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

Abstract

Renal cell carcinoma (RCC) is one of most common cancer with gradually increasing incidence and high mortality. chromogenic RCC (chRCC) is the third most common histological subtype of RCC, accounting for about 5-7% of RCC. In our study, the transcriptome expression profile data (n=89) of chRCC, corresponding clinical data (n=113) and the somatic mutation data (n=66) was 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 significantly associated with worse prognosis and could promote tumor metastasis and development. 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 result of univariate and multivariate COX analysis demonstrated that BIRC5 (HR=2.094) may serve as a prognostic indicator for patients with chRCC with high TMB. In addition, we identified the possible functional pathways of BIRC5 through GSEA enrichment. A positive correlation was obtained between BIRC5 and the abundance of CD4 + T cells. The result of our study revealed their correlation between the immune-related genes and clinicopathologic features as well as potential functional pathways as well as immune infiltrating cells, which may provide more data about the development of chRCC immunotherapy.

A Bioinformatics Model of Human Diseases on the Basis of Differentially Expressed Genes (of Domestic Versus Wild Animals) That Are Orthologs of Human Genes Associated with Reproductive-Potential Changes

“…Human gene PDGFRL (platelet-derived growth factor receptor–like protein) underexpression reduces tumor mutation burden [ 67 ], thus raising reproductive potential consistently with the cavy ortholog expression alteration during microevolution [ 29 ], whereas a PDGFRL excess leads to hypertensive behavior and myocardial hypertrophy [ 68 ] ( Table 2 ).…”

Fusobacterium Nucleatum Predicts a Risk for Esophageal Squamous Cell Carcinoma

“…Previous clinical trials in multiple tumors have also shown that there is a positive correlation between TMB and the e cacy of PD-1/PD-L1 inhibitors and a trend toward longer PFS(47-49). Li et al found that a high TMB was signi cantly associated with a worse prognosis and could promote tumor metastasis and development (50). Our results showed that the presence of F. nucleatum in tumors and the TMB could be combined to predict postoperative metastasis in esophageal cancer.…”

­­Prognostic analysis of tumor mutation burden combined with immune infiltration of Thymic epithelial tumors

“…TMB is a new type of biomarker for cancers, which has proven e cacy in a variety of cancers, such as breast cancers, lung cancers, and colorectal cancers. Li et al [14] found that high-TMB was associated with a worse prognosis, and it could promote tumor metastasis and development in patients with chromophobe cell carcinoma (chRCC). Zhang et al [15] also reported that, the high-TMB patients showed poorer survival results, higher pathological stages and higher tumor grade in patients with clear renal cell carcinomas when compared with the low-TMB group.…”