Prevalence and prognosis of hypoxia-inducible factor-2α (HIF-2α) pathway gene mutations across advanced solid tumors
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View abstract on PubMed
Summary
This summary is machine-generated.Mutations in genes linked to hypoxia-inducible factor-2α (HIF-2α) are rare in most solid tumors but common in VHL-mutated renal cell carcinoma. These HIF-2α gene mutations did not significantly impact overall survival in this study.
Area Of Science
- Oncology
- Genetics
- Molecular Biology
Background
- Hypoxia-inducible factor-2α (HIF-2α) plays a role in tumor development.
- The prevalence and clinical impact of mutations in genes (SDHA, SDHB, SDHC, SDHD, FH, VHL) suspected to activate HIF-2α are not well understood.
Purpose Of The Study
- To investigate the prevalence of HIF-2α-related gene mutations across various solid tumors.
- To explore the association between these mutations and clinical prognosis, specifically overall survival (OS).
Main Methods
- Retrospective analysis of a de-identified, US-based clinico-genomic database (CGDB).
- Included 9467 adult patients with advanced/metastatic solid tumors across 15 tumor types.
- Examined mutations in six key genes: SDHA, SDHB, SDHC, SDHD, FH, and VHL.
Main Results
- HIF-2α-related gene mutations were found in 1.8% of patients.
- Prevalence was low (<1%) across most tumor types, except for VHL mutations in 44% of renal cell carcinomas (RCC).
- No significant difference in median overall survival was observed between patients with and without HIF-2α gene mutations.
Conclusions
- HIF-2α-related gene mutations are uncommon in most solid tumors but are frequent in VHL-mutated RCC.
- HIF-2α gene mutation status was not significantly associated with overall survival in this cohort.
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