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Tobias Else
Tobias Else
Metabolism, Endocrinology and Diabetes, Department of Internal Medicine, University of Michigan, 2560E MSRB2, 1150 West Medical Center Drive, Ann Arbor, Michigan 48109‐5674, USA
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. This represents a clinical link to other often genetic conditions, such as cyanotic congenital heart disease, and a biological link, as there is a close connection between hypoxia-like signaling changes caused by genetic mutations in VHL - and SDHx
Samuel M O’Toole
Samuel M O’Toole
William Harvey Research Institute, Barts and the London School of Medicine, Queen Mary University of London, London, UK
Department of Endocrinology, St Bartholomew’s Hospital, Barts Health NHS Trust, London, UK
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Department of Endocrinology, St Bartholomew’s Hospital, Barts Health NHS Trust, London, UK
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David S Watson
David S Watson
William Harvey Research Institute, Barts and the London School of Medicine, Queen Mary University of London, London, UK
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Tatiana V Novoselova
Tatiana V Novoselova
William Harvey Research Institute, Barts and the London School of Medicine, Queen Mary University of London, London, UK
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Lisa E L Romano
Lisa E L Romano
William Harvey Research Institute, Barts and the London School of Medicine, Queen Mary University of London, London, UK
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Peter J King
Peter J King
William Harvey Research Institute, Barts and the London School of Medicine, Queen Mary University of London, London, UK
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Teisha Y Bradshaw
Teisha Y Bradshaw
William Harvey Research Institute, Barts and the London School of Medicine, Queen Mary University of London, London, UK
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Clare L Thompson
Clare L Thompson
Institute of Bioengineering and School of Engineering and Material Sciences, Queen Mary University of London, London, UK
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Martin M Knight
Martin M Knight
Institute of Bioengineering and School of Engineering and Material Sciences, Queen Mary University of London, London, UK
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Tyson V Sharp
Tyson V Sharp
Barts Cancer Institute, Queen Mary University of London, London, UK
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Michael R Barnes
Michael R Barnes
William Harvey Research Institute, Barts and the London School of Medicine, Queen Mary University of London, London, UK
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Umasuthan Srirangalingam
Umasuthan Srirangalingam
William Harvey Research Institute, Barts and the London School of Medicine, Queen Mary University of London, London, UK
Department of Endocrinology, St Bartholomew’s Hospital, Barts Health NHS Trust, London, UK
Department of Diabetes and Endocrinology, University College London Hospital, London, UK
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Department of Endocrinology, St Bartholomew’s Hospital, Barts Health NHS Trust, London, UK
Department of Diabetes and Endocrinology, University College London Hospital, London, UK
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William M Drake
William M Drake
Department of Endocrinology, St Bartholomew’s Hospital, Barts Health NHS Trust, London, UK
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J Paul Chapple
J Paul Chapple
William Harvey Research Institute, Barts and the London School of Medicine, Queen Mary University of London, London, UK
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comparing individuals with ( n = 5) and without ( n = 22) germline mutations in VHL. (G and H) Cilia incidence and length in 47 PCC/PGL comparing those with a germline mutations in VHL ( n = 9), to tumors from patients with germline mutations in SDHx
James F Powers
James F Powers
Department of Pathology and Laboratory Medicine, Tufts Medical Center, Tufts University School of Medicine, Boston, Massachusetts, USA
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Brent Cochran
Brent Cochran
Department of Developmental, Molecular and Chemical Biology, Tufts University School of Medicine, Boston, Massachusetts, USA
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James D Baleja
James D Baleja
Department of Developmental, Molecular and Chemical Biology, Tufts University School of Medicine, Boston, Massachusetts, USA
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Hadley D Sikes
Hadley D Sikes
Department of Chemical Engineering, Massachusetts Institute of Technology, Cambridge, Massachusetts, USA
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Xue Zhang
Xue Zhang
Department of Developmental, Molecular and Chemical Biology, Tufts University School of Medicine, Boston, Massachusetts, USA
