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Department of Endocrinology, Royal North Shore Hospital, Sydney, Australia
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Faculty of Medicine and Health, The University of Sydney, Sydney, Australia
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Faculty of Medicine and Health, The University of Sydney, Sydney, Australia
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Faculty of Medicine and Health, The University of Sydney, Sydney, Australia
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Cancer Genetics Laboratory, Kolling Institute, Royal North Shore Hospital, Sydney, Australia
Faculty of Medicine and Health, The University of Sydney, Sydney, Australia
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Introduction Phaeochromocytomas and paragangliomas (collectively termed PPGL) are rare neuroendocrine tumours originating from chromaffin cells of the adrenal medulla, and neuroendocrine paraganglia, respectively. Paragangliomas (PGLs) are
Department of Endocrinology, St Bartholomew’s Hospital, Barts Health NHS Trust. West Smithfield, London, UK
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Department of Endocrinology, St Bartholomew’s Hospital, Barts Health NHS Trust. West Smithfield, London, UK
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Department of Endocrinology, St Bartholomew’s Hospital, Barts Health NHS Trust. West Smithfield, London, UK
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Introduction Phaeochromocytoma and paragangliomas (PPGLs) are rare neuroendocrine tumours of the autonomic nervous system that can arise anywhere from the skull base to the pelvic floor and may secrete catecholamines. All PPGLs should be
University of Sydney, Camperdown, New South Wales, Australia
Department of Endocrinology, Royal North Shore Hospital, St Leonards, New South Wales, Australia
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Department of Endocrinology, St. Bartholomew’s Hospital, Barts Health NHS Trust, London, UK
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University of Sydney, Camperdown, New South Wales, Australia
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School of Medicine, University of Tasmania, Hobart, Tasmania, Australia
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Department of Endocrinology, St. Bartholomew’s Hospital, Barts Health NHS Trust, London, UK
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University of Sydney, Camperdown, New South Wales, Australia
Department of Endocrinology, Royal North Shore Hospital, St Leonards, New South Wales, Australia
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Introduction The phaeochromocytoma and paraganglioma (PPGL) tumour group is the most heritable of tumours, with at least 40% of cases arising from a pathogenic germline mutation ( Dahia 2014 ). Of these, around half are caused by pathogenic
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Introduction Phaeochromocytomas (PCs) are tumours in the adrenal medulla, and paragangliomas (PGLs) arise in extra-adrenal sympathetic chromaffin tissue or head and neck parasympathetic tissues. Familial occurrence of PGLs was first reported in 1933
Regional Centre for Endocrinology and Diabetes, Royal Victoria Hospital, Belfast Health & Social Care Trust, Belfast, UK
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Introduction Primary tumours of adenohypophyseal cells recently suggested to be redefined as pituitary neuroendocrine tumours (PitNETs) can rarely occur in association with paraganglioma (PGL) or phaeochromocytoma. These tumours may develop in
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Department of Medical and Molecular Genetics, Cancer Research UK Renal Molecular Oncology Research Group, Hereditary Endocrine Cancer Group, The Tumour Bank, Department of Nephrology, Institute of Biomedical Research
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Department of Medical and Molecular Genetics, Cancer Research UK Renal Molecular Oncology Research Group, Hereditary Endocrine Cancer Group, The Tumour Bank, Department of Nephrology, Institute of Biomedical Research
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Department of Medical and Molecular Genetics, Cancer Research UK Renal Molecular Oncology Research Group, Hereditary Endocrine Cancer Group, The Tumour Bank, Department of Nephrology, Institute of Biomedical Research
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Department of Medical and Molecular Genetics, Cancer Research UK Renal Molecular Oncology Research Group, Hereditary Endocrine Cancer Group, The Tumour Bank, Department of Nephrology, Institute of Biomedical Research
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Department of Medical and Molecular Genetics, Cancer Research UK Renal Molecular Oncology Research Group, Hereditary Endocrine Cancer Group, The Tumour Bank, Department of Nephrology, Institute of Biomedical Research
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Department of Medical and Molecular Genetics, Cancer Research UK Renal Molecular Oncology Research Group, Hereditary Endocrine Cancer Group, The Tumour Bank, Department of Nephrology, Institute of Biomedical Research
