Belzutifan, a Potent HIF2α Inhibitor, in the Pacak-Zhuang Syndrome.
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ABSTRACT:
SUBMITTER: Kamihara J
PROVIDER: S-EPMC11245359 | biostudies-literature | 2021 Nov
REPOSITORIES: biostudies-literature
Publications
Belzutifan, a Potent HIF2α Inhibitor, in the Pacak-Zhuang Syndrome.
Kamihara Junne J Hamilton Kayla V KV Pollard Jessica A JA Clinton Catherine M CM Madden Jill A JA Lin Jasmine J Imamovic Alma A Wall Catherine B CB Wassner Ari J AJ Weil Brent R BR Heeney Matthew M MM Vargas Sara O SO Kaelin William G WG Janeway Katherine A KA Perini Rodolfo F RF Zojwalla Naseem J NJ Voss Stephan D SD DuBois Steven G SG
The New England journal of medicine 20211101 22
The integration of genomic testing into clinical care enables the use of individualized approaches to the management of rare diseases. We describe the use of belzutifan, a potent and selective small-molecule inhibitor of the protein hypoxia-inducible factor 2α (HIF2α), in a patient with polycythemia and multiple paragangliomas (the Pacak-Zhuang syndrome). The syndrome was caused in this patient by somatic mosaicism for an activating mutation in <i>EPAS1</i>. Treatment with belzutifan led to a ra ...[more]
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