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Inna Lomakin
Inna Lomakin
Department of Pathology and Laboratory Medicine, Tufts Medical Center, Tufts University School of Medicine, Boston, Massachusetts, USA
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Troy Langford
Troy Langford
Department of Chemical Engineering, Massachusetts Institute of Technology, Cambridge, Massachusetts, USA
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Kassi Taylor Stein
Kassi Taylor Stein
Department of Chemical Engineering, Massachusetts Institute of Technology, Cambridge, Massachusetts, USA
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Arthur S Tischler
Arthur S Tischler
Department of Pathology and Laboratory Medicine, Tufts Medical Center, Tufts University School of Medicine, Boston, Massachusetts, USA
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). In addition, SDHx -mutated paragangliomas are reported to show high levels of markers associated with oxidative stress ( Fliedner et al. 2012 ), which has been proposed as both a driver and inhibitor of tumor progression in other tumor types ( Pani
Raquel G Martins
Raquel G Martins
IPATIMUP (Institute of Pathology and Molecular Immunology of the University of Porto), Medical Faculty of the University of Porto, Department of Endocrinology, Department of Pathology, Department of Pathology, Rua Dr Roberto Frias s/n, 4200-465, Porto, Portugal
IPATIMUP (Institute of Pathology and Molecular Immunology of the University of Porto), Medical Faculty of the University of Porto, Department of Endocrinology, Department of Pathology, Department of Pathology, Rua Dr Roberto Frias s/n, 4200-465, Porto, Portugal
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IPATIMUP (Institute of Pathology and Molecular Immunology of the University of Porto), Medical Faculty of the University of Porto, Department of Endocrinology, Department of Pathology, Department of Pathology, Rua Dr Roberto Frias s/n, 4200-465, Porto, Portugal
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Joana B Nunes
Joana B Nunes
IPATIMUP (Institute of Pathology and Molecular Immunology of the University of Porto), Medical Faculty of the University of Porto, Department of Endocrinology, Department of Pathology, Department of Pathology, Rua Dr Roberto Frias s/n, 4200-465, Porto, Portugal
IPATIMUP (Institute of Pathology and Molecular Immunology of the University of Porto), Medical Faculty of the University of Porto, Department of Endocrinology, Department of Pathology, Department of Pathology, Rua Dr Roberto Frias s/n, 4200-465, Porto, Portugal
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IPATIMUP (Institute of Pathology and Molecular Immunology of the University of Porto), Medical Faculty of the University of Porto, Department of Endocrinology, Department of Pathology, Department of Pathology, Rua Dr Roberto Frias s/n, 4200-465, Porto, Portugal
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Valdemar Máximo
Valdemar Máximo
IPATIMUP (Institute of Pathology and Molecular Immunology of the University of Porto), Medical Faculty of the University of Porto, Department of Endocrinology, Department of Pathology, Department of Pathology, Rua Dr Roberto Frias s/n, 4200-465, Porto, Portugal
IPATIMUP (Institute of Pathology and Molecular Immunology of the University of Porto), Medical Faculty of the University of Porto, Department of Endocrinology, Department of Pathology, Department of Pathology, Rua Dr Roberto Frias s/n, 4200-465, Porto, Portugal
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IPATIMUP (Institute of Pathology and Molecular Immunology of the University of Porto), Medical Faculty of the University of Porto, Department of Endocrinology, Department of Pathology, Department of Pathology, Rua Dr Roberto Frias s/n, 4200-465, Porto, Portugal
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Paula Soares
Paula Soares
IPATIMUP (Institute of Pathology and Molecular Immunology of the University of Porto), Medical Faculty of the University of Porto, Department of Endocrinology, Department of Pathology, Department of Pathology, Rua Dr Roberto Frias s/n, 4200-465, Porto, Portugal
IPATIMUP (Institute of Pathology and Molecular Immunology of the University of Porto), Medical Faculty of the University of Porto, Department of Endocrinology, Department of Pathology, Department of Pathology, Rua Dr Roberto Frias s/n, 4200-465, Porto, Portugal
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IPATIMUP (Institute of Pathology and Molecular Immunology of the University of Porto), Medical Faculty of the University of Porto, Department of Endocrinology, Department of Pathology, Department of Pathology, Rua Dr Roberto Frias s/n, 4200-465, Porto, Portugal
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Joana Peixoto
Joana Peixoto
IPATIMUP (Institute of Pathology and Molecular Immunology of the University of Porto), Medical Faculty of the University of Porto, Department of Endocrinology, Department of Pathology, Department of Pathology, Rua Dr Roberto Frias s/n, 4200-465, Porto, Portugal
