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翻訳と辞書　辞書検索 [ 開発暫定版 ] スポンサード リンク Pacak–Zhuang syndrome ： ウィキペディア英語版 Pacak–Zhuang syndrome The Pacak-Zhuang syndrome is a recently described disease manifestation in females that includes multiple paragangliomas and somatostatinomas (in some), both neuroendocrine tumors, and secondary polycythemia associated with high erythropoietin levels. Paragangliomas in these patients are mainly localized to the abdomen whereas somatostatinomas are found in the second portion of the duodenum, as shown by imaging or biochemistry.〔Pacak K, Jochmanova I, Prodanov T, et al: New syndrome of paraganglioma and somatostatinoma associated with polycythemia. J Clin Oncol, 31(13):1690-1698, 2013.〕 This syndrome is of special interest as finding more than one type of neuroendocrine tumor in one individual is unusual.〔 Such co-occurrences are usually seen in patients carrying hereditary syndromes like multiple endocrine neoplasia (MEN), neurofibromatosis 1 (NF1), or von Hippel-Lindau (VHL) disease.〔Lenders JW, Eisenhofer G, Mannelli M, Pacak K. Phaeochromocytoma. Lancet 2005; 366:665-675.〕〔Gimenez-Roqueplo AP, Dahia PL, Robledo M. An update on the genetics of paraganglioma, pheochromocytoma, and associated hereditary syndromes. Horm Metab Res 2012; 44:328-333.〕 == Genetic pathway == Mutations in the genes encoding alpha subunits of hypoxia-inducible factors (HIF-alpha) have not previously been identified in any cancer.〔http://irp.nih.gov/catalyst/v21i3/research-briefs〕 In the Pacak–Zhuang syndrome, patients have somatic gain of function mutations in the genes encoding for ''HIF2A'', leading to prolonged HIF-2α activity and, thus, an increase in its half-life.〔Jochmanova I, Yang C, Zhuang Z, Pacak K. Hypoxia-inducible factor signaling in pheochromocytoma: turning the rudder in the right direction. J Natl Cancer Inst 2013; 105:1270-1283.〕 While each patient has different nucleic acid changes, all patients are found to have a point mutation near the prolyl-sensing residue site, responsible for HIF-2α hydroxylation.〔 抄文引用元・出典: フリー百科事典『 ウィキペディア（Wikipedia）』 ■ウィキペディアで「Pacak–Zhuang syndrome」の詳細全文を読む スポンサード リンク 翻訳と辞書 : 翻訳のためのインターネットリソース Copyright(C) kotoba.ne.jp 1997-2016. All Rights Reserved.