• Blood · Mar 2013

    Case Reports

    Novel HIF2A mutations disrupt oxygen sensing, leading to polycythemia, paragangliomas, and somatostatinomas.

    • Chunzhang Yang, Michael G Sun, Joey Matro, Thanh T Huynh, Shervin Rahimpour, Josef T Prchal, Ronald Lechan, Russell Lonser, Karel Pacak, and Zhengping Zhuang.
    • Surgical Neurology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20894, USA.
    • Blood. 2013 Mar 28; 121 (13): 2563-6.

    AbstractHypoxia-inducible factors (HIFs) control the cellular response to hypoxia and, when dysregulated, contribute to tumorigenesis. Previously, we identified 2 gain-of-function somatic mutations in patients presenting with multiple paragangliomas or somatostatinomas, and polycythemia. Here, we report 2 additional unique HIF2A mutations, which disrupt the hydroxylation domain recognized by prolyl hydroxylase domain-2 containing protein, leading to stabilization of HIF-2α and increased expression of hypoxia-related genes.

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