Display options
Cite
Kamihara J, Hamilton KV, Pollard JA, et al. Belzutifan, a Potent HIF2α Inhibitor, in the Pacak-Zhuang Syndrome. N Engl J Med. 2021;385(22):2059-2065doi: 10.1056/NEJMoa2110051.
Kamihara, J., Hamilton, K. V., Pollard, J. A., Clinton, C. M., Madden, J. A., Lin, J., Imamovic, A., Wall, C. B., Wassner, A. J., Weil, B. R., Heeney, M. M., Vargas, S. O., Kaelin, W. G., Janeway, K. A., Perini, R. F., Zojwalla, N. J., Voss, S. D., & DuBois, S. G. (2021). Belzutifan, a Potent HIF2α Inhibitor, in the Pacak-Zhuang Syndrome. The New England journal of medicine, 385(22), 2059-2065. https://doi.org/10.1056/NEJMoa2110051
Kamihara, Junne, et al. "Belzutifan, a Potent HIF2α Inhibitor, in the Pacak-Zhuang Syndrome." The New England journal of medicine vol. 385,22 (2021): 2059-2065. doi: https://doi.org/10.1056/NEJMoa2110051
Kamihara J, Hamilton KV, Pollard JA, Clinton CM, Madden JA, Lin J, Imamovic A, Wall CB, Wassner AJ, Weil BR, Heeney MM, Vargas SO, Kaelin WG, Janeway KA, Perini RF, Zojwalla NJ, Voss SD, DuBois SG. Belzutifan, a Potent HIF2α Inhibitor, in the Pacak-Zhuang Syndrome. N Engl J Med. 2021 Nov 25;385(22):2059-2065. doi: 10.1056/NEJMoa2110051. PMID: 34818480.
Copy Download .nbib Format: NLM
Share it on

N Engl J Med. 2021 Nov 25;385(22):2059-2065. doi: 10.1056/NEJMoa2110051.

Belzutifan, a Potent HIF2α Inhibitor, in the Pacak-Zhuang Syndrome.

The New England journal of medicine

Junne Kamihara, Kayla V Hamilton, Jessica A Pollard, Catherine M Clinton, Jill A Madden, Jasmine Lin, Alma Imamovic, Catherine B Wall, Ari J Wassner, Brent R Weil, Matthew M Heeney, Sara O Vargas, William G Kaelin, Katherine A Janeway, Rodolfo F Perini, Naseem J Zojwalla, Stephan D Voss, Steven G DuBois

Affiliations

  1. From the Departments of Pediatric Oncology (J.K., K.V.H., J.A.P., C.M.C., A.I., C.B.W., K.A.J., S.G.D.) and Medical Oncology (W.G.K.), Dana-Farber Cancer Institute, Harvard Medical School, the Divisions of Hematology and Oncology (J.K., J.A.P., M.M.H., K.A.J., S.G.D.) and Endocrinology (A.J.W.) and the Departments of Surgery (B.R.W.), Pathology (S.O.V.), and Radiology (S.D.V.), Boston Children's Hospital, Harvard Medical School, and the Manton Center for Orphan Disease Research and the Division of Genetics and Genomics, Boston Children's Hospital (J.A.M., J.L.) - all in Boston; Howard Hughes Medical Institute, Chevy Chase, MD (W.G.K.); and Merck, Kenilworth, NJ (R.F.P., N.J.Z.).

PMID: 34818480 DOI: 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

Copyright © 2021 Massachusetts Medical Society.

Publication Types