Exploration of immune-related genes in high and low tumor mutation burden groups of chromophobe renal cell carcinoma

Renal cell carcinoma (RCC) is one of most common cancers with gradually increasing inci-dence and high mortality. Chromogenic RCC (chRCC) is the third most common histological subtype of RCC, accounting for approximately 5-7% of RCC. In our study, the transcrip-tome expression profile data (n=89) of chRCC, corresponding clinical data (n=113) and the somatic mutation data (n=66) were obtained from the TCGA database. We first analyzed the mutation data of chRCC patients and divided chRCC patients into high and low tumor mutation burden (TMB) groups based on the median TMB. We found that high TMB was sig-nificantly associated with worse prognosis and could promote tumor metastasis and devel-opment. Moreover, four different immune-related genes (BIRC5, PDGFRL, INHBE, IL20RB) were also identified. We found that BIRC5 was significantly overexpressed in the high TMB group and correlated with worse prognosis. The results of univariate and multivariate COX analyses demonstrated that BIRC5 (hazard ratio (HR) = 2.094) may serve as a prognos-tic indicator for patients with chRCC with high TMB. In addition, we identified the possible functional pathways of BIRC5 through gene set enrichment analysis (GSEA) enrichment. A positive correlation was obtained between BIRC5 and the abundance of CD4(+) T cells. The results of our study revealed their correlation between the immune-related genes and clini-copathologic features as well as potential functional pathways as well as immune infiltrating cells, which may provide more data about the development of chRCC immunotherapy.