive Cancer Center, The Ohio State University, Columbus, Ohio, USA

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Jennifer L Geurts Department of Surgery, Medical College of Wisconsin, Milwaukee, Wisconsin, USA

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Paulien Van Galen Hereditary Cancer Clinic and Hereditary Endocrine Clinic, Alberta Children’s Hospital, Calgary, Alberta, USA

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Erica Blouch Center for Cancer Risk Assessment, Massachusetts General Hospital, Boston, Massachusetts, USA

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James Welch Metabolic Disease Branch, National Institute of Diabetes and Digestive and Kidney Disease, National Institutes of Health, Bethesda, Maryland, USA

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Amy Kunz Allegheny Health Network Cancer Institute, Pittsburgh, Pennsylvania, USA

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Lauren Desrosiers Texas Children’s Hospital, Baylor College of Medicine, Houston, Texas, USA

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Jennifer Gauerke Center for Individualized Medicine, College of Medicine, Mayo Clinic, Rochester, Minnesota, USA

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Samuel Hyde Clinical Cancer Genetics, The University of Texas MD Anderson Cancer Center, Houston, Texas, USA

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evaluate the clinical validity of gene-disease relationships, for which an evidence-based framework has been published and a hereditary cancer working group convened that has already curated many HEN genes, including the SDHx genes, MAX , TMEM127 , CDC

Article Type:
Review Article
DOI:
https://doi.org/10.1530/ERC-19-0454
Volume/Issue:
Volume 27: Issue 8
Free access
Rodrigo A Toledo Endocrine Genetics Unit (Laboratório de Investigação Médica/LIM-25) of Hospital das Clínicas, Nursing School, School of Public Health, Human Genome Research Center, Division of Genetics, Division of Endocrinology, Brazilian National Laboratory of Biosciences, Centro Integral Oncológico Clara Campal, Department of Genetics, Endocrinology Division, Laboratory of Epidemiology and Population Sciences, University of São Paulo School of Medicine, São Paulo, São Paulo 05403-010, Brazil

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Roxanne Hatakana Endocrine Genetics Unit (Laboratório de Investigação Médica/LIM-25) of Hospital das Clínicas, Nursing School, School of Public Health, Human Genome Research Center, Division of Genetics, Division of Endocrinology, Brazilian National Laboratory of Biosciences, Centro Integral Oncológico Clara Campal, Department of Genetics, Endocrinology Division, Laboratory of Epidemiology and Population Sciences, University of São Paulo School of Medicine, São Paulo, São Paulo 05403-010, Brazil

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Delmar M Lourenço Jr Endocrine Genetics Unit (Laboratório de Investigação Médica/LIM-25) of Hospital das Clínicas, Nursing School, School of Public Health, Human Genome Research Center, Division of Genetics, Division of Endocrinology, Brazilian National Laboratory of Biosciences, Centro Integral Oncológico Clara Campal, Department of Genetics, Endocrinology Division, Laboratory of Epidemiology and Population Sciences, University of São Paulo School of Medicine, São Paulo, São Paulo 05403-010, Brazil

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Susan C Lindsey Endocrine Genetics Unit (Laboratório de Investigação Médica/LIM-25) of Hospital das Clínicas, Nursing School, School of Public Health, Human Genome Research Center, Division of Genetics, Division of Endocrinology, Brazilian National Laboratory of Biosciences, Centro Integral Oncológico Clara Campal, Department of Genetics, Endocrinology Division, Laboratory of Epidemiology and Population Sciences, University of São Paulo School of Medicine, São Paulo, São Paulo 05403-010, Brazil

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Cleber P Camacho Endocrine Genetics Unit (Laboratório de Investigação Médica/LIM-25) of Hospital das Clínicas, Nursing School, School of Public Health, Human Genome Research Center, Division of Genetics, Division of Endocrinology, Brazilian National Laboratory of Biosciences, Centro Integral Oncológico Clara Campal, Department of Genetics, Endocrinology Division, Laboratory of Epidemiology and Population Sciences, University of São Paulo School of Medicine, São Paulo, São Paulo 05403-010, Brazil