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Telmo Catarino
Telmo Catarino
IPATIMUP (Institute of Pathology and Molecular Immunology of the University of Porto), Medical Faculty of the University of Porto, Department of Endocrinology, Department of Pathology, Department of Pathology, Rua Dr Roberto Frias s/n, 4200-465, Porto, Portugal
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Teresa Rito
Teresa Rito
IPATIMUP (Institute of Pathology and Molecular Immunology of the University of Porto), Medical Faculty of the University of Porto, Department of Endocrinology, Department of Pathology, Department of Pathology, Rua Dr Roberto Frias s/n, 4200-465, Porto, Portugal
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Pedro Soares
Pedro Soares
IPATIMUP (Institute of Pathology and Molecular Immunology of the University of Porto), Medical Faculty of the University of Porto, Department of Endocrinology, Department of Pathology, Department of Pathology, Rua Dr Roberto Frias s/n, 4200-465, Porto, Portugal
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Luísa Pereira
Luísa Pereira
IPATIMUP (Institute of Pathology and Molecular Immunology of the University of Porto), Medical Faculty of the University of Porto, Department of Endocrinology, Department of Pathology, Department of Pathology, Rua Dr Roberto Frias s/n, 4200-465, Porto, Portugal
IPATIMUP (Institute of Pathology and Molecular Immunology of the University of Porto), Medical Faculty of the University of Porto, Department of Endocrinology, Department of Pathology, Department of Pathology, Rua Dr Roberto Frias s/n, 4200-465, Porto, Portugal
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IPATIMUP (Institute of Pathology and Molecular Immunology of the University of Porto), Medical Faculty of the University of Porto, Department of Endocrinology, Department of Pathology, Department of Pathology, Rua Dr Roberto Frias s/n, 4200-465, Porto, Portugal
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Manuel Sobrinho-Simões
Manuel Sobrinho-Simões
IPATIMUP (Institute of Pathology and Molecular Immunology of the University of Porto), Medical Faculty of the University of Porto, Department of Endocrinology, Department of Pathology, Department of Pathology, Rua Dr Roberto Frias s/n, 4200-465, Porto, Portugal
IPATIMUP (Institute of Pathology and Molecular Immunology of the University of Porto), Medical Faculty of the University of Porto, Department of Endocrinology, Department of Pathology, Department of Pathology, Rua Dr Roberto Frias s/n, 4200-465, Porto, Portugal
IPATIMUP (Institute of Pathology and Molecular Immunology of the University of Porto), Medical Faculty of the University of Porto, Department of Endocrinology, Department of Pathology, Department of Pathology, Rua Dr Roberto Frias s/n, 4200-465, Porto, Portugal
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IPATIMUP (Institute of Pathology and Molecular Immunology of the University of Porto), Medical Faculty of the University of Porto, Department of Endocrinology, Department of Pathology, Department of Pathology, Rua Dr Roberto Frias s/n, 4200-465, Porto, Portugal
IPATIMUP (Institute of Pathology and Molecular Immunology of the University of Porto), Medical Faculty of the University of Porto, Department of Endocrinology, Department of Pathology, Department of Pathology, Rua Dr Roberto Frias s/n, 4200-465, Porto, Portugal
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Ana Paula Santos
Ana Paula Santos
IPATIMUP (Institute of Pathology and Molecular Immunology of the University of Porto), Medical Faculty of the University of Porto, Department of Endocrinology, Department of Pathology, Department of Pathology, Rua Dr Roberto Frias s/n, 4200-465, Porto, Portugal
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Joana Couto
Joana Couto
IPATIMUP (Institute of Pathology and Molecular Immunology of the University of Porto), Medical Faculty of the University of Porto, Department of Endocrinology, Department of Pathology, Department of Pathology, Rua Dr Roberto Frias s/n, 4200-465, Porto, Portugal
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Rui Henrique
Rui Henrique
IPATIMUP (Institute of Pathology and Molecular Immunology of the University of Porto), Medical Faculty of the University of Porto, Department of Endocrinology, Department of Pathology, Department of Pathology, Rua Dr Roberto Frias s/n, 4200-465, Porto, Portugal
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Joana Matos-Loureiro
Joana Matos-Loureiro
IPATIMUP (Institute of Pathology and Molecular Immunology of the University of Porto), Medical Faculty of the University of Porto, Department of Endocrinology, Department of Pathology, Department of Pathology, Rua Dr Roberto Frias s/n, 4200-465, Porto, Portugal
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Paula Dias
Paula Dias
