Systemic Therapy Development in Von Hippel–Lindau Disease: An Outsized Contribution from an Orphan Disease

Narayan, Vivek; Jonasch, Eric

doi:10.3390/cancers14215313

Cited by 3 publications

(2 citation statements)

References 52 publications

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“…Pediatr Neurosurg 2023;58:367-378 DOI: 10.1159/000530286 inhibitor for VHL, which blocks a protein that drives oncogenesis by promoting angiogenesis and growth [51]. A 30% response rate for CNS HGBMs was observed in a phase 2 open-label trial of belzutifan [52].…”

Section: Spine Incidental Intraduralmentioning

confidence: 99%

“…Consequently, conservative follow-up of asymptomatic lesions with repeat imaging has been recommended, with surgery reserved for symptomatic lesions or tumors with concerning radiographic characteristics [50]. The Food and Drug Administration granted approval in 2021 to the HIF2α inhibitor belzutifan, the first oral targeted inhibitor for VHL, which blocks a protein that drives oncogenesis by promoting angiogenesis and growth [51]. A 30% response rate for CNS HGBMs was observed in a phase 2 open-label trial of belzutifan [52].…”

Section: Genetic Syndromes and Asymptomatic Lesionsmentioning

confidence: 99%

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Approaches to Incidental Intradural Tumors of the Spine in the Pediatric Population

Hersh¹,

Lubelski²,

Theodore³

et al. 2023

Pediatr Neurosurg

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Background: Incidental intradural tumors of the spine in the pediatric population are rare lesions whose management remains unclear. Surgeons must balance the risks of iatrogenic deficits and complications after surgical resection against the risks from progressive growth of the tumor. Moreover, the natural history of an incidental finding can be difficult to predict. Here we review the literature on incidental intradural tumors of the spine and present considerations for their management. Summary: Growth of the tumor or changes in radiographic features are usually indications for resection. Asymptomatic lesions can be found in patients with genetic syndromes that predispose to tumor formation, such as neurofibromatosis type 1 and 2, schwannomatosis, and Von-Hippel-Lindau syndrome, and careful workup of a genetic cause is warranted in any patient presenting with multiple tumors and/or cutaneous features. Close follow-up is generally favored given the heavy tumor burden; however, some recommend pre-emptive resection to prevent permanent neurological deficits. Incidental intradural tumors can also occur in association with hydrocephalus, significant syringomyelia, and cord compression, and surgical treatment is usually warranted. Tumors may also be discovered as part of the workup for scoliosis, where they are not truly incidental to the scoliosis but rather are contributing to curve deformation. Key Messages: Thorough workup of patients for associated genetic syndromes or comorbidities should be undertaken in pediatric patients with incidental intradural tumors. Further research is needed into the natural history of these incidental lesions. Incidental tumors can often be managed conservatively with close follow-up, with surgical intervention warranted for expanding tumors or new-onset symptoms.

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Section: Spine Incidental Intraduralmentioning

confidence: 99%

Section: Genetic Syndromes and Asymptomatic Lesionsmentioning

confidence: 99%

Approaches to Incidental Intradural Tumors of the Spine in the Pediatric Population

Hersh¹,

Lubelski²,

Theodore³

et al. 2023

Pediatr Neurosurg

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von Hippel–Lindau disease-related neoplasia with an emphasis on renal manifestations

Tekin,

Erickson,

Gupta

2024

Seminars in Diagnostic Pathology

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Belzutifan: a novel therapeutic for the management of von Hippel–Lindau disease and beyond

Curry,

Soleimani

2024

Future Oncology

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The identification of the VHL gene and its role in regulating the hypoxia-inducible factor signaling pathway has helped to revolutionize the treatment of renal cell carcinoma (RCC). Belzutifan is a novel small-molecule inhibitor of hypoxia-inducible factor 2α which has demonstrated efficacy in treating von Hippel–Lindau (VHL) disease, earning regulatory approvals for this indication. There is also early evidence for efficacy in sporadic RCC. Belzutifan has a favorable safety profile. Several clinical trials are currently ongoing, which should help in identifying this promising drug’s role in RCC and beyond. This review summarizes the history, pharmacology and clinical evidence for belzutifan use to date, and also explores unanswered questions as they relate to this novel therapeutic agent.

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Systemic Therapy Development in Von Hippel–Lindau Disease: An Outsized Contribution from an Orphan Disease

Cited by 3 publications

References 52 publications

Approaches to Incidental Intradural Tumors of the Spine in the Pediatric Population

Approaches to Incidental Intradural Tumors of the Spine in the Pediatric Population

von Hippel–Lindau disease-related neoplasia with an emphasis on renal manifestations

Belzutifan: a novel therapeutic for the management of von Hippel–Lindau disease and beyond

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