Department of Surgery, Seoul St. Mary's Hospital, College of Medicine, The Catholic University of Korea, Seoul, Republic of Korea.
Adv Exp Med Biol. 2021;1187:337-361. doi: 10.1007/978-981-32-9620-6_17.
Cancer is associated with gene mutations, and the analysis of tumor-associated mutations is increasingly used for diagnostic, prognostic, and treatment purposes. These molecular landscapes of solid tumors are currently obtained from surgical or biopsy specimens. However, during cancer progression and treatment, selective pressures lead to additional genetic changes as tumors acquire drug resistance. Tissue sampling cannot be performed routinely owing to its invasive nature and a single biopsy only provides a limited snapshot of a tumor, which may fail to reflect spatial and temporal heterogeneity. This dilemma may be solved by analyzing cancer cells or cancer cell-derived DNA from blood samples, called liquid biopsy. Liquid biopsy is one of the most rapidly advancing fields in cancer diagnostics and recent technological advances have enabled the detection and detailed characterization of circulating tumor cells and circulating tumor DNA in blood samples.Liquid biopsy is an exciting area with rapid advances, but we are still at the starting line with many challenges to overcome. In this chapter we will explore how tumor cells and tumor-associated mutations detected in the blood can be used in the clinic. This will include detection of cancer, prediction of prognosis, monitoring systemic therapies, and stratification of patients for therapeutic targets or resistance mechanisms.
癌症与基因突变有关，对肿瘤相关突变的分析越来越多地用于诊断、预后和治疗目的。这些实体瘤的分子图谱目前是从手术或活检标本中获得的。然而，在癌症进展和治疗过程中，由于肿瘤获得耐药性，选择压力会导致额外的遗传变化。由于其侵袭性，组织采样不能常规进行，而且单次活检只能提供肿瘤的有限快照，可能无法反映空间和时间异质性。这个难题可以通过分析来自血液样本的癌细胞或癌细胞衍生的 DNA 来解决，这种方法称为液体活检。液体活检是癌症诊断中发展最快的领域之一，最近的技术进步使人们能够在血液样本中检测和详细描述循环肿瘤细胞和循环肿瘤 DNA。液体活检是一个令人兴奋的领域，发展迅速，但我们仍处于起步阶段，还有许多挑战需要克服。在本章中，我们将探讨如何在临床上使用血液中检测到的肿瘤细胞和肿瘤相关突变。这将包括癌症的检测、预后的预测、系统治疗的监测，以及为治疗靶点或耐药机制对患者进行分层。
