Significance of PBRM1 mutation in disease progress and drug selection in clear cell renal cell carcinoma

ABSTRACT

Clear cell renal cell carcinoma (ccRCC) is the predominant type of kidney cancer, and the mutation of PBRM1 (Polybromo 1) gene is a commonly observed genetic alteration. The high frequency of PBRM1 mutation in ccRCC suggests its potential use as a biomarker for personalized therapy. In this study, we aimed to investigate the significance of PBRM1 mutation in disease progression and drug sensitivity in ccRCC. Additionally, we analyzed the critical pathways and genes associated with PBRM1 mutation to understand its potential mechanisms. Our findings show that PBRM1 mutation was observed in 38% of ccRCC patients and correlated with advanced disease stages. We also identified selective inhibitors for ccRCC with PBRM1 mutation using online databases such as PD173074 and AGI-6780. Furthermore, we identified 1253 genes as differentially expressed genes (DEGs) that were significantly enriched in categories such as metabolic progression, cell proliferation, and development. Although PBRM1 mutation did not show an association with ccRCC prognosis, a lower PBRM1 expression level correlated with worsened prognosis. Our study provides insights into the association of PBRM1 mutation with disease progression in ccRCC and suggests potential gene and signaling pathways for personalized treatment in ccRCC with PBRM1 mutation.

KEYWORDS:

• PBRM1 mutation
• clear cell renal cell carcinoma
• TCGA
• RNA sequencing
• bioinformatics analysis

Disclosure statement

No potential conflict of interest was reported by the authors.

Data Sharing Agreement

The datasets generated during and/or analysed during the current study are available from the corresponding author on reasonable request.

Additional information

Funding

The author(s) reported thereis no funding associated with the work featured in this article.

Notes on contributors

Donghua He

Donghua He, works in Department of Anesthesiology in Huashan Hospital. He focuses on diverse cancers, such as urologic cancers.

Tianyan Ma

Tianyan Ma, is a nurse in Huashan hospital. She Works in the operation room and focuses on the mechniams of initiation of diverse cancers.

Ni Yi

Ni Yi, is a nurse in Shanghai cancer centre and she works on some specific cancers.

Sijie Zhang

Sijie Zhang, is a college student in UBC and works on the initiation of urologic cancers.

Guanxiong Ding

Guanxiong Ding, is a Urologist in Huashan hospital and focuses on urologic cancers.