Int J Med Sci 2020; 17(1):89-96. doi:10.7150/ijms.39056

Research Paper

Identification of gene expression profiles and immune cell infiltration signatures between low and high tumor mutation burden groups in bladder cancer

Zonglong Wu1*, Muru Wang2*, Qinggang Liu1, Yaxiao Liu1, Kejia Zhu1, Lipeng Chen1, Hongda Guo1, Yan Li1✉, Benkang Shi1✉

1. Department of Urology, Qilu Hospital of Shandong University, Jinan, China
2. Division of Gastroenterology, Tongji Hospital, Huazhong University of Science and Technology, Wuhan, China
*Zonglong Wu and Muru Wang contributed equally to this article.

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Citation:
Wu Z, Wang M, Liu Q, Liu Y, Zhu K, Chen L, Guo H, Li Y, Shi B. Identification of gene expression profiles and immune cell infiltration signatures between low and high tumor mutation burden groups in bladder cancer. Int J Med Sci 2020; 17(1):89-96. doi:10.7150/ijms.39056. Available from http://www.medsci.org/v17p0089.htm

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Abstract

Bladder cancer is one of the most commonly diagnosed tumors and is results from the accumulation of somatic mutations in the DNA. Tumor mutation burden (TMB) has been associated with cancer immunotherapeutic response. In this study, we attempted to explore the correlation between TMB and cancer prognosis. Identify the different expressed genes and immune cell infiltration signatures between low and high TMB group. Mutation data, gene expression profiles and clinical data were downloaded from The Cancer Genome Atlas (TCGA) database. Patients were divided into high and low TMB groups, allowing differentially expressed genes (DEGs) to be identified. Functional enrichment and protein-protein interaction (PPI) network analysis were used to identify the functions of the DEGs. And immune cell infiltration signatures were evaluated by CIBERSORT algorithm. These results shown that high TMB was significantly associated with prognosis. We obtained a list of TMB related genes which may influence the infiltrations of immune cells. We also found a higher proportion of CD8 T cells, CD4 T cells and NK cells in the high TMB group. Our data suggest that higher TMB tends to promote the infiltrations of T cells and NK cells and patients with higher TMB may achieve a more favorable prognosis in bladder cancer.

Keywords: tumor mutation burden, bladder cancer, gene expression profile, immune cell, TCGA database