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

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

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

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encoding the succinate dehydrogenase (SDH) complex are the most prevalent, occurring in SDHA, SDHB , SDHC, SDHD or SDHAF2 genes. Tumors carrying such mutations are classified in the pseudo-hypoxic expression cluster 1, together with tumors carrying

Article Type:
Review Article
DOI:
https://doi.org/10.1530/ERC-20-0346
Volume/Issue:
Volume 27: Issue 12
Free access
William Beimers Department of Biochemistry and Molecular Biology, Mayo Clinic College of Medicine and Science, Rochester, Minnesota, USA

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Megan Braun Department of Biochemistry and Molecular Biology, Mayo Clinic College of Medicine and Science, Rochester, Minnesota, USA

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Kaleb Schwinefus Department of Biochemistry and Molecular Biology, Mayo Clinic College of Medicine and Science, Rochester, Minnesota, USA

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Keenan Pearson Department of Biochemistry and Molecular Biology, Mayo Clinic College of Medicine and Science, Rochester, Minnesota, USA

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Brandon Wilbanks Department of Biochemistry and Molecular Biology, Mayo Clinic College of Medicine and Science, Rochester, Minnesota, USA

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Louis James Maher Department of Biochemistry and Molecular Biology, Mayo Clinic College of Medicine and Science, Rochester, Minnesota, USA

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surgery. About 25% of PGL cases are hereditary, and most hereditary PGLs are linked to pathogenic variants in nuclear genes encoding the four subunits of the tricarboxylic acid (TCA) cycle enzyme succinate dehydrogenase (SDH; also complex II of the

Article Type:
Research Article
DOI:
https://doi.org/10.1530/ERC-21-0349
Volume/Issue:
Volume 29: Issue 6
Open access
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 Department of Developmental, Molecular and Chemical Biology

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James D Baleja Department of Developmental, Molecular and Chemical Biology

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Hadley D Sikes Department of Chemical Engineering, Massachusetts Institute of Technology, Cambridge, Massachusetts, USA

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Andrew D Pattison Department of Clinical Pathology, University of Melbourne, Melbourne, Victoria, Australia

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Xue Zhang Department of Developmental, Molecular and Chemical Biology

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Inna Lomakin Department of Pathology and Laboratory Medicine, Tufts Medical Center, Tufts University School of Medicine, Boston, Massachusetts, USA

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Annette Shepard-Barry Department of Pathology and Laboratory Medicine, Tufts Medical Center, Tufts University School of Medicine, Boston, Massachusetts, USA

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

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Sun Jin Moon Department of Chemical Engineering, Massachusetts Institute of Technology, Cambridge, Massachusetts, USA

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Troy F Langford Department of Chemical Engineering, Massachusetts Institute of Technology, Cambridge, Massachusetts, USA

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Kassi Taylor Stein Department of Chemical Engineering, Massachusetts Institute of Technology, Cambridge, Massachusetts, USA

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Richard W Tothill Department of Clinical Pathology, University of Melbourne, Melbourne, Victoria, Australia
Peter MacCallum Cancer Centre, Melbourne, Victoria, Australia

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Yingbin Ouyang Cyagen US Inc, Santa Clara, California, USA

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Arthur S Tischler Department of Pathology and Laboratory Medicine, Tufts Medical Center, Tufts University School of Medicine, Boston, Massachusetts, USA

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paragangliomas (PCPGs) are hereditary, and germline mutations of at least 17 functionally diverse genes can lead to their development ( Dahia 2017 ). Mutations of genes encoding subunits of succinate dehydrogenase (SDH) account for the largest number of familial

Article Type:
Research Article
DOI:
https://doi.org/10.1530/ERC-19-0474
Volume/Issue:
Volume 27: Issue 6
Open access
V H M Tsang Cancer Genetics Laboratory, Department of Endocrinology, Department of Surgery, Department of Anatomical Pathology, Cancer Diagnosis and Oncology Group, Department of Endocrine and Oncology Surgery, Neurogenetics Research Laboratory, Department of ENT Surgery, Department of Neurology, Bill Walsh Translational Cancer Research Laboratory, Kolling Institute of Medical Research
Cancer Genetics Laboratory, Department of Endocrinology, Department of Surgery, Department of Anatomical Pathology, Cancer Diagnosis and Oncology Group, Department of Endocrine and Oncology Surgery, Neurogenetics Research Laboratory, Department of ENT Surgery, Department of Neurology, Bill Walsh Translational Cancer Research Laboratory, Kolling Institute of Medical Research

