Pheochromocytoma-associated syndromes: genes, proteins and functions of RET, VHL and SDHx.
Pheochromocytoma are tumors derived from chromaffin cells that secrete catecholamines. These catecholamines may lead to increased blood pressure and even death. Historically, pheochromocytoma have been described as 10 tumor, i.e. about 10 were believed to be malignant, 10 were found to be extra-adrenal, and 10 were meant to be bilateral. Also, about 10 were considered to be hereditary. In these instances, they were most often part of either the multiple endocrine neoplasia type 2 (MEN 2) syndrome or the von Hippel-Lindau (VHL) disease. The genes (RET and VHL) involved have been known for several years and their function is the subject of ongoing investigation. Very recently, several genes (SDHD, SDHB, and SDHC) that belong to the mitochondrial complex II have been identified to be involved in the so-called pheochromocytoma-paraganglioma syndrome. Only SDHD and SDHB have so far been implicated in the pathogenesis of pheochromocytoma.
Gimm
O
O
Department of General, Visceral and Vascular Surgery, University of Halle, Halle, Germany. oliver.gimm@medizin.uni-halle.de
D000310:Adrenal Gland Neoplasms / Q000235:genetics* / Q000503:physiopathology*; D006801:Humans; D015513:Oncogene Proteins / Q000235:genetics*; D010673:Pheochromocytoma / Q000235:genetics* / Q000503:physiopathology*; D051096:Proto-Oncogene Proteins c-ret; D020794:Receptor Protein-Tyrosine Kinases / Q000235:genetics*; D013385:Succinate Dehydrogenase / Q000235:genetics*; D025521:Tumor Suppressor Proteins; D044767:Ubiquitin-Protein Ligases; D051794:Von Hippel-Lindau Tumor Suppressor Protein; D006623:von Hippel-Lindau Disease / Q000235:genetics / Q000503:physiopathology
D015513:Oncogene Proteins; D025521:Tumor Suppressor Proteins; D013385:Succinate Dehydrogenase; D044767:Ubiquitin-Protein Ligases; D051794:Von Hippel-Lindau Tumor Suppressor Protein; D051096:Proto-Oncogene Proteins c-ret; C099282:RET protein, human; D020794:Receptor Protein-Tyrosine Kinases; C497446:VHL protein, human