IPATIMUP (Institute of Pathology and Molecular Immunology of the University of Porto), Medical Faculty of the University of Porto, Department of Endocrinology, Department of Pathology, Department of Pathology, Rua Dr Roberto Frias s/n, 4200-465, Porto, Portugal
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Isabel Torres
Isabel Torres
IPATIMUP (Institute of Pathology and Molecular Immunology of the University of Porto), Medical Faculty of the University of Porto, Department of Endocrinology, Department of Pathology, Department of Pathology, Rua Dr Roberto Frias s/n, 4200-465, Porto, Portugal
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Jorge Lima
Jorge Lima
IPATIMUP (Institute of Pathology and Molecular Immunology of the University of Porto), Medical Faculty of the University of Porto, Department of Endocrinology, Department of Pathology, Department of Pathology, Rua Dr Roberto Frias s/n, 4200-465, Porto, Portugal
IPATIMUP (Institute of Pathology and Molecular Immunology of the University of Porto), Medical Faculty of the University of Porto, Department of Endocrinology, Department of Pathology, Department of Pathology, Rua Dr Roberto Frias s/n, 4200-465, Porto, Portugal
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IPATIMUP (Institute of Pathology and Molecular Immunology of the University of Porto), Medical Faculty of the University of Porto, Department of Endocrinology, Department of Pathology, Department of Pathology, Rua Dr Roberto Frias s/n, 4200-465, Porto, Portugal
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Dear Editor We would like to report a genetic screening of SDHB , SDHC , SDHD and SDHAF2 genes (hereafter abbreviated to SDHx ) in patients with paragangliomas (PGL) and phaeochromocytomas (PCC) from northern Portugal. PGL and PCC are
Anne-Paule Gimenez-Roqueplo
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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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
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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Biomedical Research Networking Centre on Rare Diseases (CIBERER), Institute of Health Carlos III, Madrid, Spain
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Patricia L M Dahia
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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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
L Fishbein
L Fishbein
Division of Endocrinology, Metabolism and Diabetes and Division of Biomedical Informatics and Personalized Medicine, Department of Medicine, University of Colorado School of Medicine, University of Colorado Cancer Center, Aurora, Colorado, USA
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S Ben-Maimon
S Ben-Maimon
Department of Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA
Renal and Hypertension Division, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA
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Renal and Hypertension Division, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA
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S Keefe
S Keefe
Department of Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA
Division of Medical Oncology and Hematology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA
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Division of Medical Oncology and Hematology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA
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K Cengel
K Cengel
Department of Radiation Oncology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA
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D A Pryma
D A Pryma
Department of Radiology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA
Division of Nuclear Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA
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Division of Nuclear Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA
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A Loaiza-Bonilla
A Loaiza-Bonilla
Department of Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA
Division of Medical Oncology and Hematology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA
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Division of Medical Oncology and Hematology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA
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D L Fraker
D L Fraker
Department of Surgery, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA
Division of Endocrine Oncologic Surgery, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA
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Division of Endocrine Oncologic Surgery, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA
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K L Nathanson
K L Nathanson
Department of Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA
Division of Translational Medicine and Human Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA
