Metabolome-guided genomics to identify pathogenic variants in isocitrate dehydrogenase, fumarate hydratase, and succinate dehydrogenase genes in pheochromocytoma and paraganglioma.,Genetics in Medicine

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Metabolome-guided genomics to identify pathogenic variants in isocitrate dehydrogenase, fumarate hydratase, and succinate dehydrogenase genes in pheochromocytoma and paraganglioma.
Genetics in Medicine ( IF 6.6 ) Pub Date : 2018-Jul-27 , DOI: 10.1038/s41436-018-0106-5
Susan Richter ₁ , Laura Gieldon ₂ , Ying Pang ₃ , Mirko Peitzsch ₁ , Thanh Huynh ₃ , Rocio Leton ₄ , Bruna Viana ₃ , Tonino Ercolino ₅ , Anastasios Mangelis ₁ , Elena Rapizzi ₆ , Mario Menschikowski ₁ , Daniela Aust ₇ , Matthias Kroiss ₈ , Felix Beuschlein _{9,

10} , Volker Gudziol ₁₁ , Henri Jlm Timmers ₁₂ , Jacques Lenders _{12,

13} , Massimo Mannelli ₆ , Alberto Cascon ₄ , Karel Pacak ₃ , Mercedes Robledo ₄ , Graeme Eisenhofer _{1,

13} , Barbara Klink ₂

Affiliation

Institute of Clinical Chemistry and Laboratory Medicine, University Hospital Carl Gustav Carus, Medical Faculty Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany.
Institute for Clinical Genetics, Medical Faculty Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany.
Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland, USA.
Hereditary Endocrine Cancer Group, CNIO, Madrid, Spain and Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spain.
Azienda Ospedaliero-Universitaria Careggi, Endocrinology Unit, Florence, Italy.
Department of Experimental and Clinical Medicine, University of Florence, Florence, Italy.
Institute of Pathology, Tumor and Normal Tissue Bank of the UCC/NCT Dresden, University Hospital Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany.
Department of Internal Medicine, Division of Endocrinology, University Hospital, University of Würzburg, Würzburg, Germany.
Medizinische Klinik and Poliklinik IV, Ludwig-Maximilians-Universität München, Munich, Germany.
Department for Endocrinology, Diabetology and Clinical Nutrition, UniversitätsSpital Zürich, Zurich, Switzerland.
Departments of Otorhinolaryngology, University Hospital Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany.
Department of Internal Medicine, Radboud University Medical Centre, Nijmegen, The Netherlands.
Department of Medicine III, University Hospital Dresden, Dresden, Germany.

Metabolic aberrations have been described in neoplasms with pathogenic variants (PV) in the Krebs cycle genes encoding succinate dehydrogenase (SDH), fumarate hydratase (FH) and isocitrate dehydrogenase (IDH). In turn, accumulation of oncometabolites succinate, fumarate, and 2-hydroxyglutarate can be employed to identify tumors with those PV . Additionally, such metabolic readouts may aid in genetic variant interpretation and improve diagnostics.

中文翻译：

代谢组引导基因组学鉴定嗜铬细胞瘤和副神经节瘤中异柠檬酸脱氢酶、延胡索酸水合酶和琥珀酸脱氢酶基因的致病变异。

在具有编码琥珀酸脱氢酶 (SDH)、延胡索酸水合酶 (FH) 和异柠檬酸脱氢酶 (IDH) 的克雷布斯循环基因中的致病变异 (PV) 的肿瘤中已经描述了代谢异常。反过来，致癌代谢物琥珀酸、富马酸和 2-羟基戊二酸的积累可用于识别具有这些 PV 的肿瘤。此外，这种代谢读数可能有助于遗传变异解释和改进诊断。

更新日期：2018-07-26

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