Hospital of Chengdu University of Traditional Chinese Medicine, Chengdu, 610072, Sichuan, China.
Chengdu University of Traditional Chinese Medicine, Chengdu, 610072, Sichuan, China.
Sci Rep. 2022 Nov 4;12(1):18688. doi: 10.1038/s41598-022-23463-8.
Colorectal cancer (CRC) is a heterogeneous disease and one of the most prevalent malignancies worldwide. Previous research has demonstrated that mitophagy is crucial to developing colorectal cancer. This study aims to examine the association between mitophagy-related genes and the prognosis of CRC patients. Gene expression profiles and clinical information of CRC patients were obtained from The Cancer Genome Atlas (TCGA) and Gene Expression Omnibus (GEO) databases. Univariate Cox regression and the least absolute shrinkage and selection operator (LASSO) regression analysis were applied to establish a prognostic signature using mitophagy related genes. Kaplan-Meier and receiver operating characteristic (ROC) curves were used to analyze patient survival and predictive accuracy. Meanwhile, we also used the Genomics of Drug Sensitivity in Cancer (GDSC) database and Tumor Immune Dysfunction and Exclusion (TIDE) algorithm to estimate the sensitivity of chemotherapy, targeted therapy and immunotherapy. ATG14 overexpression plasmid was used to regulate the ATG14 expression level in HCT116 and SW480 cell lines, and cell counting kit-8, colony formation and transwell migration assay were performed to validate the function of ATG14 in CRC cells. A total of 22 mitophagy-driven genes connected with CRC survival were identified, and then a novel prognostic signature was established based on 10 of them (AMBRA1, ATG14, MAP1LC3A, MAP1LC3B, OPTN, VDAC1, ATG5, CSNK2A2, MFN1, TOMM22). Patients were divided into high-risk and low-risk groups based on the median risk score, and the survival of patients in the high-risk group was significantly shorter in both the training cohort and two independent cohorts. ROC curve showed that the area under the curves (AUC) of 1-, 3- and 5-year survival were 0.66, 0.66 and 0.64, respectively. Multivariate Cox regression analysis confirmed the independent prognostic value of the signature. Then we constructed a Nomogram combining the risk score, age and M stage, which had a concordance index of survival prediction of 0.77 (95% CI 0.71-0.83) and more robust predictive accuracy. Results showed that CD8+ T cells, regulatory T cells and activated NK cells were significantly more enriched in the high-risk group. Furthermore, patients in the high-risk group are more sensitive to targeted therapy or chemotherapy, including bosutinib, elesclomol, lenalidomide, midostaurin, pazopanib and sunitinib, while the low-risk group is more likely to benefit from immunotherapy. Finally, in vitro study confirmed the oncogenic significance of ATG14 in both HCT116 and SW480 cells, whose overexpression increased CRC cell proliferation, colony formation, and migration. In conclusion, we developed a novel mitophagy-related gene signature that can be utilized not only as an independent predictive biomarker but also as a tool for tailoring personalizing treatment for CRC patients, and we confirmed ATG14 as a novel oncogene in CRC.
结直肠癌(CRC)是一种异质性疾病,也是全球最常见的恶性肿瘤之一。先前的研究表明,线粒体自噬对于结直肠癌的发生发展至关重要。本研究旨在探讨线粒体自噬相关基因与 CRC 患者预后的关系。从癌症基因组图谱(TCGA)和基因表达综合数据库(GEO)中获取 CRC 患者的基因表达谱和临床信息。应用单因素 Cox 回归和最小绝对值收缩和选择算子(LASSO)回归分析,基于线粒体自噬相关基因构建预后模型。Kaplan-Meier 生存曲线和受试者工作特征(ROC)曲线用于分析患者的生存和预测准确性。同时,我们还使用癌症药物敏感性基因组学(GDSC)数据库和肿瘤免疫功能障碍和排斥(TIDE)算法来估计化疗、靶向治疗和免疫治疗的敏感性。使用 ATG14 过表达质粒调控 HCT116 和 SW480 细胞系中的 ATG14 表达水平,通过细胞计数试剂盒-8(CCK-8)、集落形成和 Transwell 迁移实验验证 ATG14 在 CRC 细胞中的功能。确定了 22 个与 CRC 生存相关的线粒体自噬驱动基因,然后基于其中的 10 个基因(AMBRA1、ATG14、MAP1LC3A、MAP1LC3B、OPTN、VDAC1、ATG5、CSNK2A2、MFN1、TOMM22)建立了一个新的预后模型。根据中位风险评分将患者分为高风险组和低风险组,在训练队列和两个独立队列中,高风险组患者的生存均明显更短。ROC 曲线显示,1 年、3 年和 5 年生存率的 AUC 分别为 0.66、0.66 和 0.64。多因素 Cox 回归分析证实了该模型的独立预后价值。然后,我们构建了一个包含风险评分、年龄和 M 期的列线图,其生存预测的一致性指数为 0.77(95%CI 0.71-0.83),具有更稳健的预测准确性。结果表明,高风险组中 CD8+T 细胞、调节性 T 细胞和活化 NK 细胞明显更为富集。此外,高风险组患者对靶向治疗或化疗更敏感,包括博舒替尼、依立替康、来那度胺、米哚妥林、帕唑帕尼和舒尼替尼,而低风险组患者更可能受益于免疫治疗。最后,体外研究证实了 ATG14 在 HCT116 和 SW480 细胞中的致癌作用,其过表达增加了 CRC 细胞的增殖、集落形成和迁移。总之,我们开发了一种新的线粒体自噬相关基因标志物,不仅可以作为独立的预测生物标志物,还可以作为为 CRC 患者制定个性化治疗方案的工具,并证实了 ATG14 是 CRC 中的一种新的致癌基因。