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循环肿瘤细胞(CTC)和循环肿瘤DNA(ctDNA)检测技术的进展:改善乳腺癌治疗的机遇

Advances in CTC and ctDNA detection techniques: opportunities for improving breast cancer care.

作者信息

Zhong Hai-Jing, Zhen Yumiao, Chen Shiji, Shi Wei, Liang Xiaoxu, Yang Guan-Jun

机构信息

State Key Laboratory of Bioactive Molecules and Druggability Assessment, International Cooperative Laboratory of Traditional Chinese Medicine Modernization and Innovative Drug Development of Chinese Ministry of Education (MOE) of China, School of Pharmacy, Jinan University, Guangzhou, 510632, China.

Department of Oncology, The Second Affiliated Hospital of Anhui Medical University, Hefei, 230601, Anhui, China.

出版信息

Breast Cancer Res. 2025 Jun 2;27(1):97. doi: 10.1186/s13058-025-02024-7.

DOI:10.1186/s13058-025-02024-7
PMID:40457318
Abstract

The advent of precision therapy has revolutionized breast cancer treatment, driven by the development of innovative diagnostic techniques and targeted drugs. Identifying biomarkers related to therapy response is crucial for tailoring treatment strategies for breast cancer patients. Liquid biopsies have emerged as minimally invasive techniques for biomarker profiling, leveraging the increasing sensitivity for detecting oncogenic drivers. These liquid biopsy methods, involving the testing of circulating tumor cells (CTCs) and circulating tumor DNA (ctDNA) in biofluids, offer more opportunities for early cancer detection, monitoring treatment efficacy, and identifying resistance mechanisms. This review focuses on the technical methodologies employed for the detection of CTCs and ctDNA. Beyond the technical aspects, we discuss the clinical applications of these biomarkers in breast cancer, including their roles in early detection, monitoring treatment response, and guiding therapeutic decisions. We also address the challenges associated with CTC and ctDNA detection, such as low concentrations in biofluids and tumor heterogeneity, which can complicate analysis and interpretation. By discussing the current landscape of CTC and ctDNA methodologies and their clinical implications, this review highlights the potential of liquid biopsies to enhance personalized medicine approaches in breast cancer management.

摘要

精准治疗的出现彻底改变了乳腺癌的治疗方式,这一进展得益于创新诊断技术和靶向药物的发展。识别与治疗反应相关的生物标志物对于为乳腺癌患者量身定制治疗策略至关重要。液体活检已成为用于生物标志物分析的微创技术,利用了检测致癌驱动因素不断提高的灵敏度。这些液体活检方法,包括检测生物流体中的循环肿瘤细胞(CTC)和循环肿瘤DNA(ctDNA),为早期癌症检测、监测治疗效果和识别耐药机制提供了更多机会。本综述重点关注用于检测CTC和ctDNA的技术方法。除了技术方面,我们还讨论了这些生物标志物在乳腺癌中的临床应用,包括它们在早期检测、监测治疗反应和指导治疗决策中的作用。我们还探讨了与CTC和ctDNA检测相关的挑战,例如生物流体中浓度低以及肿瘤异质性,这可能使分析和解释变得复杂。通过讨论CTC和ctDNA方法的当前情况及其临床意义,本综述强调了液体活检在增强乳腺癌管理中个性化医疗方法方面的潜力。

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Advances in CTC and ctDNA detection techniques: opportunities for improving breast cancer care.循环肿瘤细胞(CTC)和循环肿瘤DNA(ctDNA)检测技术的进展:改善乳腺癌治疗的机遇
Breast Cancer Res. 2025 Jun 2;27(1):97. doi: 10.1186/s13058-025-02024-7.
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本文引用的文献

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Circulating tumor DNA fraction predicts residual cancer burden post-neoadjuvant chemotherapy in triple negative breast cancer.循环肿瘤DNA分数可预测三阴性乳腺癌新辅助化疗后的残余癌负荷。
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A Tumor-Naïve ctDNA Assay Detects Minimal Residual Disease in Resected Stage II or III Colorectal Cancer and Predicts Recurrence: Subset Analysis from the GALAXY Study in CIRCULATE-Japan.
一种未接触肿瘤的循环肿瘤DNA检测法可检测II期或III期切除结直肠癌中的微小残留病并预测复发:来自日本CIRCULATE研究中GALAXY研究的亚组分析
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Use of ctDNA in early breast cancer: analytical validity and clinical potential.循环肿瘤DNA在早期乳腺癌中的应用:分析有效性和临床潜力。
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Comprehensive genomic profiling of ESR1, PIK3CA, AKT1, and PTEN in HR(+)HER2(-) metastatic breast cancer: prevalence along treatment course and predictive value for endocrine therapy resistance in real-world practice.在 HR(+)HER2(-)转移性乳腺癌中进行 ESR1、PIK3CA、AKT1 和 PTEN 的全面基因组分析:在真实世界实践中治疗过程中的流行率和内分泌治疗耐药的预测价值。
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