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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Vydané v:Cancer medicine (Malden, MA) Ročník 13; číslo 11; s. e7358 - n/a
Hlavní autori: Zhong, Wenjun, Ma, Jiemin, Chen, Cai, Dettman, E. J., Cristescu, Razvan, Naik, Girish S., Jin, Fan, Shao, Changxia
Médium: Journal Article
Jazyk:English
Vydavateľské údaje: United States John Wiley & Sons, Inc 01.06.2024
John Wiley and Sons Inc
Wiley
Predmet:
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.
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ISSN:2045-7634
2045-7634
DOI:10.1002/cam4.7358