Pediatric patients with von Hippel-Lindau and hemangioblastomas treated successfully with belzutifan

Emily Duan; Michael Robinson; Charles Davis; Sumit Pruthi; Christina Shin; Marisa Lewis; Julian A Martinez-Agosto; Michael B Gorin; Brian M Shuch; Debra L Friedman; Vivian Y Chang

doi:10.1002/pbc.31371

Pediatric patients with von Hippel-Lindau and hemangioblastomas treated successfully with belzutifan

Pediatr Blood Cancer. 2025 Jan;72(1):e31371. doi: 10.1002/pbc.31371. Epub 2024 Oct 16.

Authors

Emily Duan¹, Michael Robinson², Charles Davis³, Sumit Pruthi⁴, Christina Shin⁵, Marisa Lewis⁶, Julian A Martinez-Agosto^{7

8

9}, Michael B Gorin¹⁰, Brian M Shuch^{9

11}, Debra L Friedman², Vivian Y Chang^{6

9

12}

Affiliations

¹ Department of Pediatrics, University of California, Los Angeles (UCLA), Los Angeles, California, USA.
² Division of Pediatric Hematology/Oncology, Vanderbilt, Nashville, Tennessee, USA.
³ Department of Radiology, UCLA, Los Angeles, California, USA.
⁴ Department of Neuroradiology, Vanderbilt, Nashville, Tennessee, USA.
⁵ Ronald Reagan UCLA Medical Center, UCLA, Los Angeles, California, USA.
⁶ Division of Pediatric Hematology/Oncology, UCLA, Los Angeles, California, USA.
⁷ Division of Clinical Genetics, Department of Human Genetics, UCLA, Los Angeles, California, USA.
⁸ Department of Psychiatry, UCLA, Los Angeles, California, USA.
⁹ Jonsson Comprehensive Cancer Center, UCLA, Los Angeles, California, USA.
¹⁰ Department of Ophthalmology, UCLA, Los Angeles, California, USA.
¹¹ Department of Urology, UCLA, Los Angeles, California, USA.
¹² Children's Discovery and Innovation Institute, UCLA, Los Angeles, California, USA.

PMID: 39415342
DOI: 10.1002/pbc.31371

Abstract

Hemangioblastoma is the most common tumor associated with von Hippel-Lindau (VHL), and are a leading cause of mortality. We present five pediatric patients with VHL-associated hemangioblastomas treated with belzutifan, a hypoxia-inducible factor 2a (HIF2a) inhibitor. Three patients were started on belzutifan due to vision loss from progressive retinal hemangioblastomas. Within one year of treatment, all three patients had improvement in hemangioblastoma size and visual acuity. For patients with intracranial lesions, belzutifan resulted in an improvement in neurologic symptoms and hemangioblastoma size. Four patients experienced grade 1-2 anemia and two patients required a dose reduction. Our report suggests that belzutifan can be an effective therapy for pediatric, adolescent, and young adult patients with VHL-associated hemangioblastomas.

Keywords: belzutifan; hemangioblastoma; pediatric; von Hippel–Lindau.

Publication types

Case Reports

MeSH terms

Cerebellar Neoplasms / drug therapy
Cerebellar Neoplasms / pathology
Hemangioblastoma* / drug therapy
Hemangioblastoma* / pathology
Humans
von Hippel-Lindau Disease* / complications
von Hippel-Lindau Disease* / drug therapy
von Hippel-Lindau Disease* / pathology

Substances

endothelial PAS domain-containing protein 1