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乳腺癌的液体活检:外科医生实用指南

Liquid biopsy in breast cancer: a practical guide for surgeons.

作者信息

Venkataraman Janhavi, Crook Timothy, Mokbel Kefah

机构信息

The London Breast Institute, Princess Grace Hospital, HCA Healthcare pvt Ltd., London, UK.

出版信息

Gland Surg. 2025 Apr 30;14(4):754-760. doi: 10.21037/gs-2025-11. Epub 2025 Apr 25.

DOI:10.21037/gs-2025-11
PMID:40405948
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12093179/
Abstract

Breast cancer remains a global health challenge, requiring innovative strategies for early detection, diagnosis, treatment monitoring, and recurrence detection. Liquid biopsy-leveraging circulating tumor cells (CTCs), circulating tumor DNA (ctDNA), microRNAs (miRNAs), exosomes, immune-based biomarkers, and tumor-educated platelets (TEPs)-has emerged as a promising tool to address these needs. CTCs and ctDNA provide critical insights into tumor heterogeneity, therapeutic targets, and resistance mechanisms, while miRNAs, exosomes, and other non-CTC-based markers reflect the tumor microenvironment and offer potential biomarkers for disease progression. Importantly, liquid biopsy offers distinct advantages in early detection and precise diagnosis, as well as in identifying therapeutic resistance in real time, allowing clinicians to adapt treatment strategies effectively. The non-invasive nature of liquid biopsy further enables real-time tumor monitoring, paving the way for personalized treatment approaches. However, several challenges hinder its routine clinical adoption, including technical complexity, economic constraints, and variations in detection sensitivity due to low biomarker abundance. Additionally, a lack of standardization in methodology and interpretation limits its widespread application. Rigorous standardization and clinical validation are essential to address these barriers, ensuring equitable access across diverse healthcare settings and transforming breast cancer care for millions worldwide. Future directions include integrating artificial intelligence and multi-omic approaches to enhance diagnostic accuracy and clinical utility.

摘要

乳腺癌仍然是一项全球性的健康挑战,需要创新策略用于早期检测、诊断、治疗监测和复发检测。液体活检——利用循环肿瘤细胞(CTC)、循环肿瘤DNA(ctDNA)、微小RNA(miRNA)、外泌体、基于免疫的生物标志物和肿瘤驯化血小板(TEP)——已成为满足这些需求的一种有前景的工具。循环肿瘤细胞和循环肿瘤DNA为肿瘤异质性、治疗靶点和耐药机制提供了关键见解,而微小RNA、外泌体和其他非循环肿瘤细胞的标志物反映了肿瘤微环境,并为疾病进展提供了潜在的生物标志物。重要的是,液体活检在早期检测和精确诊断以及实时识别治疗耐药性方面具有明显优势,使临床医生能够有效地调整治疗策略。液体活检的非侵入性本质还能实现实时肿瘤监测,为个性化治疗方法铺平道路。然而,一些挑战阻碍了其在临床中的常规应用,包括技术复杂性、经济限制以及由于生物标志物丰度低导致的检测灵敏度差异。此外,方法学和解释缺乏标准化限制了其广泛应用。严格的标准化和临床验证对于克服这些障碍至关重要,确保在不同医疗环境中公平获得,并改变全球数百万人的乳腺癌护理。未来的方向包括整合人工智能和多组学方法以提高诊断准确性和临床实用性。

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本文引用的文献

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Integrating machine learning-predicted circulating tumor cells (CTCs) and circulating tumor DNA (ctDNA) in metastatic breast cancer: A proof of principle study on endocrine resistance profiling.整合机器学习预测的转移性乳腺癌循环肿瘤细胞(CTC)和循环肿瘤DNA(ctDNA):内分泌耐药性分析的原理验证研究
Cancer Lett. 2025 Jan 28;609:217325. doi: 10.1016/j.canlet.2024.217325. Epub 2024 Nov 20.
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Exosomal miRNA as biomarker in cancer diagnosis and prognosis: A review.外泌体 miRNA 作为癌症诊断和预后的生物标志物:综述。
Medicine (Baltimore). 2024 Oct 18;103(42):e40082. doi: 10.1097/MD.0000000000040082.
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Dynamic changes in tumor profiling reveal intra- and inter-tumoral heterogeneity focused on an uncharacterized HER2 mutation: a case report of a young breast cancer patient.
肿瘤特征的动态变化揭示了肿瘤内和肿瘤间以一种未表征的HER2突变为重点的异质性:一名年轻乳腺癌患者的病例报告
Front Oncol. 2024 May 3;14:1395618. doi: 10.3389/fonc.2024.1395618. eCollection 2024.
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Clinical importance of serum miRNA levels in breast cancer patients.血清miRNA水平在乳腺癌患者中的临床重要性。
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ESMO recommendations on the use of circulating tumour DNA assays for patients with cancer: a report from the ESMO Precision Medicine Working Group.ESMO 关于使用循环肿瘤 DNA 检测用于癌症患者的建议:来自 ESMO 精准医学工作组的报告。
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