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Marcio Almeida Endocrine Genetics Unit (Laboratório de Investigação Médica/LIM-25) of Hospital das Clínicas, Nursing School, School of Public Health, Human Genome Research Center, Division of Genetics, Division of Endocrinology, Brazilian National Laboratory of Biosciences, Centro Integral Oncológico Clara Campal, Department of Genetics, Endocrinology Division, Laboratory of Epidemiology and Population Sciences, University of São Paulo School of Medicine, São Paulo, São Paulo 05403-010, Brazil

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José V Lima Jr Endocrine Genetics Unit (Laboratório de Investigação Médica/LIM-25) of Hospital das Clínicas, Nursing School, School of Public Health, Human Genome Research Center, Division of Genetics, Division of Endocrinology, Brazilian National Laboratory of Biosciences, Centro Integral Oncológico Clara Campal, Department of Genetics, Endocrinology Division, Laboratory of Epidemiology and Population Sciences, University of São Paulo School of Medicine, São Paulo, São Paulo 05403-010, Brazil

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Tomoko Sekiya Endocrine Genetics Unit (Laboratório de Investigação Médica/LIM-25) of Hospital das Clínicas, Nursing School, School of Public Health, Human Genome Research Center, Division of Genetics, Division of Endocrinology, Brazilian National Laboratory of Biosciences, Centro Integral Oncológico Clara Campal, Department of Genetics, Endocrinology Division, Laboratory of Epidemiology and Population Sciences, University of São Paulo School of Medicine, São Paulo, São Paulo 05403-010, Brazil

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Elena Garralda Endocrine Genetics Unit (Laboratório de Investigação Médica/LIM-25) of Hospital das Clínicas, Nursing School, School of Public Health, Human Genome Research Center, Division of Genetics, Division of Endocrinology, Brazilian National Laboratory of Biosciences, Centro Integral Oncológico Clara Campal, Department of Genetics, Endocrinology Division, Laboratory of Epidemiology and Population Sciences, University of São Paulo School of Medicine, São Paulo, São Paulo 05403-010, Brazil

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Michel S Naslavsky Endocrine Genetics Unit (Laboratório de Investigação Médica/LIM-25) of Hospital das Clínicas, Nursing School, School of Public Health, Human Genome Research Center, Division of Genetics, Division of Endocrinology, Brazilian National Laboratory of Biosciences, Centro Integral Oncológico Clara Campal, Department of Genetics, Endocrinology Division, Laboratory of Epidemiology and Population Sciences, University of São Paulo School of Medicine, São Paulo, São Paulo 05403-010, Brazil

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Guilherme L Yamamoto Endocrine Genetics Unit (Laboratório de Investigação Médica/LIM-25) of Hospital das Clínicas, Nursing School, School of Public Health, Human Genome Research Center, Division of Genetics, Division of Endocrinology, Brazilian National Laboratory of Biosciences, Centro Integral Oncológico Clara Campal, Department of Genetics, Endocrinology Division, Laboratory of Epidemiology and Population Sciences, University of São Paulo School of Medicine, São Paulo, São Paulo 05403-010, Brazil

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Monize Lazar Endocrine Genetics Unit (Laboratório de Investigação Médica/LIM-25) of Hospital das Clínicas, Nursing School, School of Public Health, Human Genome Research Center, Division of Genetics, Division of Endocrinology, Brazilian National Laboratory of Biosciences, Centro Integral Oncológico Clara Campal, Department of Genetics, Endocrinology Division, Laboratory of Epidemiology and Population Sciences, University of São Paulo School of Medicine, São Paulo, São Paulo 05403-010, Brazil

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Osorio Meirelles Endocrine Genetics Unit (Laboratório de Investigação Médica/LIM-25) of Hospital das Clínicas, Nursing School, School of Public Health, Human Genome Research Center, Division of Genetics, Division of Endocrinology, Brazilian National Laboratory of Biosciences, Centro Integral Oncológico Clara Campal, Department of Genetics, Endocrinology Division, Laboratory of Epidemiology and Population Sciences, University of São Paulo School of Medicine, São Paulo, São Paulo 05403-010, Brazil

