Belzutifan, a Potent HIF2α Inhibitor, in the Pacak–Zhuang Syndrome
- 25 November 2021
- journal article
- research article
- Published by Massachusetts Medical Society in The New England Journal of Medicine
- Vol. 385 (22), 2059-2065
- https://doi.org/10.1056/nejmoa2110051
Abstract
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.)Keywords
Funding Information
- Alex’s Lemonade Stand Foundation for Childhood Cancer
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