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

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

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

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

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

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

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

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

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

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

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

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

Article Type:
Research Article
DOI:
https://doi.org/10.1530/ERC-13-0519
Volume/Issue:
Volume 21: Issue 3
Free access
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 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 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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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 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 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 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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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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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 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 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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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 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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and more than half of the tumors seen in pediatric patients ( Hirota et al . 1998 , Heinrich et al . 2003 , Lasota & Miettinen 2008 , Doyle et al . 2012 ). Recently, we identified succinate dehydrogenase (SDH) deficiency, which activates

Article Type:
Research Article
DOI:
https://doi.org/10.1530/ERC-15-0069
Volume/Issue:
Volume 22: Issue 3
Free access
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 Department of Developmental, Molecular and Chemical Biology, Tufts University School of Medicine, Boston, Massachusetts, USA

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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 Department of Chemical Engineering, Massachusetts Institute of Technology, Cambridge, Massachusetts, USA

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Xue Zhang Department of Developmental, Molecular and Chemical Biology, Tufts University School of Medicine, Boston, Massachusetts, USA

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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 Department of Chemical Engineering, Massachusetts Institute of Technology, Cambridge, Massachusetts, USA

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Kassi Taylor Stein Department of Chemical Engineering, Massachusetts Institute of Technology, Cambridge, Massachusetts, USA

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Arthur S Tischler Department of Pathology and Laboratory Medicine, Tufts Medical Center, Tufts University School of Medicine, Boston, Massachusetts, USA

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Introduction SDH-deficient gastrointestinal stromal tumors (GISTs) are rare but sometimes lethal tumors that can occur in patients with paraganglioma (PGL) syndromes. These tumors do not harbor the KIT or PDGFRA mutations typical of

Article Type:
Research Article
DOI:
https://doi.org/10.1530/ERC-18-0115
Volume/Issue:
Volume 25: Issue 11
Free access
Samuel M O'Toole Department of Endocrinology, Hereditary Endocrine Cancer Group, Section on Endocrinology and Genetics, Barts and the London School of Medicine, Queen Mary University of London, London EC1M 6BQ, UK

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Judit Dénes Department of Endocrinology, Hereditary Endocrine Cancer Group, Section on Endocrinology and Genetics, Barts and the London School of Medicine, Queen Mary University of London, London EC1M 6BQ, UK

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Mercedes Robledo Department of Endocrinology, Hereditary Endocrine Cancer Group, Section on Endocrinology and Genetics, Barts and the London School of Medicine, Queen Mary University of London, London EC1M 6BQ, UK

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Constantine A Stratakis Department of Endocrinology, Hereditary Endocrine Cancer Group, Section on Endocrinology and Genetics, Barts and the London School of Medicine, Queen Mary University of London, London EC1M 6BQ, UK

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Márta Korbonits Department of Endocrinology, Hereditary Endocrine Cancer Group, Section on Endocrinology and Genetics, Barts and the London School of Medicine, Queen Mary University of London, London EC1M 6BQ, UK

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/PGL-predisposing genes Succinate dehydrogenase The succinate dehydrogenase (SDH) complex consists of four subunits A, B, C and D. The hydrophilic A and B subunits form the catalytic core of the enzyme and contain the substrate binding site for succinate whilst the

Article Type:
Review Article
DOI:
https://doi.org/10.1530/ERC-15-0241
Volume/Issue:
Volume 22: Issue 4
Free access
Paul Benjamin Loughrey Patrick G Johnston Centre for Cancer Research, Queen’s University, Belfast, UK
Regional Centre for Endocrinology and Diabetes, Royal Victoria Hospital, Belfast Health & Social Care Trust, Belfast, UK

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Federico Roncaroli Geoffrey Jefferson Brain Research Centre, Division of Neuroscience and Experimental Psychology, School of Medicine, Manchester University, Manchester, UK

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Estelle Healy Department of Cellular Pathology, Royal Victoria Hospital, Belfast Health & Social Care Trust, Belfast, UK