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Tiago J P Sobreira Endocrine Genetics Unit (Laboratório de Investigação Médica/LIM-25) of Hospital das Clínicas, Nursing School, School of Public Health, Human Genome Research Center, Division of Genetics, Division of Endocrinology, Brazilian National Laboratory of Biosciences, Centro Integral Oncológico Clara Campal, Department of Genetics, Endocrinology Division, Laboratory of Epidemiology and Population Sciences, University of São Paulo School of Medicine, São Paulo, São Paulo 05403-010, Brazil

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Maria Lucia Lebrao Endocrine Genetics Unit (Laboratório de Investigação Médica/LIM-25) of Hospital das Clínicas, Nursing School, School of Public Health, Human Genome Research Center, Division of Genetics, Division of Endocrinology, Brazilian National Laboratory of Biosciences, Centro Integral Oncológico Clara Campal, Department of Genetics, Endocrinology Division, Laboratory of Epidemiology and Population Sciences, University of São Paulo School of Medicine, São Paulo, São Paulo 05403-010, Brazil

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Yeda A O Duarte Endocrine Genetics Unit (Laboratório de Investigação Médica/LIM-25) of Hospital das Clínicas, Nursing School, School of Public Health, Human Genome Research Center, Division of Genetics, Division of Endocrinology, Brazilian National Laboratory of Biosciences, Centro Integral Oncológico Clara Campal, Department of Genetics, Endocrinology Division, Laboratory of Epidemiology and Population Sciences, University of São Paulo School of Medicine, São Paulo, São Paulo 05403-010, Brazil

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John Blangero Endocrine Genetics Unit (Laboratório de Investigação Médica/LIM-25) of Hospital das Clínicas, Nursing School, School of Public Health, Human Genome Research Center, Division of Genetics, Division of Endocrinology, Brazilian National Laboratory of Biosciences, Centro Integral Oncológico Clara Campal, Department of Genetics, Endocrinology Division, Laboratory of Epidemiology and Population Sciences, University of São Paulo School of Medicine, São Paulo, São Paulo 05403-010, Brazil

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Mayana Zatz Endocrine Genetics Unit (Laboratório de Investigação Médica/LIM-25) of Hospital das Clínicas, Nursing School, School of Public Health, Human Genome Research Center, Division of Genetics, Division of Endocrinology, Brazilian National Laboratory of Biosciences, Centro Integral Oncológico Clara Campal, Department of Genetics, Endocrinology Division, Laboratory of Epidemiology and Population Sciences, University of São Paulo School of Medicine, São Paulo, São Paulo 05403-010, Brazil

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Janete M Cerutti Endocrine Genetics Unit (Laboratório de Investigação Médica/LIM-25) of Hospital das Clínicas, Nursing School, School of Public Health, Human Genome Research Center, Division of Genetics, Division of Endocrinology, Brazilian National Laboratory of Biosciences, Centro Integral Oncológico Clara Campal, Department of Genetics, Endocrinology Division, Laboratory of Epidemiology and Population Sciences, University of São Paulo School of Medicine, São Paulo, São Paulo 05403-010, Brazil

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Rui M B Maciel Endocrine Genetics Unit (Laboratório de Investigação Médica/LIM-25) of Hospital das Clínicas, Nursing School, School of Public Health, Human Genome Research Center, Division of Genetics, Division of Endocrinology, Brazilian National Laboratory of Biosciences, Centro Integral Oncológico Clara Campal, Department of Genetics, Endocrinology Division, Laboratory of Epidemiology and Population Sciences, University of São Paulo School of Medicine, São Paulo, São Paulo 05403-010, Brazil

