Prevalence and prognosis of hypoxia‐inducible factor‐2α (HIF‐2α) pathway gene mutations across advanced solid tumors

Introduction Hypoxia‐inducible factor‐2α (HIF‐2α) modulates the hypoxic response pathway in tumors; however, mutations in pathways (including SDHA, SDHB, SDHC, SDHD, FH, and VHL genes) that are suspected to activate HIF‐2α are poorly understood, with limited understanding of the prevalence and clini...

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Vydáno v:	Cancer medicine (Malden, MA) Ročník 13; číslo 11; s. e7358 - n/a
Hlavní autoři:	Zhong, Wenjun, Ma, Jiemin, Chen, Cai, Dettman, E. J., Cristescu, Razvan, Naik, Girish S., Jin, Fan, Shao, Changxia
Médium:	Journal Article
Jazyk:	angličtina
Vydáno:	United States John Wiley & Sons, Inc 01.06.2024 John Wiley and Sons Inc Wiley
Témata:	Adult Aged Basic Helix-Loop-Helix Transcription Factors - genetics Bladder cancer Cancer therapies Colorectal cancer Datasets Electronic health records Endometrial cancer epidemiology Female Gastric cancer Genes HIF‐2α Humans Hypoxia Hypoxia-inducible factors Kidney cancer Liver cancer Lung cancer Male Medical prognosis Melanoma Mesothelioma Metastases Metastasis Middle Aged Mutation Neoplasms - epidemiology Neoplasms - genetics Neoplasms - mortality Neoplasms - pathology oncology Ovaries Patients Point mutation Population Population studies Prevalence Prognosis Prostate Renal cell carcinoma Retrospective Studies Solid tumors Tumors United States > US epidemiology prevalence HIF‐2α prognosis oncology
ISSN:	2045-7634, 2045-7634
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Shrnutí:	Introduction Hypoxia‐inducible factor‐2α (HIF‐2α) modulates the hypoxic response pathway in tumors; however, mutations in pathways (including SDHA, SDHB, SDHC, SDHD, FH, and VHL genes) that are suspected to activate HIF‐2α are poorly understood, with limited understanding of the prevalence and clinical prognosis. Methods This retrospective observational study used a de‐identified nationwide (US‐based) clinico‐genomic database (CGDB) across 15 available tumor types. Results Among the 9467 adult patients with advanced/metastatic solid tumors included in the analysis, any mutation at the above‐mentioned six genes was observed in 1.8% (95% CI: 1.5–2.1) of patients. The mutation prevalence ranged from 0.05% of SDHD to 0.93% of VHL. When further stratified by tumor type, the prevalence of gene mutation in each tumor type was well below 1%, except for VHL with 44% in renal cell carcinomas (RCC). Excluding RCC, the prevalence of any HIF‐2α gene mutations in the study population was 0.9% (95% CI: 0.8–1.2). The median overall survival (OS) from 1 and 2 L therapy among patients with any HIF‐2α gene mutation was 14.5 (95% CI: 11.5–24.2) and 9.3 (95% CI: 6.0–18.1) months, respectively, compared with 13.4 (95% CI: 12.9–13.9) and 9.8 (95% CI: 9.3–10.4) months among patients without HIF‐2α gene mutations. Discussion and Conclusions The prevalence of HIF‐2α related gene mutations was generally low (<1%) across the 15 solid tumor types, except for VHL in RCC. No significant association between HIF‐2α gene mutation status and OS was identified among patients evaluated in this study.
Bibliografie:	ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 14 content type line 23 ObjectType-Undefined-3
ISSN:	2045-7634 2045-7634
DOI:	10.1002/cam4.7358