| HIF2A Mutations in Paraganglioma with Polycythemia. | |
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MedLine Citation:
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PMID: 23190243 Owner: NLM Status: In-Data-Review |
Abstract/OtherAbstract:
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To the Editor: Zhuang et al. (Sept. 6 issue)(1) report HIF2A somatic mutations in two patients with paraganglioma. In a recent transcriptome analysis of a large number of pheochromocytomas and paragangliomas, we identified 16 sporadic tumors with a transcription signature similar to that of VHL-mutated tumors.(2) There was somatic inactivation of VHL in 11 of the tumors; the genetic defect in the other 5 tumors remained unexplained. We sequenced HIF2A in these tumors and identified a c.1591C→T heterozygous mutation in a pheochromocytoma resected from a 24-year-old woman. This mutation undoubtedly promoted HIF-2α stabilization, since it affected the prolyl hydroxylase . . . |
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Authors:
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Judith Favier; Alexandre Buffet; Anne-Paule Gimenez-Roqueplo |
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Publication Detail:
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Type: Journal Article |
Journal Detail:
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Title: The New England journal of medicine Volume: 367 ISSN: 1533-4406 ISO Abbreviation: N. Engl. J. Med. Publication Date: 2012 Nov |
Date Detail:
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Created Date: 2012-11-29 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 0255562 Medline TA: N Engl J Med Country: United States |
Other Details:
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Languages: eng Pagination: 2161-2 Citation Subset: AIM; IM |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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