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Sergio P A Toledo Endocrine Genetics Unit (Laboratório de Investigação Médica/LIM-25) of Hospital das Clínicas, Nursing School, School of Public Health, Human Genome Research Center, Division of Genetics, Division of Endocrinology, Brazilian National Laboratory of Biosciences, Centro Integral Oncológico Clara Campal, Department of Genetics, Endocrinology Division, Laboratory of Epidemiology and Population Sciences, University of São Paulo School of Medicine, São Paulo, São Paulo 05403-010, Brazil
Endocrine Genetics Unit (Laboratório de Investigação Médica/LIM-25) of Hospital das Clínicas, Nursing School, School of Public Health, Human Genome Research Center, Division of Genetics, Division of Endocrinology, Brazilian National Laboratory of Biosciences, Centro Integral Oncológico Clara Campal, Department of Genetics, Endocrinology Division, Laboratory of Epidemiology and Population Sciences, University of São Paulo School of Medicine, São Paulo, São Paulo 05403-010, Brazil

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. Phaeochromocytoma patients initially reported to be RET Y791F-only carriers can harbour variants of other genes, e.g. VHL or SDHx , that are most probably the cause of the disease. Lesson from finding 4: Established clinical predictors and algorithms should be

Article Type:
Research Article
DOI:
https://doi.org/10.1530/ERC-14-0491
Volume/Issue:
Volume 22: Issue 1
Open access
Erwan Thouënnon
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Alice Pierre
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Yannick Tanguy
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Johann Guillemot
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Destiny-Love Manecka
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Marlène Guérin
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L'houcine Ouafik INSERM, INSERM, Endocrinology Unit, Department of Endocrinology, Department of Endocrinology, Hypertension Unit, U982, Laboratory of Neuronal and Neuroendocrine Differentiation and Communication (DC2N), IFRMP23, University of Rouen, 76821 Mont-Saint-Aignan, France

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Mihaela Muresan INSERM, INSERM, Endocrinology Unit, Department of Endocrinology, Department of Endocrinology, Hypertension Unit, U982, Laboratory of Neuronal and Neuroendocrine Differentiation and Communication (DC2N), IFRMP23, University of Rouen, 76821 Mont-Saint-Aignan, France

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Marc Klein INSERM, INSERM, Endocrinology Unit, Department of Endocrinology, Department of Endocrinology, Hypertension Unit, U982, Laboratory of Neuronal and Neuroendocrine Differentiation and Communication (DC2N), IFRMP23, University of Rouen, 76821 Mont-Saint-Aignan, France

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Jérôme Bertherat INSERM, INSERM, Endocrinology Unit, Department of Endocrinology, Department of Endocrinology, Hypertension Unit, U982, Laboratory of Neuronal and Neuroendocrine Differentiation and Communication (DC2N), IFRMP23, University of Rouen, 76821 Mont-Saint-Aignan, France

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Hervé Lefebvre
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Pierre-François Plouin INSERM, INSERM, Endocrinology Unit, Department of Endocrinology, Department of Endocrinology, Hypertension Unit, U982, Laboratory of Neuronal and Neuroendocrine Differentiation and Communication (DC2N), IFRMP23, University of Rouen, 76821 Mont-Saint-Aignan, France

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Laurent Yon
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Youssef Anouar
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Endocrinology and Metabolism 92 4865 – 4872 . Timmers H Gimenez-Roqueplo AP Mannelli M Pacak K 2009 Clinical aspects of SDHx-related pheochromocytoma and paraganglioma . Endocrine-Related Cancer 16 391 – 400 . Turquier V Yon L Grumolato

Article Type:
Research Article
DOI:
https://doi.org/10.1677/ERC-10-0109
Volume/Issue:
Volume 17: Issue 3
Free access
Giulia Vocino Trucco Pathology Unit, SS. Annunziata Hospital, Savigliano, Italy

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Marco Volante Department of Oncology, University of Turin, Orbassano, Turin, Italy

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immunohistochemistry may be used also as a complement to genetic testing. For example, in paragangliomas, loss of SDHB expression serves as a surrogate biomarker for SDHx alterations (such as germline mutations in SDHA , SDHB , SDHC , SDHD , and SDHAF2

Article Type:
Review Article
DOI:
https://doi.org/10.1530/ERC-24-0004
Volume/Issue:
Volume 31: Issue 8
Restricted access
Fredrika Svahn Department of Oncology-Pathology, Karolinska Institutet, Stockholm, Sweden