Abramson Cancer Center, University of Pennsylvania, Philadelphia, Pennsylvania, USA
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Division of Translational Medicine and Human Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA
Abramson Cancer Center, University of Pennsylvania, Philadelphia, Pennsylvania, USA
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D L Cohen
D L Cohen
Department of Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA
Renal and Hypertension Division, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA
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Renal and Hypertension Division, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA
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–44.77) and did not differ based on SDHx mutation status ( SDHx carriers 6.80 years vs other 6.39 years; P = 0.8632) or SDHB mutation status ( SDHB carriers 5.99 years vs other 7.38 years; P = 0.5535). The presence of any SDHx mutation was
Eva Szarek
Eva Szarek
Section on Endocrinology and Genetics (SEGEN), Department of Biophysics and Nuclear Medicine, Faculty of Medicine, Laboratory of Pathology, Section on Medical Neuroendocrinology (SMN), Section of Immunopathology and Laboratory of Immunology, Department of Nuclear Medicine, Institut Paoli‐Calmettes, Emeritus Staff Center, Program on Developmental Endocrinology and Genetics (PDEGEN), Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), Building 10, CRC, Room 1‐3330, 10 Center Drive, MSC1103, Bethesda, Maryland 20892, USA
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Evan R Ball
Evan R Ball
Section on Endocrinology and Genetics (SEGEN), Department of Biophysics and Nuclear Medicine, Faculty of Medicine, Laboratory of Pathology, Section on Medical Neuroendocrinology (SMN), Section of Immunopathology and Laboratory of Immunology, Department of Nuclear Medicine, Institut Paoli‐Calmettes, Emeritus Staff Center, Program on Developmental Endocrinology and Genetics (PDEGEN), Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), Building 10, CRC, Room 1‐3330, 10 Center Drive, MSC1103, Bethesda, Maryland 20892, USA
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Alessio Imperiale
Alessio Imperiale
Section on Endocrinology and Genetics (SEGEN), Department of Biophysics and Nuclear Medicine, Faculty of Medicine, Laboratory of Pathology, Section on Medical Neuroendocrinology (SMN), Section of Immunopathology and Laboratory of Immunology, Department of Nuclear Medicine, Institut Paoli‐Calmettes, Emeritus Staff Center, Program on Developmental Endocrinology and Genetics (PDEGEN), Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), Building 10, CRC, Room 1‐3330, 10 Center Drive, MSC1103, Bethesda, Maryland 20892, USA
Section on Endocrinology and Genetics (SEGEN), Department of Biophysics and Nuclear Medicine, Faculty of Medicine, Laboratory of Pathology, Section on Medical Neuroendocrinology (SMN), Section of Immunopathology and Laboratory of Immunology, Department of Nuclear Medicine, Institut Paoli‐Calmettes, Emeritus Staff Center, Program on Developmental Endocrinology and Genetics (PDEGEN), Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), Building 10, CRC, Room 1‐3330, 10 Center Drive, MSC1103, Bethesda, Maryland 20892, USA
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Section on Endocrinology and Genetics (SEGEN), Department of Biophysics and Nuclear Medicine, Faculty of Medicine, Laboratory of Pathology, Section on Medical Neuroendocrinology (SMN), Section of Immunopathology and Laboratory of Immunology, Department of Nuclear Medicine, Institut Paoli‐Calmettes, Emeritus Staff Center, Program on Developmental Endocrinology and Genetics (PDEGEN), Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), Building 10, CRC, Room 1‐3330, 10 Center Drive, MSC1103, Bethesda, Maryland 20892, USA
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Maria Tsokos
Maria Tsokos
Section on Endocrinology and Genetics (SEGEN), Department of Biophysics and Nuclear Medicine, Faculty of Medicine, Laboratory of Pathology, Section on Medical Neuroendocrinology (SMN), Section of Immunopathology and Laboratory of Immunology, Department of Nuclear Medicine, Institut Paoli‐Calmettes, Emeritus Staff Center, Program on Developmental Endocrinology and Genetics (PDEGEN), Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), Building 10, CRC, Room 1‐3330, 10 Center Drive, MSC1103, Bethesda, Maryland 20892, USA
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Fabio R Faucz
Fabio R Faucz
Section on Endocrinology and Genetics (SEGEN), Department of Biophysics and Nuclear Medicine, Faculty of Medicine, Laboratory of Pathology, Section on Medical Neuroendocrinology (SMN), Section of Immunopathology and Laboratory of Immunology, Department of Nuclear Medicine, Institut Paoli‐Calmettes, Emeritus Staff Center, Program on Developmental Endocrinology and Genetics (PDEGEN), Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), Building 10, CRC, Room 1‐3330, 10 Center Drive, MSC1103, Bethesda, Maryland 20892, USA
