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A new twist in neuroendocrine tumor research: Pacak-Zhuang syndrome, HIF-2α as the major player in its pathogenesis and future therapeutic options
I. Jochmanova, I. Lazurova
Language English Country Czech Republic
Document type Journal Article, Review
NLK
Directory of Open Access Journals
from 2001
Free Medical Journals
from 1998
Medline Complete (EBSCOhost)
from 2007-06-01
ROAD: Directory of Open Access Scholarly Resources
from 2001
- MeSH
- Carcinogenesis genetics MeSH
- Humans MeSH
- Mutation MeSH
- Paraganglioma drug therapy genetics MeSH
- Polycythemia congenital drug therapy genetics MeSH
- Somatostatinoma drug therapy genetics MeSH
- Syndrome MeSH
- Basic Helix-Loop-Helix Transcription Factors genetics MeSH
- Check Tag
- Humans MeSH
- Publication type
- Journal Article MeSH
- Review MeSH
UNLABELLED: Backround. There is increasing evidence of the role of hypoxia or pseudohypoxia in tumorigenesis, including pheochromocytoma (PHEO) and paraganglioma (PGL). (Pseudo)hypoxia leads to activation of hypoxia-inducible transcription factors (HIFs) and thus, promotes the transcription of hypoxia-responsive genes which are involved in tumorigenesis. Recently identified is a new syndrome consisting of multiple and recurrent PGLs or PHEOs, somatostatinoma, and congenital polycythemia, due to somatic hypoxia-inducible factor 2α gene (HIF2A) mutations. METHODS AND RESULTS: PubMed and Web of Science online databases were used to search reviews and original articles on the HIF, PHEO/PGL, and Pacak-Zhuang syndrome. CONCLUSIONS: The novel somatic and germline gain-of-function HIF2A mutations described latterly emphasize the role of the HIF-2α in the PHEO/PGL development and these findings designate HIF, especially HIF-2α, as a promising treatment target.
References provided by Crossref.org
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