Belzutifan, a Potent HIF2α Inhibitor, in the Pacak-Zhuang Syndrome.
N Engl J Med
; 385(22): 2059-2065, 2021 11 25.
Article
in En
| MEDLINE
| ID: mdl-34818480
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.).
Full text:
1
Database:
MEDLINE
Main subject:
Paraganglioma
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Polycythemia
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Adrenal Gland Neoplasms
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Basic Helix-Loop-Helix Transcription Factors
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Indenes
Limits:
Adolescent
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Female
/
Humans
Language:
En
Journal:
N Engl J Med
Year:
2021
Type:
Article