Suppr超能文献

基于 、 和 突变的结直肠癌患者预后模型

Prognosis model of colorectal cancer patients based on , , and mutations.

作者信息

Liu Kai, Wang Jie-Fu, Zhan Yang, Kong Da-Lu, Wang Cui

机构信息

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.

出版信息

J Gastrointest Oncol. 2021 Feb;12(1):79-88. doi: 10.21037/jgo-21-28.

Abstract

BACKGROUND

Colorectal cancer (CRC) is one of the most common cancers. The aim of our study was to explore its related mutations, identify novel mutation markers, and construct predictive models for postoperative CRC patients, so as to provide evidence for the diagnosis, treatment, and prognosis of CRC.

METHODS

A total 50 CRC patients were collected, and the mutations in tissue samples were detected through next-generation sequencing (NGS). Meanwhile, 246 CRC cases with complete mutation data were downloaded from The Cancer Genome Atlas (TCGA) database. Afterwards, the co-mutations in both clinical and TCGA cohorts were identified, and the high-frequency mutation genes were selected. Subsequently, functional enrichment analysis was performed, and overall survival (OS) and progression-free survival (PFS) predictive models were constructed.

RESULTS

In all, 18 out of 238 co-mutation genes mutated in at least 20% of the samples and were selected out as common high-frequency mutation genes. They were significantly enriched in 460 Gene Ontology (GO) terms and 87 Kyoto Encyclopedia of Genes and Genomes (KEGG) pathways (P<0.05), which were closely related to the occurrence and development of CRC. Among the 18 genes, , histone lysine methyltransferase 2C (), and cAMP-response element binding protein-BP () were respectively associated with tumor position, stage, and PFS (P<0.05), and could be considered as potential biomarkers of CRC. Finally, OS and PFS predictive models were constructed and verified using the 50 clinical cases, with both models demonstrating high fitting degrees useful for predicting the OS and PFS of CRC patients.

CONCLUSIONS

, , and were found to be prospective biomarkers for the diagnosis and prognosis of CRC. The prognosis prediction models had high sensitivity and could be used to predict the OS and PFS of CRC patients.

摘要

背景

结直肠癌(CRC)是最常见的癌症之一。本研究的目的是探索其相关突变,识别新的突变标志物,并为CRC术后患者构建预测模型,从而为CRC的诊断、治疗和预后提供依据。

方法

共收集50例CRC患者,通过二代测序(NGS)检测组织样本中的突变。同时,从癌症基因组图谱(TCGA)数据库下载246例具有完整突变数据的CRC病例。之后,确定临床队列和TCGA队列中的共突变,选择高频突变基因。随后进行功能富集分析,并构建总生存期(OS)和无进展生存期(PFS)预测模型。

结果

在238个共突变基因中,共有18个在至少20%的样本中发生突变,并被选为常见的高频突变基因。它们在460个基因本体论(GO)术语和87条京都基因与基因组百科全书(KEGG)通路中显著富集(P<0.05),这些通路与CRC的发生和发展密切相关。在这18个基因中,组蛋白赖氨酸甲基转移酶2C()和环磷酸腺苷反应元件结合蛋白BP()分别与肿瘤位置、分期和PFS相关(P<0.05),可被视为CRC的潜在生物标志物。最后,使用50例临床病例构建并验证了OS和PFS预测模型,两个模型均显示出高拟合度,可用于预测CRC患者的OS和PFS。

结论

发现、和是CRC诊断和预后的前瞻性生物标志物。预后预测模型具有高敏感性,可用于预测CRC患者的OS和PFS。

相似文献

1
Prognosis model of colorectal cancer patients based on , , and mutations.
J Gastrointest Oncol. 2021 Feb;12(1):79-88. doi: 10.21037/jgo-21-28.
3
Comprehensive genomic profiling reveals prognostic signatures and insights into the molecular landscape of colorectal cancer.
Front Oncol. 2023 Nov 13;13:1285508. doi: 10.3389/fonc.2023.1285508. eCollection 2023.
4
Prognostic Model of Colorectal Cancer Constructed by Eight Immune-Related Genes.
Front Mol Biosci. 2020 Nov 27;7:604252. doi: 10.3389/fmolb.2020.604252. eCollection 2020.
6
Prognostic implications of metabolism-associated gene signatures in colorectal cancer.
PeerJ. 2020 Sep 2;8:e9847. doi: 10.7717/peerj.9847. eCollection 2020.
7
Association between histone lysine methyltransferase KMT2C mutation and clinicopathological factors in breast cancer.
Biomed Pharmacother. 2019 Aug;116:108997. doi: 10.1016/j.biopha.2019.108997. Epub 2019 May 27.

引用本文的文献

1
The modification role and tumor association with a methyltransferase: KMT2C.
Front Immunol. 2024 Aug 6;15:1444923. doi: 10.3389/fimmu.2024.1444923. eCollection 2024.
2
Identifying survival of pan-cancer patients under immunotherapy using genomic mutation signature with large sample cohorts.
J Mol Med (Berl). 2024 Jan;102(1):69-79. doi: 10.1007/s00109-023-02398-1. Epub 2023 Nov 18.
3
Circulating tumour DNA alterations: emerging biomarker in head and neck squamous cell carcinoma.
J Biomed Sci. 2023 Aug 9;30(1):65. doi: 10.1186/s12929-023-00953-z.
6
Prognostic significance of Notch3 immunoreactivity patterns in Caucasian colon adenocarcinoma patients.
Prz Gastroenterol. 2022;17(2):162-168. doi: 10.5114/pg.2022.116389. Epub 2022 May 19.

本文引用的文献

1
FAM225A facilitates colorectal cancer progression by sponging miR-613 to regulate NOTCH3.
Cancer Med. 2020 Jun;9(12):4339-4349. doi: 10.1002/cam4.3053. Epub 2020 Apr 28.
2
[Accurate diagnosis of colorectal cancer and precancerous diseases].
Zhonghua Nei Ke Za Zhi. 2020 Feb 1;59(2):145-147. doi: 10.3760/cma.j.issn.0578-1426.2020.02.010.
3
The somatic mutation landscape of Chinese Colorectal Cancer.
J Cancer. 2020 Jan 1;11(5):1038-1046. doi: 10.7150/jca.37017. eCollection 2020.
4
Cancer statistics, 2020.
CA Cancer J Clin. 2020 Jan;70(1):7-30. doi: 10.3322/caac.21590. Epub 2020 Jan 8.
5
[Chinese consensus of early colorectal cancer screening (2019, Shanghai)].
Zhonghua Nei Ke Za Zhi. 2019 Oct 1;58(10):736-744. doi: 10.3760/cma.j.issn.0578-1426.2019.10.004.
6
Association between histone lysine methyltransferase KMT2C mutation and clinicopathological factors in breast cancer.
Biomed Pharmacother. 2019 Aug;116:108997. doi: 10.1016/j.biopha.2019.108997. Epub 2019 May 27.
7
The Carcinogenic Role of the Notch Signaling Pathway in the Development of Hepatocellular Carcinoma.
J Cancer. 2019 Feb 26;10(6):1570-1579. doi: 10.7150/jca.26847. eCollection 2019.

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型,支持多种主流文档格式。

立即体验