Analyzing blood as a so-called liquid biopsy in breast cancer (BC) patients has the potential to adapt therapy management. Circulating tumor cells (CTCs), extracellular vesicles (EVs), cell-free DNA (cfDNA) and other blood components mirror the tumoral heterogeneity and could support a range of clinical decisions. Multi-cancer early detection tests utilizing blood are advancing but are not part of any clinical routine yet. Liquid biopsy analysis in the course of neoadjuvant therapy has potential for therapy (de)escalation.Minimal residual disease detection via serial cfDNA analysis is currently on its way. The prognostic value of blood analytes in early and metastatic BC is undisputable, but the value of these prognostic biomarkers for clinical management is controversial. An interventional trial confirmed a significant outcome benefit when therapy was changed in case of newly emerging cfDNA mutations under treatment and thus showed the clinical utility of cfDNA analysis for therapy monitoring. The analysis of PIK3CA or ESR1 variants in plasma of metastatic BC patients to prescribe targeted therapy with alpesilib or elacestrant has already arrived in clinical practice with FDA-approved tests available and is recommended by ASCO. The translation of more liquid biopsy applications into clinical practice is still pending due to a lack of knowledge of the analytes’ biology, lack of standards and difficulties in proving clinical utility.
将血液作为所谓的液体活检进行分析，在乳腺癌患者中具有优化治疗管理的潜力。循环肿瘤细胞、细胞外囊泡、游离DNA及其他血液成分能够反映肿瘤异质性，可为一系列临床决策提供支持。基于血液的多癌种早期检测技术正在发展，但尚未纳入任何临床常规。新辅助治疗过程中的液体活检分析具有调整治疗强度的潜力。通过连续游离DNA分析进行微小残留病灶检测目前正在推进中。血液分析物在早期和转移性乳腺癌中的预后价值已获公认，但这些预后生物标志物对临床管理的指导价值仍存争议。一项干预性试验证实，当治疗期间新出现游离DNA突变时调整治疗方案可显著改善预后，从而证明了游离DNA分析在治疗监测中的临床效用。通过分析转移性乳腺癌患者血浆中的PIK3CA或ESR1变异来指导阿培利西或艾拉司群靶向治疗，已通过FDA批准的检测方法进入临床实践，并获美国临床肿瘤学会推荐。更多液体活检应用的临床转化仍有待实现，这主要受限于对分析物生物学的认知不足、标准缺失以及临床效用验证困难等因素。
The Diversity of Liquid Biopsies and Their Potential in Breast Cancer Management
肿瘤(癌症)患者之家