University of Colombo, Faculty of Medicine, Department of Pathology, Sri Lanka.
Malays J Pathol. 2023 Aug;45(2):175-186.
Breast carcinoma is the most common malignancy among women worldwide. Liquid biopsy is a method of obtaining tumour-derived material from blood and body fluid. This includes the assessment of circulating tumour cells (CTCs), circulating tumour deoxyribose nucleic acid (ctDNA), tumour educated platelets (TEPs) and exosomes. Detection of CTCs and ctDNA in liquid biopsy has been shown to have prognostic and predictive value in both early and metastatic breast carcinoma. The study of CTCs could also advance our understanding of aspects of tumour biology, including epithelial mesenchymal transition. ctDNA can be used to assess and monitor the molecular profile of breast carcinoma. It may help detect new genetic alterations in tumours and predict disease progression before the onset of clinical features or radiological evidence. TEPs and exosomes are also emerging as diagnostic, prognostic and predictive markers of breast carcinoma. Thus, liquid biopsy provides a non-invasive, repeatable method for the dynamic assessment of the tumour. Many methods have been used for the detection of CTCs and ctDNA. Most of these are still in the research stage and only the CellSearch method for the detection of CTCs and Therascreen PIK3CA RGQ polymerase chain reaction (PCR) assay for the detection of PIK3CA (Phosphatidylinositol-4,5-Bisphosphate 3-Kinase Catalytic Subunit Alpha) mutations in liquid biopsy have approval of the United States, Food and Drug Administration. However, their high costs, lack of standardized procedures, and a long and complicated detection process have limited their use. Despite its limitations, liquid biopsy is a useful tool in clinical decision making and has the potential to play an increasingly important role in the management of breast carcinoma in the future as we move toward more personalized cancer care.
乳腺癌是全世界女性中最常见的恶性肿瘤。液体活检是一种从血液和体液中获取肿瘤源性物质的方法。这包括循环肿瘤细胞(CTC)、循环肿瘤脱氧核糖核酸(ctDNA)、肿瘤教育血小板(TEP)和外泌体的评估。液体活检中 CTC 和 ctDNA 的检测已被证明在早期和转移性乳腺癌中具有预后和预测价值。CTC 的研究也可以增进我们对肿瘤生物学方面的理解,包括上皮间质转化。ctDNA 可用于评估和监测乳腺癌的分子谱。它可以帮助检测肿瘤中的新遗传改变,并在出现临床特征或放射学证据之前预测疾病进展。TEP 和外泌体也作为乳腺癌的诊断、预后和预测标志物而出现。因此,液体活检为肿瘤的动态评估提供了一种非侵入性、可重复的方法。已经使用了许多方法来检测 CTC 和 ctDNA。其中大多数仍处于研究阶段,只有 CellSearch 方法可用于检测 CTC,Therascreen PIK3CA RGQ 聚合酶链反应(PCR)测定法可用于检测液体活检中的 PIK3CA(Phosphatidylinositol-4,5-Bisphosphate 3-Kinase Catalytic Subunit Alpha)突变在美国、食品和药物管理局获得批准。然而,它们的高成本、缺乏标准化程序以及冗长而复杂的检测过程限制了它们的使用。尽管存在局限性,但液体活检是临床决策中的有用工具,随着我们朝着更个性化的癌症治疗迈进,它有可能在未来在乳腺癌的管理中发挥越来越重要的作用。