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Cancer Genetics, Department of Endocrinology, Faculty of Pharmacy, Australian Nuclear Science and Technology Organisation, Kolling Institute of Medical Research, Royal North Shore Hospital, and University of Sydney, Sydney, New South Wales, Australia
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Cancer Genetics, Department of Endocrinology, Faculty of Pharmacy, Australian Nuclear Science and Technology Organisation, Kolling Institute of Medical Research, Royal North Shore Hospital, and University of Sydney, Sydney, New South Wales, Australia
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Cancer Genetics, Department of Endocrinology, Faculty of Pharmacy, Australian Nuclear Science and Technology Organisation, Kolling Institute of Medical Research, Royal North Shore Hospital, and University of Sydney, Sydney, New South Wales, Australia
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context of inherited neoplasia syndromes in more than 30% of cases and are linked to germline mutations in succinate dehydrogenase subunit A ( SDHA ), SDHB , SDHC , SDHD , SDHAF2 , VHL , RET , NF1 , TMEM127 , MAX , KIF1B , EPAS1 ( Lorenzo et
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been reported in the literature, but their association with specific mutations and/or genetic syndromes has not been described ( Subramanian & Maker 2006 ). Germline mutations in the genes encoding subunits B, C, and D of succinate dehydrogenase (SDH
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2, neurofibromatosis type 1, and von Hippel–Lindau syndrome are familial syndromes that predominantly predispose to adrenal pheochromocytomas. By contrast, mutations in the genes encoding succinate dehydrogenase (SDH) subunits B, C, and D cause extra
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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
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Centro di Ricerca e Innovazione sulle Patologie Surrenaliche, AOU Careggi, Florence, Italy
ENS@T Center of Excellence, Florence, Italy
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Centro di Ricerca e Innovazione sulle Patologie Surrenaliche, AOU Careggi, Florence, Italy
ENS@T Center of Excellence, Florence, Italy
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School of Pharmacy and Medical Science, Griffith University, Southport, Queensland, Australia
Faculty of Science and 1st Medical Faculty, Charles University, Prague, Czech Republic
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Centro di Ricerca e Innovazione sulle Patologie Surrenaliche, AOU Careggi, Florence, Italy
ENS@T Center of Excellence, Florence, Italy
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Centro di Ricerca e Innovazione sulle Patologie Surrenaliche, AOU Careggi, Florence, Italy
ENS@T Center of Excellence, Florence, Italy
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al. 2021 , Jhawar et al. 2022 ). These genes include those encoding the four subunits of succinate dehydrogenase (SDH) (SDH subunit A (SDHA), SDH subunit B (SDHB), SDH subunit C (SDHC) and SDH subunit D (SDHD)). PPGLs are predominantly non
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Introduction Succinate dehydrogenase (SDH) or succinate-coenzyme Q reductase is a multimeric enzyme that is bound to the inner membrane of mitochondria ( Oyedotun & Lemire 2004 ). It has a dual role as it serves both as a critical step of the
Reproductive Biology and Medicine Branch, Nuclear Medicine Department, Clinical Neurocardiology Section, 3rd Department of Medicine, Department of Medicine, National Institutes of Child Health and Human Development
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mitochondrial complex II enzyme succinate dehydrogenase enzyme subunit B ( SDHB ; Amar et al . 2005 , Benn et al . 2006 , Brouwers et al . 2006 , Timmers et al . 2007 ). The main sites of metastatic spread of malignant PHEO/PGL are lymphatic nodes (local
Regional Centre for Endocrinology and Diabetes, Royal Victoria Hospital, Belfast Health & Social Care Trust, Belfast, 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
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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
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& Carney 2009 ). Succinate dehydrogenase gene dysregulation is instrumental in orchestrating various endocrine cancer syndromes The past few decades have observed remarkable successes in determining the causes of paragangliomas and GIST, two of the