HIF2A gain-of-function mutations detected in duodenal gangliocytic paraganglioma

. 2016 May ; 23 (5) : L13-6. [epub] 20160429

Jazyk angličtina Země Velká Británie, Anglie Médium print-electronic

Typ dokumentu dopisy, Research Support, N.I.H., Intramural

Perzistentní odkaz   https://www.medvik.cz/link/pmid27130043

Grantová podpora
ZIA HD008735 Intramural NIH HHS - United States

Zobrazit více v PubMed

Comino-Mendez I, de Cubas AA, Bernal C, Alvarez-Escola C, Sanchez-Malo C, Ramirez-Tortosa CL, Pedrinaci S, Rapizzi E, Ercolino T, Bernini G, et al. Tumoral EPAS1 (HIF2A) mutations explain sporadic pheochromocytoma and paraganglioma in the absence of erythrocytosis. Hum Mol Genet. 2013;22:2169–2176. PubMed

Dahia PL, Ross KN, Wright ME, Hayashida CY, Santagata S, Barontini M, Kung AL, Sanso G, Powers JF, Tischler AS, et al. A HIF1alpha regulatory loop links hypoxia and mitochondrial signals in pheochromocytomas. PLoS Genet. 2005;1:72–80. PubMed PMC

Neumann HP, Eng C. The approach to the patient with paraganglioma. J Clin Endocrinol Metab. 2009;94:2677–2683. PubMed PMC

Pacak K, Jochmanova I, Prodanov T, Yang C, Merino MJ, Fojo T, Prchal JT, Tischler AS, Lechan RM, Zhuang Z. New syndrome of paraganglioma and somatostatinoma associated with polycythemia. J Clin Oncol. 2013;31:1690–1698. PubMed PMC

Perrone T, Sibley RK, Rosai J. Duodenal gangliocytic paraganglioma. An immunohistochemical and ultrastructural study and a hypothesis concerning its origin. Am J Surg Pathol. 1985;9:31–41. PubMed

Pietras A, Hansford LM, Johnsson AS, Bridges E, Sjolund J, Gisselsson D, Rehn M, Beckman S, Noguera R, Navarro S, et al. HIF-2alpha maintains an undifferentiated state in neural crest-like human neuroblastoma tumor-initiating cells. Proc Natl Acad Sci U S A. 2009;106:16805–16810. PubMed PMC

Toledo RA, Qin Y, Srikantan S, Morales NP, Li Q, Deng Y, Kim SW, Pereira MA, Toledo SP, Su X, et al. In vivo and in vitro oncogenic effects of HIF2A mutations in pheochromocytomas and paragangliomas. Endocr Relat Cancer. 2013;20:349–359. PubMed PMC

Toyoda H, Hirayama J, Sugimoto Y, Uchida K, Ohishi K, Hirayama M, Komada Y. Polycythemia and paraganglioma with a novel somatic HIF2A mutation in a male. Pediatrics. 2014;133:e1787–1791. PubMed

Witzigmann H, Loracher C, Geissler F, Wagner T, Tannapfel A, Uhlmann D, Caca K, Hauss J, Hehl JA. Neuroendocrine tumours of the duodenum. Clinical aspects, pathomorphology and therapy. Langenbecks Arch Surg. 2002;386:525–533. PubMed

Zhuang Z, Yang C, Lorenzo F, Merino M, Fojo T, Kebebew E, Popovic V, Stratakis CA, Prchal JT, Pacak K. Somatic HIF2A gain-of-function mutations in paraganglioma with polycythemia. N Engl J Med. 2012;367:922–930. PubMed PMC

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