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Alessio Giubellino
Alessio Giubellino
Section on Endocrinology and Genetics (SEGEN), Department of Biophysics and Nuclear Medicine, Faculty of Medicine, Laboratory of Pathology, Section on Medical Neuroendocrinology (SMN), Section of Immunopathology and Laboratory of Immunology, Department of Nuclear Medicine, Institut Paoli‐Calmettes, Emeritus Staff Center, Program on Developmental Endocrinology and Genetics (PDEGEN), Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), Building 10, CRC, Room 1‐3330, 10 Center Drive, MSC1103, Bethesda, Maryland 20892, USA
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François-Marie Moussallieh
François-Marie Moussallieh
Section on Endocrinology and Genetics (SEGEN), Department of Biophysics and Nuclear Medicine, Faculty of Medicine, Laboratory of Pathology, Section on Medical Neuroendocrinology (SMN), Section of Immunopathology and Laboratory of Immunology, Department of Nuclear Medicine, Institut Paoli‐Calmettes, Emeritus Staff Center, Program on Developmental Endocrinology and Genetics (PDEGEN), Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), Building 10, CRC, Room 1‐3330, 10 Center Drive, MSC1103, Bethesda, Maryland 20892, USA
Section on Endocrinology and Genetics (SEGEN), Department of Biophysics and Nuclear Medicine, Faculty of Medicine, Laboratory of Pathology, Section on Medical Neuroendocrinology (SMN), Section of Immunopathology and Laboratory of Immunology, Department of Nuclear Medicine, Institut Paoli‐Calmettes, Emeritus Staff Center, Program on Developmental Endocrinology and Genetics (PDEGEN), Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), Building 10, CRC, Room 1‐3330, 10 Center Drive, MSC1103, Bethesda, Maryland 20892, USA
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Section on Endocrinology and Genetics (SEGEN), Department of Biophysics and Nuclear Medicine, Faculty of Medicine, Laboratory of Pathology, Section on Medical Neuroendocrinology (SMN), Section of Immunopathology and Laboratory of Immunology, Department of Nuclear Medicine, Institut Paoli‐Calmettes, Emeritus Staff Center, Program on Developmental Endocrinology and Genetics (PDEGEN), Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), Building 10, CRC, Room 1‐3330, 10 Center Drive, MSC1103, Bethesda, Maryland 20892, USA
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Izzie-Jacques Namer
Izzie-Jacques Namer
Section on Endocrinology and Genetics (SEGEN), Department of Biophysics and Nuclear Medicine, Faculty of Medicine, Laboratory of Pathology, Section on Medical Neuroendocrinology (SMN), Section of Immunopathology and Laboratory of Immunology, Department of Nuclear Medicine, Institut Paoli‐Calmettes, Emeritus Staff Center, Program on Developmental Endocrinology and Genetics (PDEGEN), Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), Building 10, CRC, Room 1‐3330, 10 Center Drive, MSC1103, Bethesda, Maryland 20892, USA
Section on Endocrinology and Genetics (SEGEN), Department of Biophysics and Nuclear Medicine, Faculty of Medicine, Laboratory of Pathology, Section on Medical Neuroendocrinology (SMN), Section of Immunopathology and Laboratory of Immunology, Department of Nuclear Medicine, Institut Paoli‐Calmettes, Emeritus Staff Center, Program on Developmental Endocrinology and Genetics (PDEGEN), Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), Building 10, CRC, Room 1‐3330, 10 Center Drive, MSC1103, Bethesda, Maryland 20892, USA
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Section on Endocrinology and Genetics (SEGEN), Department of Biophysics and Nuclear Medicine, Faculty of Medicine, Laboratory of Pathology, Section on Medical Neuroendocrinology (SMN), Section of Immunopathology and Laboratory of Immunology, Department of Nuclear Medicine, Institut Paoli‐Calmettes, Emeritus Staff Center, Program on Developmental Endocrinology and Genetics (PDEGEN), Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), Building 10, CRC, Room 1‐3330, 10 Center Drive, MSC1103, Bethesda, Maryland 20892, USA
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Mones S Abu-Asab
Mones S Abu-Asab
Section on Endocrinology and Genetics (SEGEN), Department of Biophysics and Nuclear Medicine, Faculty of Medicine, Laboratory of Pathology, Section on Medical Neuroendocrinology (SMN), Section of Immunopathology and Laboratory of Immunology, Department of Nuclear Medicine, Institut Paoli‐Calmettes, Emeritus Staff Center, Program on Developmental Endocrinology and Genetics (PDEGEN), Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), Building 10, CRC, Room 1‐3330, 10 Center Drive, MSC1103, Bethesda, Maryland 20892, USA
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Karel Pacak
Karel Pacak
