Wake Forest Baptist Comprehensive Cancer Center, Wake Forest Baptist Medical Center, Winston-Salem, USA; Department of Cancer Biology, Wake Forest School of Medicine, Winston-Salem, USA; Department of Epidemiology and Biostatistics, National Clinical Research Center for Cancer, Tianjin, China; Key Laboratory of Cancer Prevention and Therapy, Tianjin Medical University Cancer Institute and Hospital, Tianjin, China.
Wake Forest Baptist Comprehensive Cancer Center, Wake Forest Baptist Medical Center, Winston-Salem, USA; Department of Cancer Biology, Wake Forest School of Medicine, Winston-Salem, USA.
Ann Oncol. 2018 Feb 1;29(2):311-323. doi: 10.1093/annonc/mdx766.
Tissue biopsy is the standard diagnostic procedure for cancer. Biopsy may also provide material for genotyping, which can assist in the diagnosis and selection of targeted therapies but may fall short in cases of inadequate sampling, particularly from highly heterogeneous tumors. Traditional tissue biopsy suffers greater limitations in its prognostic capability over the course of disease, most obviously as an invasive procedure with potential complications, but also with respect to probable tumor clonal evolution and metastasis over time from initial biopsy evaluation. Recent work highlights circulating tumor DNA (ctDNA) present in the blood as a supplemental, or perhaps an alternative, source of DNA to identify the clinically relevant cancer mutational landscape. Indeed, this noninvasive approach may facilitate repeated monitoring of disease progression and treatment response, serving as a means to guide targeted therapies based on detected actionable mutations in patients with advanced or metastatic solid tumors. Notably, ctDNA is heralding a revolution in the range of genomic profiling and molecular mechanisms to be utilized in the battle against cancer. This review will discuss the biology of ctDNA, current methods of detection and potential applications of this information in tumor diagnosis, treatment, and disease prognosis. Conventional classification of tumors to describe cancer stage follow the TNM notation system, heavily weighting local tumor extent (T), lymph node invasion (N), and detectable metastasis (M). With recent advancements in genomics and bioinformatics, it is conceivable that routine analysis of ctDNA from liquid biopsy (B) may make cancer diagnosis, treatment, and prognosis more accurate for individual patients. We put forward the futuristic concept of TNMB tumor classification, opening a new horizon for precision medicine with the hope of creating better outcomes for cancer patients.
组织活检是癌症的标准诊断程序。活检还可为基因分型提供材料，这有助于诊断和选择靶向治疗，但在采样不足的情况下可能不够准确，尤其是在高度异质性肿瘤中。传统的组织活检在疾病过程中的预后能力方面存在更大的局限性，最明显的是作为一种潜在有并发症的侵入性操作，但也涉及随着时间的推移，肿瘤克隆进化和从初始活检评估时的转移。最近的研究强调了血液中存在的循环肿瘤 DNA (ctDNA)，作为一种补充或替代来源的 DNA，用于识别具有临床相关性的癌症突变景观。事实上，这种非侵入性方法可能有助于重复监测疾病进展和治疗反应，作为指导基于先进或转移性实体瘤患者检测到的可操作突变的靶向治疗的一种手段。值得注意的是，ctDNA 正在引领癌症基因组分析和分子机制范围的革命，以用于对抗癌症。这篇综述将讨论 ctDNA 的生物学、当前的检测方法以及这些信息在肿瘤诊断、治疗和疾病预后中的潜在应用。传统的肿瘤分类描述癌症分期遵循 TNM 标记系统，重点关注局部肿瘤范围 (T)、淋巴结侵犯 (N) 和可检测的转移 (M)。随着基因组学和生物信息学的最新进展，可以想象从液体活检 (B) 中常规分析 ctDNA 可能会使癌症诊断、治疗和预后对个体患者更加准确。我们提出了 TNMB 肿瘤分类的未来概念，为精准医学开辟了新的视野，希望为癌症患者创造更好的结果。
