[HTML][HTML] Belzutifan, a potent HIF2α inhibitor, in the Pacak–Zhuang syndrome
J Kamihara, KV Hamilton, JA Pollard… - … England Journal of …, 2021 - Mass Medical Soc
J Kamihara, KV Hamilton, JA Pollard, CM Clinton, JA Madden, J Lin, A Imamovic, CB Wall…
New England Journal of Medicine, 2021•Mass Medical SocThe 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
EPAS1. Treatment with belzutifan led to a rapid and sustained tumor response along with …
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
EPAS1. Treatment with belzutifan led to a rapid and sustained tumor response along with …
Summary
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 EPAS1. Treatment with belzutifan led to a rapid and sustained tumor response along with resolution of hypertension, headaches, and long-standing polycythemia. This case shows the application of a targeted therapy for the treatment of a patient with a rare tumor-predisposition syndrome. (Funded by the Morin Family Fund for Pediatric Cancer and Alex’s Lemonade Stand Foundation.)
The New England Journal Of Medicine