Zheng Lei, Zhan Yang, Lu Jia, Hu Jun, Kong Dalu
Department of Colorectal Oncology, National Clinical Research Center for Cancer, Key Laboratory of Cancer Prevention and Therapy of Tianjin, Tianjin's Clinical Research Center for Cancer, Tianjin Medical University Cancer Institute and Hospital, Tianjin, China.
Department of Infection Management, National Clinical Research Center for Cancer, Key Laboratory of Cancer Prevention and Therapy of Tianjin, Tianjin's Clinical Research Center for Cancer, Tianjin Medical University Cancer Institute and Hospital, Tianjin, China.
Ann Transl Med. 2021 Apr;9(8):680. doi: 10.21037/atm-21-1010.
Colorectal cancer (CRC) is a malignant tumor that seriously threatens human health. A CRC predictive model can be used as an effective method to provide an appropriate treatment for CRC patients.
A total of 34 CRC patients were enrolled in this study. After performing 1000-gene panel targeted next-generation sequencing (NGS), high-frequency mutation genes were screened, and their functional terms and pathways were enriched. In The Cancer Genome Atlas (TCGA) CRC cases, the risk factors for overall survival (OS) were screened by univariate and multivariate analysis, and a predictive model was constructed and verified. Subsequently, the relationship among mutation status, gene expression, methylation level, and OS was analyzed to explore the molecular mechanism of CRC progression.
A total of 26 high-frequency mutation genes were screened, which were mainly enriched in breast cancer and proteoglycans in cancer pathways. The clinical parameters of age, stage, recurrence and metastasis, the mutation status of , , , , and were identified as risk factors for the construction of the predictive model. The areas under the receiver operating characteristic curve were 0.734, 0.754, 0.774, and 0.74 for 1-, 3-, 5- and 7-year survival in the model group, respectively.
We identified several mutated genes and clinical parameters affecting OS and established a model to better predict the OS of CRC patients.
结直肠癌（CRC）是一种严重威胁人类健康的恶性肿瘤。结直肠癌预测模型可作为为结直肠癌患者提供合适治疗的有效方法。
本研究共纳入34例结直肠癌患者。进行1000基因panel靶向二代测序（NGS）后，筛选高频突变基因，并对其功能术语和通路进行富集。在癌症基因组图谱（TCGA）结直肠癌病例中，通过单因素和多因素分析筛选总生存（OS）的危险因素，构建并验证预测模型。随后，分析突变状态、基因表达、甲基化水平与OS之间的关系，以探索结直肠癌进展的分子机制。
共筛选出26个高频突变基因，主要富集于乳腺癌和癌症途径中的蛋白聚糖。年龄、分期、复发和转移等临床参数，以及 、 、 、 和 的突变状态被确定为构建预测模型的危险因素。模型组1年、3年、5年和7年生存的受试者工作特征曲线下面积分别为0.734、0.754、0.774和0.74。
我们鉴定了几个影响OS的突变基因和临床参数，并建立了一个模型以更好地预测结直肠癌患者的OS。
