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Harvard Medical School, Boston, Massachusetts, USA
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Department of Imaging, Dana-Farber Cancer Institute, Boston, Massachusetts, USA
Department of Radiology, Brigham and Women’s Hospital, Boston, Massachusetts, USA
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Department of Pathology, Brigham and Women’s Hospital, Boston, Massachusetts, USA
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Harvard Medical School, Boston, Massachusetts, USA
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, among other genes ( Neumann et al. 2002 , Adler et al. 2008 ). SDHx mutations are found in approximately 27% of patients with advanced PHEO/PGL ( Young et al. 2002 ). Pathogenic mutations in succinate dehydrogenase subunit B ( SDHB) have been
Genomic Medicine Institute, Taussig Cancer Institute, Stanley Shalom Zielony Nursing Institute, Division of Medical Oncology, Divisions of Human Genetics, Endocrinology and Metabolism, Comprehensive Cancer Center, Departments of Genetics and Genome Sciences, Epidemiology and Biostatistics, CASE Comprehensive Cancer Center, Lerner Research Institute
Genomic Medicine Institute, Taussig Cancer Institute, Stanley Shalom Zielony Nursing Institute, Division of Medical Oncology, Divisions of Human Genetics, Endocrinology and Metabolism, Comprehensive Cancer Center, Departments of Genetics and Genome Sciences, Epidemiology and Biostatistics, CASE Comprehensive Cancer Center, Lerner Research Institute
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Genomic Medicine Institute, Taussig Cancer Institute, Stanley Shalom Zielony Nursing Institute, Division of Medical Oncology, Divisions of Human Genetics, Endocrinology and Metabolism, Comprehensive Cancer Center, Departments of Genetics and Genome Sciences, Epidemiology and Biostatistics, CASE Comprehensive Cancer Center, Lerner Research Institute
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Genomic Medicine Institute, Taussig Cancer Institute, Stanley Shalom Zielony Nursing Institute, Division of Medical Oncology, Divisions of Human Genetics, Endocrinology and Metabolism, Comprehensive Cancer Center, Departments of Genetics and Genome Sciences, Epidemiology and Biostatistics, CASE Comprehensive Cancer Center, Lerner Research Institute
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Genomic Medicine Institute, Taussig Cancer Institute, Stanley Shalom Zielony Nursing Institute, Division of Medical Oncology, Divisions of Human Genetics, Endocrinology and Metabolism, Comprehensive Cancer Center, Departments of Genetics and Genome Sciences, Epidemiology and Biostatistics, CASE Comprehensive Cancer Center, Lerner Research Institute
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Genomic Medicine Institute, Taussig Cancer Institute, Stanley Shalom Zielony Nursing Institute, Division of Medical Oncology, Divisions of Human Genetics, Endocrinology and Metabolism, Comprehensive Cancer Center, Departments of Genetics and Genome Sciences, Epidemiology and Biostatistics, CASE Comprehensive Cancer Center, Lerner Research Institute
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Genomic Medicine Institute, Taussig Cancer Institute, Stanley Shalom Zielony Nursing Institute, Division of Medical Oncology, Divisions of Human Genetics, Endocrinology and Metabolism, Comprehensive Cancer Center, Departments of Genetics and Genome Sciences, Epidemiology and Biostatistics, CASE Comprehensive Cancer Center, Lerner Research Institute
Genomic Medicine Institute, Taussig Cancer Institute, Stanley Shalom Zielony Nursing Institute, Division of Medical Oncology, Divisions of Human Genetics, Endocrinology and Metabolism, Comprehensive Cancer Center, Departments of Genetics and Genome Sciences, Epidemiology and Biostatistics, CASE Comprehensive Cancer Center, Lerner Research Institute
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Genomic Medicine Institute, Taussig Cancer Institute, Stanley Shalom Zielony Nursing Institute, Division of Medical Oncology, Divisions of Human Genetics, Endocrinology and Metabolism, Comprehensive Cancer Center, Departments of Genetics and Genome Sciences, Epidemiology and Biostatistics, CASE Comprehensive Cancer Center, Lerner Research Institute
Genomic Medicine Institute, Taussig Cancer Institute, Stanley Shalom Zielony Nursing Institute, Division of Medical Oncology, Divisions of Human Genetics, Endocrinology and Metabolism, Comprehensive Cancer Center, Departments of Genetics and Genome Sciences, Epidemiology and Biostatistics, CASE Comprehensive Cancer Center, Lerner Research Institute
Genomic Medicine Institute, Taussig Cancer Institute, Stanley Shalom Zielony Nursing Institute, Division of Medical Oncology, Divisions of Human Genetics, Endocrinology and Metabolism, Comprehensive Cancer Center, Departments of Genetics and Genome Sciences, Epidemiology and Biostatistics, CASE Comprehensive Cancer Center, Lerner Research Institute
Genomic Medicine Institute, Taussig Cancer Institute, Stanley Shalom Zielony Nursing Institute, Division of Medical Oncology, Divisions of Human Genetics, Endocrinology and Metabolism, Comprehensive Cancer Center, Departments of Genetics and Genome Sciences, Epidemiology and Biostatistics, CASE Comprehensive Cancer Center, Lerner Research Institute
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whether germline SDHB/C/D ( SDHx ) variants could also occur in PTEN (MIM 601728) mutation-negative CS/CS-like individuals. Indeed, we found 8–10% of such patients carry SDHx mutations ( Ni et al . 2008 , 2012 ). CS/CS-like individuals with
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Department of Pediatric Hematology and Oncology, Service Central de Biophysique et de Médecine Nucléaire, Département d'Oncologie Moléculaire, Program in Reproductive and Adult Endocrinology, 2nd Medical School, Charles University and University Hospital Motol, Prague, Czech Republic
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SDHx ( SDHD , SDHB , SDHC , SDHA , and SDHAF2 ) mutations and also accounts for about 30% of sporadic tumors ( Dahia et al . 2005 , Lopez-Jimenez et al . 2010 , Burnichon et al . 2011 ). The second group (cluster 2) represents tumors carrying
