Ivana Jochmanova1, Ivica Lazurova. 1. st Department of Internal Medicine, Medical Faculty, P.J. Safarik University, Trieda SNP 1, 04011, Kosice, Slovak Republic.
Abstract
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.
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.
Authors: G Donatini; J L Kraimps; C Caillard; E Mirallie; F Pierre; Loïc De Calan; A Hamy; O Larin; O Tovkay; S Cherenko Journal: Surg Endosc Date: 2018-02-27 Impact factor: 4.584
Authors: Trisha Dwight; Edward Kim; Karine Bastard; Diana E Benn; Graeme Eisenhofer; Susan Richter; Massimo Mannelli; Elena Rapizzi; Aleksander Prejbisz; Mariola Pęczkowska; Karel Pacak; Roderick Clifton-Bligh Journal: Endocr Relat Cancer Date: 2021-02 Impact factor: 5.678