Academic Unit of Surgery, School of Medicine, University of Glasgow, United Kingdom.
Wolfson Wohl Cancer Research Centre, Institute of Cancer Sciences, University of Glasgow, United Kingdom.
Crit Rev Oncol Hematol. 2021 Aug;164:103421. doi: 10.1016/j.critrevonc.2021.103421. Epub 2021 Jul 9.
Despite conventional measures of future polyp risk (histology, dysplasia, size, number), surveillance places a burden on patients and colonoscopy services. We aimed to review novel risk stratification techniques.
A systematic literature review was performed for studies using genomics, transcriptomics, IHC or microbiome as markers of metachronous polyp risk.
4165 papers underwent title, 303 abstract and 215 full paper review. 25 papers were included. 49 mutations/ SNPs/ haplotypes in 23 genes/ chromosomal regions (KRAS, APC, EGFR, COX1/2, IL23R, DRD2, CYP2C9/24A1/7A1, UGT1A6, ODC, ALOX12/15, PGDH, SRC, IGSF5, KCNS3, EPHB1/ KY, FAM188b, 3p24.1, 9q33.2, 13q33.2) correlated with metachronous adenoma / advanced adenoma risk. Expression levels of 6 proteins correlated with metachronous adenoma (p53, β-catenin, COX2, Adnab-9, ALDH1A1) or sessile serrated polyp (ANXA10) risk.
Although genomic and IHC markers correlated with metachronous polyp risk, it seems likely that a panel of novel markers will be required to refine this risk.
尽管存在未来息肉风险的常规评估方法（组织学、异型增生、大小、数量），但监测给患者和结肠镜检查服务带来了负担。我们旨在回顾新的风险分层技术。
对使用基因组学、转录组学、免疫组化或微生物组学作为同时性息肉风险标志物的研究进行了系统的文献回顾。
经过标题、303 篇摘要和 215 篇全文审查，有 4165 篇论文被筛选。共纳入 25 篇论文。23 个基因/染色体区域（KRAS、APC、EGFR、COX1/2、IL23R、DRD2、CYP2C9/24A1/7A1、UGT1A6、ODC、ALOX12/15、PGDH、SRC、IGSF5、KCNS3、EPHB1/KY、FAM188b、3p24.1、9q33.2、13q33.2）中的 49 个突变/SNPs/单倍型和 23 个基因/染色体区域（KRAS、APC、EGFR、COX1/2、IL23R、DRD2、CYP2C9/24A1/7A1、UGT1A6、ODC、ALOX12/15、PGDH、SRC、IGSF5、KCNS3、EPHB1/KY、FAM188b、3p24.1、9q33.2、13q33.2）与同时性腺瘤/高级别腺瘤风险相关。6 种蛋白质的表达水平与同时性腺瘤（p53、β-catenin、COX2、Adnab-9、ALDH1A1）或无蒂锯齿状息肉（ANXA10）风险相关。
尽管基因组和免疫组化标志物与同时性息肉风险相关，但似乎需要一组新的标志物来进一步细化这种风险。