Section on Endocrinology and Genetics (SEGEN), Department of Biophysics and Nuclear Medicine, Faculty of Medicine, Laboratory of Pathology, Section on Medical Neuroendocrinology (SMN), Section of Immunopathology and Laboratory of Immunology, Department of Nuclear Medicine, Institut Paoli‐Calmettes, Emeritus Staff Center, Program on Developmental Endocrinology and Genetics (PDEGEN), Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), Building 10, CRC, Room 1‐3330, 10 Center Drive, MSC1103, Bethesda, Maryland 20892, USA
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David Taïeb
David Taïeb
Section on Endocrinology and Genetics (SEGEN), Department of Biophysics and Nuclear Medicine, Faculty of Medicine, Laboratory of Pathology, Section on Medical Neuroendocrinology (SMN), Section of Immunopathology and Laboratory of Immunology, Department of Nuclear Medicine, Institut Paoli‐Calmettes, Emeritus Staff Center, Program on Developmental Endocrinology and Genetics (PDEGEN), Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), Building 10, CRC, Room 1‐3330, 10 Center Drive, MSC1103, Bethesda, Maryland 20892, USA
Section on Endocrinology and Genetics (SEGEN), Department of Biophysics and Nuclear Medicine, Faculty of Medicine, Laboratory of Pathology, Section on Medical Neuroendocrinology (SMN), Section of Immunopathology and Laboratory of Immunology, Department of Nuclear Medicine, Institut Paoli‐Calmettes, Emeritus Staff Center, Program on Developmental Endocrinology and Genetics (PDEGEN), Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), Building 10, CRC, Room 1‐3330, 10 Center Drive, MSC1103, Bethesda, Maryland 20892, USA
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Section on Endocrinology and Genetics (SEGEN), Department of Biophysics and Nuclear Medicine, Faculty of Medicine, Laboratory of Pathology, Section on Medical Neuroendocrinology (SMN), Section of Immunopathology and Laboratory of Immunology, Department of Nuclear Medicine, Institut Paoli‐Calmettes, Emeritus Staff Center, Program on Developmental Endocrinology and Genetics (PDEGEN), Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), Building 10, CRC, Room 1‐3330, 10 Center Drive, MSC1103, Bethesda, Maryland 20892, USA
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J Aidan Carney
J Aidan Carney
Section on Endocrinology and Genetics (SEGEN), Department of Biophysics and Nuclear Medicine, Faculty of Medicine, Laboratory of Pathology, Section on Medical Neuroendocrinology (SMN), Section of Immunopathology and Laboratory of Immunology, Department of Nuclear Medicine, Institut Paoli‐Calmettes, Emeritus Staff Center, Program on Developmental Endocrinology and Genetics (PDEGEN), Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), Building 10, CRC, Room 1‐3330, 10 Center Drive, MSC1103, Bethesda, Maryland 20892, USA
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Constantine A Stratakis
Constantine A Stratakis
Section on Endocrinology and Genetics (SEGEN), Department of Biophysics and Nuclear Medicine, Faculty of Medicine, Laboratory of Pathology, Section on Medical Neuroendocrinology (SMN), Section of Immunopathology and Laboratory of Immunology, Department of Nuclear Medicine, Institut Paoli‐Calmettes, Emeritus Staff Center, Program on Developmental Endocrinology and Genetics (PDEGEN), Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), Building 10, CRC, Room 1‐3330, 10 Center Drive, MSC1103, Bethesda, Maryland 20892, USA
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encoded by the SDHA , SDHB, SDHC, and SDHD genes, which are collectively known as SDHx . Mutations in these genes that were known to predispose individuals to hereditary PGLs and pheochromocytomas ( Astuti et al . 2001 , Velasco et al . 2005
Jenny Welander
Jenny Welander
Department of Clinical and Experimental Medicine, Department of Surgery, Faculty of Health Sciences, Linköping University, SE-58185 Linköping, Sweden
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Peter Söderkvist
Peter Söderkvist
Department of Clinical and Experimental Medicine, Department of Surgery, Faculty of Health Sciences, Linköping University, SE-58185 Linköping, Sweden
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Oliver Gimm
Oliver Gimm
Department of Clinical and Experimental Medicine, Department of Surgery, Faculty of Health Sciences, Linköping University, SE-58185 Linköping, Sweden
Department of Clinical and Experimental Medicine, Department of Surgery, Faculty of Health Sciences, Linköping University, SE-58185 Linköping, Sweden
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Department of Clinical and Experimental Medicine, Department of Surgery, Faculty of Health Sciences, Linköping University, SE-58185 Linköping, Sweden
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mutations in any of the genes involved in hereditary pheochromocytoma have been thought to be rare in the more common sporadic form of the tumor, as has repeatedly been reported for the RET , VHL , and SDHx genes ( Burnichon et al . 2011 ). While ∼15
Frédéric Castinetti
Frédéric Castinetti
