期刊
NEW ENGLAND JOURNAL OF MEDICINE
卷 359, 期 25, 页码 2685-2692出版社
MASSACHUSETTS MEDICAL SOC
DOI: 10.1056/NEJMoa0806277
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资金
- French National Cancer Institute (Programme National d'Excellence Specialisee Rein)
- French League against Cancer (Comites du Cher et de l'Indre)
Prolyl hydroxylase domain (PHD) proteins play a major role in regulating the hypoxia-inducible factor (HIF) that induces expression of genes involved in angiogenesis, erythropoiesis, and cell metabolism, proliferation, and survival. Germ-line mutations in the prolyl hydroxylase domain 2 gene (PHD2) have been reported in patients with familial erythrocytosis but not in association with tumors. We describe a patient with erythrocytosis and recurrent paraganglioma who carries a newly discovered PHD2 mutation. This mutation affects PHD2 function and stabilizes HIF-(alpha) proteins. In addition, we demonstrate loss of heterozygosity of PHD2 in the tumor, suggesting that PHD2 could be a tumor-suppressor gene.
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