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Philip Weir Department of Neurosurgery, Royal Victoria Hospital, Belfast Health & Social Care Trust, Belfast, UK

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Madhu Basetti Cancer Research UK Cambridge Institute, Li Ka Shing Centre, University of Cambridge, Cambridge, UK

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Ruth T Casey Department of Endocrinology, Cambridge University Hospital NHS Foundation Trust, Cambridge, UK

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Steven J Hunter Regional Centre for Endocrinology and Diabetes, Royal Victoria Hospital, Belfast Health & Social Care Trust, Belfast, UK

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Márta Korbonits Centre for Endocrinology, William Harvey Research Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London, UK

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

Article Type:
Review Article
Collections:
Advances and Future Directions in Pheochromocytoma and Paraganglioma
DOI:
https://doi.org/10.1530/ERC-22-0157
Volume/Issue:
Volume 29: Issue 10
Open access
E Rapizzi Endocrinology Unit, Endocrinology Unit, Vascular Surgery Unit, Chirurgia Generale, Istituto Toscano Tumori, Department of Clinical Pathophysiology, University of Florence, Viale Pieraccini 6, 50139 Florence, Italy

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T Ercolino Endocrinology Unit, Endocrinology Unit, Vascular Surgery Unit, Chirurgia Generale, Istituto Toscano Tumori, Department of Clinical Pathophysiology, University of Florence, Viale Pieraccini 6, 50139 Florence, Italy

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L Canu Endocrinology Unit, Endocrinology Unit, Vascular Surgery Unit, Chirurgia Generale, Istituto Toscano Tumori, Department of Clinical Pathophysiology, University of Florence, Viale Pieraccini 6, 50139 Florence, Italy

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V Giaché Endocrinology Unit, Endocrinology Unit, Vascular Surgery Unit, Chirurgia Generale, Istituto Toscano Tumori, Department of Clinical Pathophysiology, University of Florence, Viale Pieraccini 6, 50139 Florence, Italy

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M Francalanci Endocrinology Unit, Endocrinology Unit, Vascular Surgery Unit, Chirurgia Generale, Istituto Toscano Tumori, Department of Clinical Pathophysiology, University of Florence, Viale Pieraccini 6, 50139 Florence, Italy

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C Pratesi Endocrinology Unit, Endocrinology Unit, Vascular Surgery Unit, Chirurgia Generale, Istituto Toscano Tumori, Department of Clinical Pathophysiology, University of Florence, Viale Pieraccini 6, 50139 Florence, Italy

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A Valeri Endocrinology Unit, Endocrinology Unit, Vascular Surgery Unit, Chirurgia Generale, Istituto Toscano Tumori, Department of Clinical Pathophysiology, University of Florence, Viale Pieraccini 6, 50139 Florence, Italy

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M Mannelli Endocrinology Unit, Endocrinology Unit, Vascular Surgery Unit, Chirurgia Generale, Istituto Toscano Tumori, Department of Clinical Pathophysiology, University of Florence, Viale Pieraccini 6, 50139 Florence, Italy
Endocrinology Unit, Endocrinology Unit, Vascular Surgery Unit, Chirurgia Generale, Istituto Toscano Tumori, Department of Clinical Pathophysiology, University of Florence, Viale Pieraccini 6, 50139 Florence, Italy

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includes the genes encoding the four subunits of the succinate dehydrogenase (SDH), enzyme involved in the tricarboxylic acid cycle ( Baysal et al . 2000 , Niemann & Müller 2000 , Astuti et al . 2001 , Burnichon et al . 2010 ) and in the mitochondrial

Article Type:
Research Article
DOI:
https://doi.org/10.1530/ERC-11-0263
Volume/Issue:
Volume 19: Issue 3
Free access
Bora E Baysal
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Eamonn R Maher Department of Pathology, Department of Medical Genetics, Roswell Park Cancer Institute, Buffalo, New York 14263, USA

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dehydrogenase D ( SDHD ; PGL1 locus) and subsequently, SDHD mutations were also demonstrated to be associated with sporadic and familial pheochromocytoma ( Gimm et al . 2000 , Astuti et al . 2001 a ). SDHD encodes the D subunit of the SDH

Article Type:
Review Article
DOI:
https://doi.org/10.1530/ERC-15-0226
Volume/Issue:
Volume 22: Issue 4
Free access