Expression and clinical signiflcance of VHL，PBRM1，BAP1，SETD2 genes in clear cell renal cell carcinoma

doi:10.3877/cma.j.issn.1674-3253.2025.02.013

Abstract

Abstract:

Objective

To investigate the expression and clinicopathological significance of VHL，PBRM1，BAP1 and SETD2 genes in clear cell renal cell carcinoma （ccRCC）.

Methods

104 cases of ccRCC primary tissue and adjacent normal renal tubular tissue samples were collected from the Department of Pathology at Huizhou Central People's Hospital from Jannary 1，2016 to December 31，2021，the expression levels of VHL，PBRM1，BAP1 and SETD2 proteins were detected by immunohistochemistry.Then the correlation and clinicopathological features and prognosis of VHL，PBRM1，BAP1 and SETD2 protein expression in ccRCC were analyzed by statistical techniques.

Results

The positive rates of VHL，PBRM1，BAP1 and SETD2 expression in ccRCC tissues were 51.92%，85.58%，60.58% and 60.58%，respectively，while in normal renal tubular tissues were 89.42%，98.08%，98.08% and 99.04%，the positive rates of these proteins in ccRCC were significantly lower than those of adjacent normal renal tubular tissue （P＜0.001）.Analysis of the correlation between protein expression and clinicopathological characteristics of ccRCC showed that BAP1 and SETD2 negative expression was associated with tumor maximum diameter ＞ 4 cm and TNM stage III-IV （P＜0.05），and BAP1 negative expression was also associated with vascular invasion （P=0.001）.VHL expression deletion accounted for a high proportion of tumors without hemorrhage and necrosis （P=0.009）.Kaplan-Meier analysis showed that the recurrencefree survival of ccRCC patients was negatively correlated with BAP1 loss （P=0.023）.Correlation analysis showed that VHL expression was correlated with BAP1 and SETD2 （r=0.470 and 0.269，both P＜0.05） and SETD2 was correlated with PBRM1 and BAP1 （r=0.244 and 0.357，both P＜0.05）.

Conclusion

The expression of VHL，PBRM1，BAP1，and SETD2 were lost in ccRCC，and there were correlations between different gene expressions.The negative expression of BAP1 and SETD2 was associated with tumor size，high stage，and invasion and metastasis in ccRCC，suggesting that they were potential poor prognostic factors.BAP1 negativie expression may be a prognostic factor for ccRCC patients，with shorter recurrencefree survival，and could be used as new potential therapeutic targets for ccRCC.

Key words: Clear cell renal cell carcinoma, Molecular biology of tumors, VHL, PBRM1, BAP1, SETD2

Lihua Zeng, Biyun Lin, Minyi Cai, Zhijun Yi, Xiaobing Wang, Yuanzhi Lu. Expression and clinical signiflcance of VHL，PBRM1，BAP1，SETD2 genes in clear cell renal cell carcinoma[J]. Chinese Journal of Endourology(Electronic Edition), 2025, 19(02): 198-204.

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References 25

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