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Volume 360:1361-1362 March 26, 2009 Number 13
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PHD2 Mutation and Congenital Erythrocytosis with Paraganglioma

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by Ladroue, C.
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To the Editor: Ladroue et al. (Dec. 18 issue)1 describe a patient with a newly discovered mutation of the gene encoding prolyl hydroxylase domain 2 (PHD2). In addition to erythrocytosis, this patient had recurrent abdominal tumors. The authors state that the PHD2 mutation affects the stability and functions of hypoxia-inducible factor (HIF) and that prolyl hydroxylase (PHD) inhibitors should be evaluated for an oncogenic effect. We think that the way in which PHD functions affect oncogenesis remains unclear. For example, did the authors detect elevated levels of HIF-1{alpha} or HIF-2{alpha} in the tumor in this patient? Do the authors have . . . [Full Text of this Article]



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