Mesquita Alexandra, Costa José Luís, Schmitt Fernando
Medical Oncology Department, Hospital Pedro Hispano, Unidade Local Saúde Matosinhos, 4464-513 Senhora da Hora, Portugal.
Institute of Molecular Pathology and Immunology, University of Porto, 4200-135 Porto, Portugal.
Cancers (Basel). 2020 Dec 16;12(12):3797. doi: 10.3390/cancers12123797.
Breast cancer is a complex disease whose molecular mechanisms are not completely understood. Developing target therapies is a promising approach. Therefore, understanding the biological behavior of the tumor is a challenge. Tissue biopsy in the metastatic setting remains the standard method for diagnosis. Nevertheless, it has been associated with some disadvantages: It is an invasive procedure, it may not represent tumor heterogeneity, and it does not allow for treatment efficacy to be assessed or early recurrences to be detected. Analysis of circulating tumor DNA (ctDNA) may help to overcome this as it is a non-invasive method of monitoring the disease. In early-stage disease, it can detect early recurrences and monitor tumors' genomic profiles, identifying the emergence of new genetic alterations which can be related to tumor-acquired resistance. In the metastatic setting, the analysis of ctDNA may also allow for the anticipation of clinical and radiological progression of the disease, selection of targeted therapies, and for a photogram of tumor heterogeneity to be provided. It may also detect disease progression earlier in locally advanced tumors submitted to neoadjuvant treatment, and identify minimal residual disease. ctDNA analysis may guide clinical decision-making in different scenarios, in a precision medicine era, once it acts as a repository of genetic tumor material, allowing for a comprehensive mutation profiling analysis. In this review, we focused on recent advances towards the implementation of ctDNA in a clinical routine for breast cancer.
乳腺癌是一种复杂的疾病，其分子机制尚未完全明确。开发靶向治疗是一种很有前景的方法。因此，了解肿瘤的生物学行为是一项挑战。转移性疾病的组织活检仍然是诊断的标准方法。然而，它存在一些缺点：它是一种侵入性操作，可能无法代表肿瘤的异质性，并且不允许评估治疗效果或检测早期复发。循环肿瘤DNA（ctDNA）分析可能有助于克服这些问题，因为它是一种监测疾病的非侵入性方法。在早期疾病中，它可以检测早期复发并监测肿瘤的基因组图谱，识别可能与肿瘤获得性耐药相关的新基因改变的出现。在转移性疾病中，ctDNA分析还可以预测疾病的临床和影像学进展，选择靶向治疗，并提供肿瘤异质性的图像。它还可以在接受新辅助治疗的局部晚期肿瘤中更早地检测疾病进展，并识别微小残留疾病。在精准医学时代，ctDNA分析可以作为肿瘤遗传物质的储存库，进行全面的突变谱分析，从而在不同情况下指导临床决策。在本综述中，我们重点关注了ctDNA在乳腺癌临床常规应用方面的最新进展。