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Karolina Solhusløkk Höse Department of Oncology-Pathology, Karolinska Institutet, Stockholm, Sweden

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Adam Stenman Department of Oncology-Pathology, Karolinska Institutet, Stockholm, Sweden
Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden
Department of Breast, Endocrine Tumors and Sarcoma, Karolinska University Hospital, Stockholm, Sweden

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Yaxuan Liu Department of Oncology-Pathology, Karolinska Institutet, Stockholm, Sweden
Department of Breast Surgery, Obstetrics and Gynecology Hospital of Fudan University, Shanghai, China

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Jan Calissendorff Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden

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Emma Tham Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden
Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden

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Ákos Végvári Division of Chemistry I, Department of Medical Biochemistry and Biophysics, Karolinska Institutet, Stockholm, Sweden

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Roman A Zubarev Division of Chemistry I, Department of Medical Biochemistry and Biophysics, Karolinska Institutet, Stockholm, Sweden

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Na Wang Department of Oncology-Pathology, Karolinska Institutet, Stockholm, Sweden
Department of Medicine Huddinge, Karolinska Institutet, Huddinge, Sweden

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Reju Korah Yale Endocrine Neoplasia Laboratory, Department of Surgery, Yale School of Medicine, New Haven, Connecticut, USA

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Tobias Carling Yale Endocrine Neoplasia Laboratory, Department of Surgery, Yale School of Medicine, New Haven, Connecticut, USA
Carling Adrenal Center, Tampa, Florida, USA

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Jan Zedenius Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden
Department of Breast, Endocrine Tumors and Sarcoma, Karolinska University Hospital, Stockholm, Sweden

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Robert Bränström Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden
Department of Breast, Endocrine Tumors and Sarcoma, Karolinska University Hospital, Stockholm, Sweden

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C Christofer Juhlin Department of Oncology-Pathology, Karolinska Institutet, Stockholm, Sweden
Department of Clinical Pathology and Cancer Diagnostics, Karolinska University Hospital Stockholm, Sweden

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Catharina Larsson Department of Oncology-Pathology, Karolinska Institutet, Stockholm, Sweden

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status and/or mRNA expression profile, tumors were assigned as cluster 1 ( SDHx , VHL , EPAS1, and EGLN1 ) or cluster 2 ( RET , NF1 , TMEM127 , MAX , and HRAS ). Fresh frozen tumor tissue samples were collected from the local Biobank for all 97

Article Type:
Research Article
DOI:
https://doi.org/10.1530/ERC-23-0061
Volume/Issue:
Volume 31: Issue 9
Open access
Anna Angelousi Department of Pathophysiology, Sector of Endocrinology, National & Kapodistrian University of Athens, Athens, Greece

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Georgios K Dimitriadis Division of Translational and Experimental Medicine, University of Warwick Medical School, Clinical Sciences Research Laboratories, Coventry, UK

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Georgios Zografos Third Department of Surgery, Athens General Hospital “Georgios Gennimatas”, Athens, Greece

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Svenja Nölting Department of Internal Medicine II, Campus Grosshadern, University-Hospital, Ludwig-Maximilians-University of Munich, Munich, Germany

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Gregory Kaltsas Department of Pathophysiology, Sector of Endocrinology, National & Kapodistrian University of Athens, Athens, Greece
Division of Translational and Experimental Medicine, University of Warwick Medical School, Clinical Sciences Research Laboratories, Coventry, UK
Department of Endocrinology, Oxford Centre for Diabetes, Endocrinology and Metabolism, Churchill Hospital, University of Oxford, Oxford, UK

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Ashley Grossman Department of Endocrinology, Oxford Centre for Diabetes, Endocrinology and Metabolism, Churchill Hospital, University of Oxford, Oxford, UK

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studies have identified two main activated molecular pathways leading to the development of these tumours: the hypoxic (cluster-1 genes), mainly involving the succinate dehydrogenase ( SDHx ) and the Von Hippel-Lindau ( VHL ) genes, and the mTOR (cluster-2

