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液体活检在乳腺癌中的影响:重新定义非侵入性精准肿瘤学格局。

The impact of liquid biopsy in breast cancer: Redefining the landscape of non-invasive precision oncology.

作者信息

Malik Shaivy, Zaheer Sufian

机构信息

Department and Institution - Department of Pathology, Vardhman Mahavir Medical College and Safdarjung Hospital, New Delhi, India.

出版信息

J Liq Biopsy. 2025 May 21;8:100299. doi: 10.1016/j.jlb.2025.100299. eCollection 2025 Jun.


DOI:10.1016/j.jlb.2025.100299
PMID:40521566
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12166835/
Abstract

Breast cancer (BC) remains a leading cause of morbidity and mortality among women worldwide, necessitating the development of innovative diagnostic and monitoring strategies. Liquid biopsy (LB), a minimally invasive approach that analyzes circulating tumor cells (CTCs), cell-free DNA (cfDNA), circulating tumor DNA (ctDNA), extracellular vesicles (EVs), and other tumor-derived biomarkers in body fluids, has emerged as a transformative tool in BC management. This review comprehensively explores the role of LB in early detection, disease monitoring, treatment stratification, and resistance surveillance in BC. We discuss the latest advancements in LB technologies, including next-generation sequencing (NGS), digital PCR, and single-cell analysis, highlighting their sensitivity and specificity. Additionally, we examine the clinical utility of LB in guiding personalized therapy, particularly in the context of hormone receptor-positive, HER2positive, and triple-negative BC subtypes. Despite its promise, several challenges, including standardization, validation, and integration into clinical practice, remain to be addressed. By summarizing current evidence and future directions, this review underscores the potential of LB to revolutionize BC diagnosis and treatment, paving the way for a more precise and dynamic approach to disease management.

摘要

乳腺癌(BC)仍然是全球女性发病和死亡的主要原因,因此需要开发创新的诊断和监测策略。液体活检(LB)是一种微创方法,可分析体液中的循环肿瘤细胞(CTC)、游离DNA(cfDNA)、循环肿瘤DNA(ctDNA)、细胞外囊泡(EV)和其他肿瘤衍生生物标志物,已成为乳腺癌管理中的一种变革性工具。本综述全面探讨了液体活检在乳腺癌早期检测、疾病监测、治疗分层和耐药性监测中的作用。我们讨论了液体活检技术的最新进展,包括下一代测序(NGS)、数字PCR和单细胞分析,强调了它们的敏感性和特异性。此外,我们研究了液体活检在指导个性化治疗中的临床应用,特别是在激素受体阳性、HER2阳性和三阴性乳腺癌亚型的背景下。尽管液体活检前景广阔,但仍有一些挑战有待解决,包括标准化、验证以及融入临床实践等。通过总结当前证据和未来方向,本综述强调了液体活检在彻底改变乳腺癌诊断和治疗方面的潜力,为更精确、动态的疾病管理方法铺平了道路。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/89f8/12166835/00f447c7b230/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/89f8/12166835/00f447c7b230/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/89f8/12166835/00f447c7b230/gr1.jpg

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引用本文的文献

[1]
Liquid biopsy in breast cancer: Redefining precision medicine.

J Liq Biopsy. 2025-7-16

本文引用的文献

[1]
Advancements in Circulating Tumor Cell Detection for Early Cancer Diagnosis: An Integration of Machine Learning Algorithms with Microfluidic Technologies.

Biosensors (Basel). 2025-3-29

[2]
The treatment of breast cancer in the era of precision medicine.

Cancer Biol Med. 2025-4-23

[3]
Next-generation sequencing in cancer diagnosis and treatment: clinical applications and future directions.

Discov Oncol. 2025-4-20

[4]
Mapping breast cancer therapy with circulating tumor cells: The expert perspective.

Breast. 2025-6

[5]
Circulating tumor DNA to monitor treatment response in solid tumors and advance precision oncology.

NPJ Precis Oncol. 2025-3-24

[6]
Detection of minimal residual disease and prediction of recurrence in breast cancer using a plasma-only circulating tumor DNA assay.

ESMO Open. 2025-4

[7]
Advancements in pathology: Digital transformation, precision medicine, and beyond.

J Pathol Inform. 2024-11-19

[8]
AI-driven biomarker discovery: enhancing precision in cancer diagnosis and prognosis.

Discov Oncol. 2025-3-13

[9]
Development of a prediction model for ctDNA detection (Cir-Predict) in breast cancer.

Breast Cancer Res Treat. 2025-6

[10]
Beyond traditional biopsies: the emerging role of ctDNA and MRD on breast cancer diagnosis and treatment.

Discov Oncol. 2025-3-6

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