University of Tennessee Health Science Center, Memphis, TN, USA.
West Cancer Center and Research Institute, 7945 Wolf River Blvd, Germantown, TN, 38138, USA.
Curr Treat Options Oncol. 2020 Sep 1;21(11):89. doi: 10.1007/s11864-020-00783-3.
Liquid biopsy using blood components to assess circulating tumor DNA (ctDNA) is rapidly becoming a new standard-of-care technology in many tumor types, including breast cancer, due to the potential to provide predictive and prognostic information. The minimally invasive and repeatable nature of plasma based mutational testing is appealing for patients and facilitates enhanced disease monitoring. It is important for the clinician to understand the benefits and limitations of this emerging assay and the potential applications in breast cancer. Multiple technologies have been employed to assess breast cancer ctDNA with high sensitivity and specificity leading to assays that have been useful in research trials and are entering widespread clinical application. ctDNA analysis of breast cancer is of clinical utility today in selecting targeted therapy for advanced breast cancer, most notably by assessing PIK3CA mutations in hormone receptor-positive, HER2-negative disease. It will be employed in the near future in a variety of clinical settings including early detection of primary breast cancer, minimal residual disease after initial therapy, and use in advanced breast cancer for prognosis, early identification of non-response, and monitoring genomic markers of resistance.
液体活检利用血液成分评估循环肿瘤 DNA（ctDNA）正在迅速成为许多肿瘤类型（包括乳腺癌）的新护理标准技术，因为它有可能提供预测和预后信息。基于血浆的突变检测具有微创性和可重复性，对患者具有吸引力，并有助于增强疾病监测。临床医生了解这种新兴检测方法的优缺点以及在乳腺癌中的潜在应用非常重要。已经采用了多种技术来高度敏感和特异性地评估乳腺癌 ctDNA，从而产生了在研究试验中有用且正在广泛临床应用的检测方法。目前，ctDNA 分析在选择晚期乳腺癌的靶向治疗方面具有临床实用性，尤其是通过评估激素受体阳性、HER2 阴性疾病中的 PIK3CA 突变。在不久的将来，它将在多种临床环境中使用，包括早期检测原发性乳腺癌、初始治疗后的微小残留疾病，以及在晚期乳腺癌中用于预后、早期识别无反应和监测耐药性的基因组标志物。
