Panet François, Papakonstantinou Andri, Borrell Maria, Vivancos Joan, Vivancos Ana, Oliveira Mafalda
Breast Cancer Group, Vall d'Hebron Institute of Oncology (VHIO), Barcelona, Spain.
Lady Davis Institute, Jewish General Hospital, Montréal, QC, Canada.
NPJ Breast Cancer. 2024 Jun 19;10(1):50. doi: 10.1038/s41523-024-00653-3.
Circulating free tumor DNA (ctDNA) analysis is gaining popularity in precision oncology, particularly in metastatic breast cancer, as it provides non-invasive, real-time tumor information to complement tissue biopsies, allowing for tailored treatment strategies and improved patient selection in clinical trials. Its use in early breast cancer has been limited so far, due to the relatively low sensitivity of available techniques in a setting characterized by lower levels of ctDNA shedding. However, advances in sequencing and bioinformatics, as well as the use of methylome profiles, have led to an increasing interest in the application of ctDNA analysis in early breast cancer, from screening to curative treatment evaluation and minimal residual disease (MRD) detection. With multiple prospective clinical trials in this setting, ctDNA evaluation may become useful in clinical practice. This article reviews the data regarding the analytical validity of the currently available tests for ctDNA detection and the clinical potential of ctDNA analysis in early breast cancer.
循环游离肿瘤DNA（ctDNA）分析在精准肿瘤学中越来越受欢迎，尤其是在转移性乳腺癌中，因为它能提供非侵入性的实时肿瘤信息，以补充组织活检，从而在临床试验中制定个性化治疗策略并改善患者选择。到目前为止，由于在ctDNA释放水平较低的情况下现有技术的灵敏度相对较低，其在早期乳腺癌中的应用一直有限。然而，测序和生物信息学的进展以及甲基化组图谱的使用，使得人们对ctDNA分析在早期乳腺癌中的应用兴趣日益增加，从筛查到治愈性治疗评估以及微小残留病（MRD）检测。随着在这种情况下进行多项前瞻性临床试验，ctDNA评估可能在临床实践中变得有用。本文综述了有关当前可用的ctDNA检测试验的分析有效性以及ctDNA分析在早期乳腺癌中的临床潜力的数据。
