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SDH-related pheochromocytoma and paraganglioma Kantorovich V; King KS; Pacak KBest Pract Res Clin Endocrinol Metab 2010[Jun]; 24 (3): 415-24Pheochromocytoma and paraganglioma are rare tumors of adrenals as well as the sympathetic and parasympathetic paraganglia. Clinical presentation of these tumors depends on localization, secretory profile and malignant potential. Four distinct syndromes--PGL1-4--are related to mutations in the succinate dehydrogenase gene--mitochondrial complex involved in electron transfer and Krebs cycle. Here we describe etiology, genetics, as well as clinical aspects of SDH-related tumors. We also describe recent discoveries in HIF-related pathway of tumorigenesis and mutations in new SDH-related genes that have improved our understanding of this disease.|Adrenal Gland Neoplasms/*enzymology/*genetics/pathology[MESH]|Humans[MESH]|Paraganglioma/*enzymology/*genetics/pathology[MESH]|Pheochromocytoma/*enzymology/*genetics/pathology[MESH]|Succinate Dehydrogenase/*genetics/metabolism[MESH] |
