循环肿瘤DNA检测微小残留病灶在结肠直肠癌肝转移中的应用进展

摘要/Abstract

摘要：

循环肿瘤DNA(ctDNA)作为一种非侵入性生物标志物，能敏感地识别微小残留病灶(MRD)，可提早发现复发转移，为结肠直肠癌肝转移(CRLM)病人的预后预测和疗效评估提供了新方法，有助于指导个性化治疗方案的制定。本文归纳了ctDNA检测MRD在CRLM中的应用进展，并对其未来发展方向加以展望。

关键词:结肠直肠癌肝转移,循环肿瘤DNA,微小残留病灶,预后预测,疗效评估

Abstract:

As a non-invasive biomarker, circulating tumor DNA (ctDNA) can sensitively identify minimal residual disease (MRD), offering a novel approach for prognosis prediction and efficacy evaluation in patients with colorectal cancer liver metastasis (CRLM), thereby aiding in the formulation of personalized treatment strategies. This article summarized the progress in the application of ctDNA detection for MRD in CRLM and provided insights into its future directions.

Key words:Colorectal cancer liver metastasis(CRLM),Circulating tumor DNA(ctDNA),Minimal residual disease(MRD),Prognostic prediction,Efficacy evaluation

中图分类号:

李雅琪, 莫少波, 彭俊杰. 循环肿瘤DNA检测微小残留病灶在结肠直肠癌肝转移中的应用进展[J]. 外科理论与实践, 2025, 30(04): 351-357.

LI Yaqi, MO Shaobo, PENG Junjie. Progression in circulating tumor DNA detection for minimal residual disease in patients with colorectal cancer liver metastasis[J]. Journal of Surgery Concepts & Practice, 2025, 30(04): 351-357.

图/表1

Technical route	Tumor-informed assay	Tumor-agnostic assay
Panel type	Whole exome or whole genome sequencing + personalized panel /multiple PCR	Non-personalized, fixed panel
Tumor tissue	Required	Not required
Detection genes	16-40 genes	200-500 genes
Detection level	Genomic	Genomic and epigenomic
Initial detection cycle	4-6 weeks	7-10 days
Subsequent detection cycle	7-10 days	7-10 days
Limit of detection	0.02%-0.005%	0.1%-0.05%
Cancer type applicability	Not affected by tumor type, widely applicable to various cancers	Can simultaneously detect multiple cancer types or highly heterogeneous tumors
Main advantages	High sensitivity, high accuracy	Do not require tumor tissue, lower cost
Main disadvantages	Requires tumor tissue sample, longer customization time, higher cost	High false-positive rate

表1

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