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Introduction Neuroblastoma and phaeochromocytoma are the commonest neural crest-derived tumours in children and adults respectively. Most phaeochromocytomas are benign catecholamine-producing tumours arising within the adrenal medulla, but may be
Centre for Rare Diseases and Personalised Medicine, CRUK Renal Molecular Oncology Group, Chemistry Research Laboratory, Howard Hughes Medical Institute, Oxygen Sensing and Cancer Laboratory, Department of Biochemistry and Center for Molecular Neuroscience, Henry Wellcome Building for Molecular Physiology, West Midlands Regional Genetics Service, University of Birmingham, Birmingham B15 2TT, UK
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Centre for Rare Diseases and Personalised Medicine, CRUK Renal Molecular Oncology Group, Chemistry Research Laboratory, Howard Hughes Medical Institute, Oxygen Sensing and Cancer Laboratory, Department of Biochemistry and Center for Molecular Neuroscience, Henry Wellcome Building for Molecular Physiology, West Midlands Regional Genetics Service, University of Birmingham, Birmingham B15 2TT, UK
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Centre for Rare Diseases and Personalised Medicine, CRUK Renal Molecular Oncology Group, Chemistry Research Laboratory, Howard Hughes Medical Institute, Oxygen Sensing and Cancer Laboratory, Department of Biochemistry and Center for Molecular Neuroscience, Henry Wellcome Building for Molecular Physiology, West Midlands Regional Genetics Service, University of Birmingham, Birmingham B15 2TT, UK
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Centre for Rare Diseases and Personalised Medicine, CRUK Renal Molecular Oncology Group, Chemistry Research Laboratory, Howard Hughes Medical Institute, Oxygen Sensing and Cancer Laboratory, Department of Biochemistry and Center for Molecular Neuroscience, Henry Wellcome Building for Molecular Physiology, West Midlands Regional Genetics Service, University of Birmingham, Birmingham B15 2TT, UK
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Centre for Rare Diseases and Personalised Medicine, CRUK Renal Molecular Oncology Group, Chemistry Research Laboratory, Howard Hughes Medical Institute, Oxygen Sensing and Cancer Laboratory, Department of Biochemistry and Center for Molecular Neuroscience, Henry Wellcome Building for Molecular Physiology, West Midlands Regional Genetics Service, University of Birmingham, Birmingham B15 2TT, UK
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Centre for Rare Diseases and Personalised Medicine, CRUK Renal Molecular Oncology Group, Chemistry Research Laboratory, Howard Hughes Medical Institute, Oxygen Sensing and Cancer Laboratory, Department of Biochemistry and Center for Molecular Neuroscience, Henry Wellcome Building for Molecular Physiology, West Midlands Regional Genetics Service, University of Birmingham, Birmingham B15 2TT, UK
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Centre for Rare Diseases and Personalised Medicine, CRUK Renal Molecular Oncology Group, Chemistry Research Laboratory, Howard Hughes Medical Institute, Oxygen Sensing and Cancer Laboratory, Department of Biochemistry and Center for Molecular Neuroscience, Henry Wellcome Building for Molecular Physiology, West Midlands Regional Genetics Service, University of Birmingham, Birmingham B15 2TT, UK
Centre for Rare Diseases and Personalised Medicine, CRUK Renal Molecular Oncology Group, Chemistry Research Laboratory, Howard Hughes Medical Institute, Oxygen Sensing and Cancer Laboratory, Department of Biochemistry and Center for Molecular Neuroscience, Henry Wellcome Building for Molecular Physiology, West Midlands Regional Genetics Service, University of Birmingham, Birmingham B15 2TT, UK
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Introduction Germline mutations in the von Hippel–Lindau ( VHL ) tumour suppressor gene and in the B, C and D subunits of succinate dehydrogenase ( SDHB , SDHC and SDHD ) are strongly linked with susceptibility to phaeochromocytoma ( Latif et al
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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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Introduction MEN2 (MIM #164761) is a dominantly inherited multiglandular tumour syndrome that presents with a high penetrance of medullary thyroid carcinoma (MTC; observed in virtually 100% of cases), phaeochromocytoma (50%) and parathyroid adenoma
Department of Endocrinology, Cambridge University NHS Foundation Trust, Cambridge, UK
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the development of phaeochromocytoma (PC) and PGL tumours over 15 years ago, SDHA was first associated with PGL only seven years ago ( Burnichon et al . 2010 ) and, more recently, with wild-type gastrointestinal stromal tumours (WT GIST) ( Evenepoel
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T Kakoi N Rakugi H Ikeda Y Tanabe A Nigawara T 2014 Pathological grading for predicting metastasis in phaeochromocytoma and paraganglioma . Endocrine-Related Cancer 21 405 – 414 . ( https://doi.org/10.1530/ERC-13-0494 ) Kunz PL Reidy