直肠拭子样本中的四基因panel 作为结直肠癌筛查的生物标志物。

A Four-Gene Panel in Rectal Swab Samples as a Biomarker for Colorectal Cancer Screening.

机构信息

Department of Surgery, School of Clinical Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong SAR, China.

出版信息

Cells. 2024 May 28;13(11):930. doi: 10.3390/cells13110930.

DOI:10.3390/cells13110930

PMID:38891062

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11171518/

Abstract

BACKGROUND

The dysregulation of gene expression is one of the key molecular features of colorectal cancer (CRC) development. This study aimed to investigate whether such dysregulation is reflected in rectal swab specimens of CRC patients and to evaluate its potential as a non-invasive approach for screening.

METHODS

We compared the expression level of 14 CRC-associated genes in tumor and adjacent non-tumor tissue of CRC patients and examined the correlation of their levels in tissue with paired rectal swab specimens. The level of these 14 genes in rectal swab specimens was compared among patients with CRC or polyp and control subjects, and the diagnostic potential of each dysregulated gene and the gene panel were evaluated.

RESULTS

The expression of , , , , , , , , , and was significantly higher in CRC, and there was a significant correlation in the levels of most of them between the CRC and rectal swab specimens. In the training study, we showed that , , and levels were significantly higher in the rectal swab specimens of the CRC patients. Such result was confirmed in the validation study. A panel of these four genes was developed, and ROC analysis showed that this four-gene panel could identify CRC patients with an AUC value of 0.83 and identify overall polyp and precancerous adenoma patients with AUC values of 0.6522 and 0.7322, respectively. Finally, the predictive study showed that the four-gene panel demonstrated sensitivities of 63.6%, 76.9% and 88.9% in identifying overall polyp, precancerous adenoma and CRC patients, respectively, whereas the specificity for normal subjects was 72.2%.

CONCLUSION

The expression of CRC-associated genes in rectal swab specimens reflects the dysregulation status in colorectal tissue, and the four-gene panel is a potential non-invasive biomarker for early precancerous adenoma and CRC screening.

摘要

背景

基因表达失调是结直肠癌（CRC）发展的关键分子特征之一。本研究旨在探讨这种失调是否反映在 CRC 患者的直肠拭子标本中，并评估其作为筛查的非侵入性方法的潜力。

方法

我们比较了 CRC 患者肿瘤和相邻非肿瘤组织中 14 个 CRC 相关基因的表达水平，并检查了它们在组织和配对直肠拭子标本中的水平相关性。比较了 CRC 或息肉患者与对照组直肠拭子标本中这 14 个基因的水平，并评估了每个失调基因和基因组合的诊断潜力。

结果

在 CRC 中，、、、、、、、、和的表达明显升高，其中大多数基因在 CRC 和直肠拭子标本中的水平存在显著相关性。在训练研究中，我们发现 CRC 患者直肠拭子标本中的、、和水平明显升高。在验证研究中也得到了证实。开发了一个由这四个基因组成的基因组合，ROC 分析表明，该四基因组合可以识别 CRC 患者，AUC 值为 0.83，以及识别总体息肉和癌前腺瘤患者，AUC 值分别为 0.6522 和 0.7322。最后，预测研究表明，该四基因组合在识别总体息肉、癌前腺瘤和 CRC 患者时的敏感性分别为 63.6%、76.9%和 88.9%，而对正常受试者的特异性为 72.2%。