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HIF2A Mutations in Paraganglioma with Polycythemia.
MedLine Citation:
PMID:  23190243     Owner:  NLM     Status:  In-Data-Review    
Abstract/OtherAbstract:
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 . . .
Authors:
Judith Favier; Alexandre Buffet; Anne-Paule Gimenez-Roqueplo
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  The New England journal of medicine     Volume:  367     ISSN:  1533-4406     ISO Abbreviation:  N. Engl. J. Med.     Publication Date:  2012 Nov 
Date Detail:
Created Date:  2012-11-29     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  0255562     Medline TA:  N Engl J Med     Country:  United States    
Other Details:
Languages:  eng     Pagination:  2161-2     Citation Subset:  AIM; IM    
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