The First Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, 310003, Zhejiang Province, China.
BMC Urol. 2021 Feb 25;21(1):29. doi: 10.1186/s12894-021-00795-7.
The tumorigenesis of prostate cancer involves genetic mutations. Tumour mutational burden (TMB) is an emerging biomarker for predicting the efficacy of immunotherapy.
Single-nucleotide polymorphisms were the most common variant type, and C>T transversion was the most commonly presented type of single-nucleotide variant. The high-TMB group had lower overall survival (OS) than the low-TMB group. TMB was associated with age, T stage and N stage. Functional enrichment analysis of differentially expressed genes (DEGs) showed that they are involved in pathways related to the terms spindle, chromosomal region, nuclear division, chromosome segregation, cell cycle, oocyte meiosis and other terms associated with DNA mutation and cell proliferation. Six hub genes, PLK1, KIF2C, MELK, EXO1, CEP55 and CDK1, were identified. All the genes were associated with disease-free survival, and CEP55 and CDK1 were associated with OS.
The present study provides a comprehensive analysis of the significance of TMB and DEGs and infiltrating immune cells related to TMB, which provides helpful information for exploring the significance of TMB in prostate cancer.
前列腺癌的发生涉及基因突变。肿瘤突变负荷（TMB）是预测免疫治疗疗效的新兴生物标志物。
单核苷酸多态性是最常见的变异类型，C>T 颠换是最常见的单核苷酸变异类型。高 TMB 组的总生存期（OS）低于低 TMB 组。TMB 与年龄、T 分期和 N 分期相关。差异表达基因（DEGs）的功能富集分析表明，它们参与与术语纺锤体、染色体区域、核分裂、染色体分离、细胞周期、卵母细胞减数分裂和其他与 DNA 突变和细胞增殖相关的术语相关的途径。鉴定出六个枢纽基因 PLK1、KIF2C、MELK、EXO1、CEP55 和 CDK1。所有基因均与无病生存期相关，CEP55 和 CDK1 与 OS 相关。
本研究全面分析了 TMB 及与 TMB 相关的差异表达基因和浸润免疫细胞的意义，为探索 TMB 在前列腺癌中的意义提供了有价值的信息。
