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中华结直肠疾病电子杂志 ›› 2026, Vol. 15 ›› Issue (03) : 274 -281. doi: 10.3877/cma.j.issn.2095-3224.2026.03.011

综述

液体活检主要生物标志物在结直肠癌中的研究进展
傅书强, 王宏刚()   
  1. 225300 南京医科大学附属泰州人民医院胃肠外科
  • 收稿日期:2026-01-08 出版日期:2026-06-25
  • 通信作者: 王宏刚
  • 基金资助:
    江苏省卫生健康委面上项目(M2025006)

Advances in the major liquid biopsy biomarkers for colorectal cancer

Shuqiang Fu, Honggang Wang()   

  1. Department of Gastrointestinal Surgery, the Affiliated Taizhou People’s Hospital of Nanjing Medical University, Taizhou 225300, China
  • Received:2026-01-08 Published:2026-06-25
  • Corresponding author: Honggang Wang
引用本文:

傅书强, 王宏刚. 液体活检主要生物标志物在结直肠癌中的研究进展[J/OL]. 中华结直肠疾病电子杂志, 2026, 15(03): 274-281.

Shuqiang Fu, Honggang Wang. Advances in the major liquid biopsy biomarkers for colorectal cancer[J/OL]. Chinese Journal of Colorectal Diseases(Electronic Edition), 2026, 15(03): 274-281.

结直肠癌是我国常见恶性肿瘤之一,疾病负担较重。受早期筛查不足等因素影响,部分患者确诊时已处于中晚期,预后改善仍面临较大挑战。液体活检以血液等体液为样本,通过检测循环肿瘤细胞(CTCs)、循环肿瘤DNA(ctDNA)及肿瘤教化血小板(TEPs)等主要生物标志物,可在一定程度上动态反映肿瘤相关分子特征。现阶段,液体活检更适合作为结肠镜的补充工具,主要应用于筛查分流、术后微小残留病灶监测和复发风险评估,尚不能替代结肠镜。现有证据显示,ctDNA研究基础相对较好,在微小残留病灶监测和辅助治疗决策方面最接近临床应用;CTCs可提供细胞形态和部分功能信息,但受低丰度、高异质性及检测标准不统一等因素影响,临床推广仍受限;TEPs取样方便、RNA信息较丰富,但相关证据仍需进一步积累。未来仍需围绕提高早期检出率、统一检测流程、控制检测成本和加强前瞻性研究等方面推进,并进一步明确其在不同临床场景中的应用价值。

Colorectal cancer remains one of the most common malignancies in China and continues to impose a heavy disease burden. Because early screening is still insufficient in some populations, a proportion of patients are already at an advanced stage at diagnosis, and further improving prognosis remains difficult. Liquid biopsy uses blood or other body fluid samples to detect tumor-related information, mainly through biomarkers such as circulating tumor cells (CTCs), circulating tumor DNA (ctDNA), and tumor-educated platelets (TEPs). At the current stage, liquid biopsy should be viewed more as a useful supplement to colonoscopy rather than as a replacement. Clinically, liquid biopsy may find applications in screening triage, postoperative monitoring of minimal residual disease, and recurrence risk assessment. Among the circulating biomarkers, ctDNA is supported by more robust evidence and is closer to clinical translation, particularly in minimal residual disease detection and adjuvant treatment decision-making. CTCs can offer cellular-level information on tumour morphology and function, but their clinical use remains constrained by low abundance, pronounced heterogeneity, and a lack of assay standardisation. Tumour-educated platelets are readily accessible and carry abundant RNA-related information; however, their clinical value still awaits confirmation in larger, well-designed studies. Future efforts should prioritise improving the sensitivity of early detection, establishing standardised testing workflows, reducing costs, and conducting prospective investigations, so that the role of liquid biopsy can be more clearly delineated across different clinical scenarios.

表1 液体活检和传统组织活检的比较
表2 液体活检的特点
图1 液体活检的类型和临床应用。(本图由作者使用https://www.figdraw.com/绘制)注:液体活检样本最常通过血液采集获得,也可来源于尿液、脑脊液、腹腔积液和胸腔积液。从中可分离ctDNA、CTCs、TEPs等成分,获取蛋白质表达及甲基化等信息,为后续临床应用提供指导
表3 ctDNA分析中ddPCR和NGS技术比较
表4 ctDNA甲基化标志物在结直肠癌早期检测中的应用
表5 结直肠癌临床常用检查手段与液体活检的比较
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