Department of Medical Oncology, Shanghai Pulmonary Hospital, Tongji University School of Medicine, Shanghai 200433, PR China.
Department of Medical Oncology, Shanghai Pulmonary Hospital, Tongji University School of Medicine, Shanghai 200433, PR China.
Lung Cancer. 2015 Nov;90(2):128-34. doi: 10.1016/j.lungcan.2015.09.013. Epub 2015 Sep 15.
The discovery of actionable driver mutations such as epidermal growth factor receptor (EGFR) and microtubule-associated protein-like 4 anaplastic lymphoma kinase (EML4-ALK) and their highly responses to EGFR and ALK tyrosine kinase inhibitors (TKIs) in patients with advanced non-small-cell lung cancer (NSCLC) allowed precise medicine into reality. However, a substantial part of patients still have no sufficient tissue to perform genomic analysis. As a promising noninvasive biomarker and potential surrogate for the entire tumor genome, circulating tumor DNA (ctDNA) has been applied to the detection of driver gene mutations and epigenetic alteration and monitoring of tumor burden, acquired resistance, tumor heterogeneity and early diagnosis. Since precise therapy is a strategy that optimal therapy is decided based on simultaneous tumor genome information, ctDNA, as a liquid biopsy, may help to perform dynamic genetic surveillance. In this paper we will perspectively discuss the biology and identification of ctDNA in the blood of NSCLC patients and its clinical applications in patient management.
可操作的驱动基因突变的发现，如表皮生长因子受体（EGFR）和微管相关蛋白样 4 间变性淋巴瘤激酶（EML4-ALK），以及它们对晚期非小细胞肺癌（NSCLC）患者的 EGFR 和 ALK 酪氨酸激酶抑制剂（TKIs）的高度反应，使精准医学成为现实。然而，相当一部分患者仍然没有足够的组织进行基因组分析。作为一种很有前途的非侵入性生物标志物和整个肿瘤基因组的潜在替代物，循环肿瘤 DNA（ctDNA）已被应用于驱动基因突变和表观遗传改变的检测，以及肿瘤负荷、获得性耐药、肿瘤异质性和早期诊断的监测。由于精准治疗是一种根据肿瘤基因组信息同时决定最佳治疗方案的策略，ctDNA 作为一种液体活检，可能有助于进行动态遗传监测。本文将前瞻性地讨论 NSCLC 患者血液中 ctDNA 的生物学和鉴定及其在患者管理中的临床应用。