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Department of Endocrinology, Assistance Publique-Hôpitaux de Paris, Université Paris Descartes, INSERM, Endocrinology Unit, Reproductive and Adult Endocrinology Program, Radboud University Nijmegen Medical Centre, PO Box 9101, 6500 HB Nijmegen, The Netherlands
Department of Endocrinology, Assistance Publique-Hôpitaux de Paris, Université Paris Descartes, INSERM, Endocrinology Unit, Reproductive and Adult Endocrinology Program, Radboud University Nijmegen Medical Centre, PO Box 9101, 6500 HB Nijmegen, The Netherlands
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syndromes with which sPGL is associated are multiple endocrine neoplasia type 2 ( RET mutations), von Hippel-Lindau disease ( VHL mutations), hereditary PGL/pheochromocytoma syndromes ( SDHx mutations), and rarely neurofibromatosis type 1 ( NF1 mutations
Sorbonne University, UMR S 1127, Inserm U 1127, CNRS UMR 7225, ICM, Paris, France
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Paris Cardiovascular Research Center (PARCC), Inserm, Paris, France
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Department of Endocrinology Diabetology, University Hospital Center of Reims, Reims, France
Department of Genetic, University Hospital Center of Reims, Reims, France
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CRESTIC EA 3804, University of Reims Champagne Ardenne, UFR Sciences Exactes et Naturelles, Moulin de La Housse, BP 1039, Reims, France
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Université Paris Cité, Inserm, PARCC, Paris, France
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Université Paris Cité, Inserm, PARCC, Paris, France
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Université Paris Cité, Inserm, PARCC, Paris, France
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Université Paris Cité, Inserm, PARCC, Paris, France
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Paris Cardiovascular Research Center (PARCC), Inserm, Paris, France
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), related to succinate dehydrogenase ( SDHx) pathogenic variants ( Xekouki et al. 2015 ) in about 40% of cases. Genes encoding SDH enzyme and its assembly factor, collectively referred to as SDHx genes ( SDHA, SDHB, SDHC, SDHD, and SDHAF2 ), are the
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been found to harbor mutations in other genes, including platelet-derived growth factor (PDGF) receptor alpha ( PDGFRA ), succinate dehydrogenase complex subunits ( SDHx ), neurofibromin 1 ( NF1 ), B-raf proto-oncogene ( BRAF ) and most recently
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in all informative exons of SDHB , SDHC and SDHD . However, 12 of 35 patients (34.3%) showed SDHx germline alterations, present in neoplastic as well as in non-neoplastic tissue. SDHB In intron 2 of SDHB , germline
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holotetramer to the membrane and serve as the ubiquinone site ( Oyedotun & Lemire 2004 , Kantorovich & Pacak 2010 ). Syndromes related to SDHx mutations The discovery that mutations in genes coding for the subunits SDHB , SDHC , and SDHD were responsible
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). From an initial observation of two patients with Zuckerkandl organ tumors who had SDHx mutations, we searched our clinical database for other patients with tumors involving this organ; we then tested the DNA of these patients retrospectively for
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Department of Medical Imaging, CNRS, Department of Biophysics and Nuclear Medicine, ICube, Department of Otorhinolaryngology–Head and Neck Surgery, Department of Otorhinolaryngology–Head and Neck Surgery, Program in Reproductive and Adult Endocrinology, Department of Nuclear Medicine, Biophysics and Nuclear Medicine, INSERM, La Timone University Hospital, Aix‐Marseille University, Marseille, France
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Department of Medical Imaging, CNRS, Department of Biophysics and Nuclear Medicine, ICube, Department of Otorhinolaryngology–Head and Neck Surgery, Department of Otorhinolaryngology–Head and Neck Surgery, Program in Reproductive and Adult Endocrinology, Department of Nuclear Medicine, Biophysics and Nuclear Medicine, INSERM, La Timone University Hospital, Aix‐Marseille University, Marseille, France
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Department of Medical Imaging, CNRS, Department of Biophysics and Nuclear Medicine, ICube, Department of Otorhinolaryngology–Head and Neck Surgery, Department of Otorhinolaryngology–Head and Neck Surgery, Program in Reproductive and Adult Endocrinology, Department of Nuclear Medicine, Biophysics and Nuclear Medicine, INSERM, La Timone University Hospital, Aix‐Marseille University, Marseille, France
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Department of Medical Imaging, CNRS, Department of Biophysics and Nuclear Medicine, ICube, Department of Otorhinolaryngology–Head and Neck Surgery, Department of Otorhinolaryngology–Head and Neck Surgery, Program in Reproductive and Adult Endocrinology, Department of Nuclear Medicine, Biophysics and Nuclear Medicine, INSERM, La Timone University Hospital, Aix‐Marseille University, Marseille, France
Department of Medical Imaging, CNRS, Department of Biophysics and Nuclear Medicine, ICube, Department of Otorhinolaryngology–Head and Neck Surgery, Department of Otorhinolaryngology–Head and Neck Surgery, Program in Reproductive and Adult Endocrinology, Department of Nuclear Medicine, Biophysics and Nuclear Medicine, INSERM, La Timone University Hospital, Aix‐Marseille University, Marseille, France
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in one of the succinate dehydrogenase (SDH) subunit genes (collectively referred to as SDHx ) ( Baysal et al . 2002 , Neumann et al . 2009 , Piccini et al . 2012 , Martucci & Pacak 2014 ). The SDH complex (also named mitochondrial complex II