Shen Yong, Jiang Binbin, Luo Yingbo, Zhang Zhiwei
Department of Breast Surgery, The Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang, China.
Cancer Institute (Key Laboratory of Cancer Prevention and Intervention, China National Ministry of Education, Key Laboratory of Molecular Biology in Medical Sciences, Zhejiang Province), The Second Affiliated Hospital, School of Medicine, Zhejiang University, Hangzhou, Zhejiang, China.
Medicine (Baltimore). 2025 Jan 31;104(5):e41369. doi: 10.1097/MD.0000000000041369.
This study aimed to devise a breast cancer (BC) risk signature for based on pyrimidine metabolism-related genes (PMRGs) to evaluate its prognostic value and association with drug sensitivity. Transcriptomic and clinical data were retrieved from The Cancer Genome Atlas database and Gene Expression Omnibus repository. Pyrimidine metabolism-associated genes were identified from the Molecular Signatures Database collection. A risk signature was constructed through Cox regression and Lasso regression methods. Further, the relationship between the PMRG-derived risk feature and clinicopathological characteristics, gene expression patterns, somatic mutations, drug susceptibility, and tumor immune microenvironment was thoroughly investigated, culminating in the development of a nomogram. PMRGs displayed differential expression and diverse somatic mutations in BC. Univariate Cox analysis identified 36 genes significantly associated with BC prognosis, leading to the categorization of 2 BC molecular subtypes with discernible differences in prognosis. Using Lasso Cox regression, a risk signature composed of 16 PMRGs was established, wherein high-risk scores were indicative of poor prognosis. The PMRG-derived risk feature was also related to chemotherapy regimens and showed significant correlations with sensitivity to multiple drugs. Furthermore, distinct tumor immune microenvironment properties, gene expression profiles, and somatic mutation patterns were evident across varying risk scores. Ultimately, a nomogram was constructed incorporating the PMRGs-based risk signature alongside stage, and chemotherapy status, demonstrating excellent performance in prognosis prediction. We successfully developed a PMRG-based BC risk signature that effectively combines with clinicopathological attributes for accurate prognosis assessment in BC.
本研究旨在基于嘧啶代谢相关基因(PMRGs)设计一种乳腺癌(BC)风险特征,以评估其预后价值以及与药物敏感性的关联。转录组学和临床数据从癌症基因组图谱数据库和基因表达综合数据库中获取。从分子特征数据库集合中鉴定出嘧啶代谢相关基因。通过Cox回归和套索回归方法构建风险特征。此外,深入研究了PMRG衍生的风险特征与临床病理特征、基因表达模式、体细胞突变、药物敏感性和肿瘤免疫微环境之间的关系,最终开发出一种列线图。PMRGs在乳腺癌中表现出差异表达和多样的体细胞突变。单变量Cox分析确定了36个与乳腺癌预后显著相关的基因,从而将乳腺癌分为2种分子亚型,其预后存在明显差异。使用套索Cox回归,建立了一个由16个PMRGs组成的风险特征,其中高风险评分表明预后不良。PMRG衍生的风险特征也与化疗方案相关,并与对多种药物的敏感性显著相关。此外,在不同风险评分中,明显存在不同的肿瘤免疫微环境特性、基因表达谱和体细胞突变模式。最终,构建了一个列线图,将基于PMRGs的风险特征与分期和化疗状态相结合,在预后预测方面表现出色。我们成功开发了一种基于PMRG的乳腺癌风险特征,该特征有效地与临床病理特征相结合,用于准确评估乳腺癌的预后。