title: [Succinate dehydrogenase-deficient tumors--a novel mechanism of tumor formation].
abstract: Succinate dehydrogenase (SDH) is a heterotetrameric enzyme complex participating in the Krebs cycle and electron transfer of oxidative phosphorylation. These tumors, discovered during the past 15 years, often occur in young patients and include 15% of paragangliomas, 7% of gastric gastrointestinal stromal tumors (GISTs), and <1% of renal cell carcinomas and pituitary adenomas. SDH-deficient tumors have lost SDH complex activity via bi-allelic genomic losses or epigenetic silencing. This deficiency is oncogenic, activating pseudohypoxia signaling. SDH deficiency has to be suspected in the above-cited tumor types presenting at a young age. Immunohistochemical testing of tumor tissue for SDHB loss is diagnostic.
authors.forename: Markku
authors.initials: M
authors.lastname: Miettinen
mesh_terms: D002292:Carcinoma, Renal Cell / Q000201:enzymology / Q000235:genetics; D042963:Electron Transport Complex II / Q000172:deficiency* / Q000235:genetics*; D046152:Gastrointestinal Stromal Tumors / Q000201:enzymology / Q000235:genetics; D006801:Humans; D007150:Immunohistochemistry; D007680:Kidney Neoplasms / Q000201:enzymology / Q000235:genetics; D009369:Neoplasms / Q000201:enzymology* / Q000235:genetics*; D010235:Paraganglioma / Q000201:enzymology / Q000235:genetics; D010911:Pituitary Neoplasms / Q000201:enzymology / Q000235:genetics
chemical_list: D042963:Electron Transport Complex II