HIF gene mutation found in tumor cells offers new clues about cancer metabolism

For the first time, a mutation in HIF2α, a specific group of genes known as transcription factors that is involved in red blood cell production and cell metabolism, has been identified in cancer tumor cells. Researchers from Huntsman Cancer Institute (HCI) at the University of Utah and the National Institutes of Health found the mutation in tumor cells of two patients with the rare cancers paraganglioma/pheochromocytoma and somatostatinoma. The mutation was previously identified in connection with a non-cancerous hereditary condition, but never before in spontaneously arising cancers. Read more here.

Study mentioned: Zhuang Z, et al. Somatic HIF2A gain-of-function mutations in paraganglioma with polycythemia. N Engl J Med. 2012 Sep 6;367(10):922-30. PMID: 22931260