Department of Endocrinology, Department of Biophysics and Nuclear Medicine, Diagnostic Nuclear Medicine Division, Program in Reproductive and Adult Endocrinology, Department of Nuclear Medicine, Institut Paoli‐Calmettes, La Timone University Hospital, Aix‐Marseille University, Marseille, France
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Alexander Kroiss
Alexander Kroiss
Department of Endocrinology, Department of Biophysics and Nuclear Medicine, Diagnostic Nuclear Medicine Division, Program in Reproductive and Adult Endocrinology, Department of Nuclear Medicine, Institut Paoli‐Calmettes, La Timone University Hospital, Aix‐Marseille University, Marseille, France
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Rakesh Kumar
Rakesh Kumar
Department of Endocrinology, Department of Biophysics and Nuclear Medicine, Diagnostic Nuclear Medicine Division, Program in Reproductive and Adult Endocrinology, Department of Nuclear Medicine, Institut Paoli‐Calmettes, La Timone University Hospital, Aix‐Marseille University, Marseille, France
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Karel Pacak
Karel Pacak
Department of Endocrinology, Department of Biophysics and Nuclear Medicine, Diagnostic Nuclear Medicine Division, Program in Reproductive and Adult Endocrinology, Department of Nuclear Medicine, Institut Paoli‐Calmettes, La Timone University Hospital, Aix‐Marseille University, Marseille, France
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David Taieb
David Taieb
Department of Endocrinology, Department of Biophysics and Nuclear Medicine, Diagnostic Nuclear Medicine Division, Program in Reproductive and Adult Endocrinology, Department of Nuclear Medicine, Institut Paoli‐Calmettes, La Timone University Hospital, Aix‐Marseille University, Marseille, France
Department of Endocrinology, Department of Biophysics and Nuclear Medicine, Diagnostic Nuclear Medicine Division, Program in Reproductive and Adult Endocrinology, Department of Nuclear Medicine, Institut Paoli‐Calmettes, La Timone University Hospital, Aix‐Marseille University, Marseille, France
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Department of Endocrinology, Department of Biophysics and Nuclear Medicine, Diagnostic Nuclear Medicine Division, Program in Reproductive and Adult Endocrinology, Department of Nuclear Medicine, Institut Paoli‐Calmettes, La Timone University Hospital, Aix‐Marseille University, Marseille, France
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approaches for PHEOs/PGLs according to the localization and genotype Entities Associated conditions 1st choice radiopharmaceuticals 2nd choice radiopharmaceuticals PHEO MEN2 (RET), SDHx, VHL, NF1, TMEM127, MAX 18 F-FDOPA 123 I-MIBG Extraadrenal abdominal and
Massimo Mannelli
Massimo Mannelli
Endocrinology Unit, Endocrinology Unit, Division of Endocrinology, Department of Experimental and Clinical Biomedical Sciences ‘Mario Serio’, University of Florence, Viale Pieraccini 6, 50139 Florence, Italy
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Elena Rapizzi
Elena Rapizzi
Endocrinology Unit, Endocrinology Unit, Division of Endocrinology, Department of Experimental and Clinical Biomedical Sciences ‘Mario Serio’, University of Florence, Viale Pieraccini 6, 50139 Florence, Italy
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Rossella Fucci
Rossella Fucci
Endocrinology Unit, Endocrinology Unit, Division of Endocrinology, Department of Experimental and Clinical Biomedical Sciences ‘Mario Serio’, University of Florence, Viale Pieraccini 6, 50139 Florence, Italy
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Letizia Canu
Letizia Canu
Endocrinology Unit, Endocrinology Unit, Division of Endocrinology, Department of Experimental and Clinical Biomedical Sciences ‘Mario Serio’, University of Florence, Viale Pieraccini 6, 50139 Florence, Italy
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Tonino Ercolino
Tonino Ercolino
Endocrinology Unit, Endocrinology Unit, Division of Endocrinology, Department of Experimental and Clinical Biomedical Sciences ‘Mario Serio’, University of Florence, Viale Pieraccini 6, 50139 Florence, Italy
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Michaela Luconi
Michaela Luconi
Endocrinology Unit, Endocrinology Unit, Division of Endocrinology, Department of Experimental and Clinical Biomedical Sciences ‘Mario Serio’, University of Florence, Viale Pieraccini 6, 50139 Florence, Italy
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William F Young Jr
William F Young Jr
Endocrinology Unit, Endocrinology Unit, Division of Endocrinology, Department of Experimental and Clinical Biomedical Sciences ‘Mario Serio’, University of Florence, Viale Pieraccini 6, 50139 Florence, Italy
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. 2014 ). Based on gene profiling studies ( Dahia et al . 2005 , Favier et al . 2009 ), mutated as well as WT pheochromocytoma/paraganglioma can be assigned to two different ‘clusters’. Cluster 1 includes VHL , SDHx and FH mutated tumors and is