Article Type:
Review Article
DOI:
https://doi.org/10.1530/ERC-16-0542
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Volume 24: Issue 6
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Samantha Peiling Yang Endocrinology Division, Department of Medicine, National University Hospital of Singapore, Singapore, Singapore
Yong Loo Lin School of Medicine, National University of Singapore, Singapore, Singapore

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Joanne Ngeow Cancer Genetics Service, Division of Medical Oncology, National Cancer Centre, Singapore, Singapore
Oncology Academic Clinical Program, Duke-NUS Medical School, Singapore, Singapore

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Eng C 2012 Germline SDHx variants modify breast and thyroid cancer risks in Cowden and Cowden-like syndrome via FAD/NAD-dependant destabilization of p53 . Human Molecular Genetics 21 300 – 310 . ( doi:10.1093/hmg/ddr459 ) Orloff MS He

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DOI:
https://doi.org/10.1530/ERC-16-0067
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Volume 23: Issue 12
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Jan P Dumanski Department of Immunology, Genetics and Pathology and SciLifeLab, Uppsala University, Uppsala, Sweden

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Chiara Rasi Department of Immunology, Genetics and Pathology and SciLifeLab, Uppsala University, Uppsala, Sweden

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Peyman Björklund Department of Surgical Sciences, Experimental Surgery, Uppsala University, Uppsala, Sweden

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Hanna Davies Department of Immunology, Genetics and Pathology and SciLifeLab, Uppsala University, Uppsala, Sweden

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Abir S Ali Department of Medical Sciences, Endocrine Oncology, Uppsala University, Uppsala, Sweden

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Malin Grönberg Department of Medical Sciences, Endocrine Oncology, Uppsala University, Uppsala, Sweden

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Staffan Welin Department of Medical Sciences, Endocrine Oncology, Uppsala University, Uppsala, Sweden

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Halfdan Sorbye Department of Oncology, Haukeland University Hospital, Bergen, Norway
Department of Clinical Science, University of Bergen, Bergen, Norway

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Henning Grønbæk Department of Hepatology and Gastroenterology, Aarhus University Hospital, Aarhus, Denmark

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Janet L Cunningham Department of Neuroscience, Uppsala University, Uppsala, Sweden

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Lars A Forsberg Department of Immunology, Genetics and Pathology and SciLifeLab, Uppsala University, Uppsala, Sweden

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Lars Lind Department of Medical Sciences, Uppsala University, Uppsala, Sweden

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Erik Ingelsson Division of Cardiovascular Medicine, Department of Medicine, Stanford University, San Francisco, California, USA

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Peter Stålberg Department of Surgical Sciences, Endocrine Surgery, Uppsala University, Uppsala, Sweden

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Per Hellman Department of Surgical Sciences, Endocrine Surgery, Uppsala University, Uppsala, Sweden

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Eva Tiensuu Janson Department of Medical Sciences, Endocrine Oncology, Uppsala University, Uppsala, Sweden

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are not enriched in frequency among all SI-NET patients, when compared to the control population. Furthermore, mutations in the SDHx genes have previously been implicated in cancer, and particularly, in forms related to SI-NETs, such as

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https://doi.org/10.1530/ERC-17-0196
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Volume 24: Issue 8
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Camilo Jimenez Department of Endocrine Neoplasia and Hormonal Disorders, The University of Texas MD Anderson Cancer Center, Houston, Texas, USA

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Sasan Fazeli Department of Endocrine Neoplasia and Hormonal Disorders, The University of Texas MD Anderson Cancer Center, Houston, Texas, USA

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Alejandro Román-Gonzalez Department of Endocrinology and Diabetes, Universidad de Antioquia, Medellin, Colombia
Department of Endocrinology, Hospital Universitario San Vicente Fundacion, Medellin, Colombia

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mTORC1 complex is significantly overactivated in SDHX-mutated paragangliomas . Neuroendocrinology 105 384 – 393 . ( https://doi.org/10.1159/000455864 ) Parikh PP Rubio GA Farra JC Lew JI 2017 Nationwide review of hormonally active

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https://doi.org/10.1530/ERC-20-0043
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Volume 27: Issue 7
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