Article
Hypoxia-Inducible Factor 2α Mutation-Related Paragangliomas Classify as Discrete Pseudohypoxic Subcluster.
Neoplasia (New York, N.Y.) - 1 Sept 2016
Fliedner Stephanie M J, Shankavaram Uma, Marzouca Geena, Elkahloun Abdel, Jochmanova Ivana, Daerr Roland, Linehan W Marston, Timmers Henri, Tischler Arthur S, Papaspyrou Konstantinos, Brieger Jürgen, de Krijger Ronald, Breza Jan, Eisenhofer Graeme, Zhuang Zhengping, Lehnert Hendrik, Pacak Karel
Abstract excerpt
Recently, activating mutations of the hypoxia-inducible factor 2α gene (HIF2A/EPAS1) have been recognized to predispose to multiple paragangliomas (PGLs) and duodenal somatostatinomas associated with polycythemia, and ocular abnormalities. Previously, mutations in the SDHA/B/C/D, SDHAF2, VHL, FH, PHD1, and PHD2 genes have been associated with HIF activation and the development of pseudohypoxic (cluster-1) PGLs....
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