Manicone Mariangela, Poggiana Cristina, Facchinetti Antonella, Zamarchi Rita
IOV-IRCCS, Padova, Italy.
Department of Surgery, Oncology and Gastroenterology, Oncology Section, University of Padova, Padova, Italy.
J Thorac Dis. 2017 Oct;9(Suppl 13):S1346-S1358. doi: 10.21037/jtd.2017.07.28.
Current therapeutic options for non-small cell lung cancer (NSCLC) patients are chemotherapy and targeted therapy directed mainly against epidermal growth factor receptor (EGFR) mutations and anaplastic lymphoma kinase (ALK) rearrangements. Targeted therapy relies on the availability of tumor biopsies for molecular profiling at diagnosis and to longitudinally monitor treatment response and resistance development. Unfortunately, tumor biopsy might be invasive, recover poor material of suboptimal quality, and cause sample bias due to tumor heterogeneity. Many studies have illustrated the potential of liquid biopsy as minimal invasive approach to respond to the urgent need for real time monitoring, stratification, and personalized optimized treatment in NSCLC patients. In principle, the liquid biopsy could provide the genetic landscape of primary and metastatic cancerous lesions, detecting "druggable" genomic alterations or associated with treatment resistance. Moreover, it would guarantee the prognostic/predictive biomarkers evaluation in patients for whom biopsies are inaccessible or difficult to repeat. At this regard, the prognostic value of circulating tumor cells (CTCs) in NSCLC patients has been largely investigated, but still their clinical utility as tumor biomarker is hampered by the lack of a consensus on the criteria necessary and sufficient to define them and on the standard operating procedures (SOPs) for their assessment. This review will summarize current developments on liquid biopsy in NSCLC, addressing the technology issues that contribute to the poor ability to track CTCs in the blood of NSCLC patients, thus limiting their extensive use in the clinical practice, and analyzing the solutions adopted to overcome such limits, on the road towards the clinical validation.
非小细胞肺癌(NSCLC)患者目前的治疗选择是化疗以及主要针对表皮生长因子受体(EGFR)突变和间变性淋巴瘤激酶(ALK)重排的靶向治疗。靶向治疗依赖于在诊断时获取肿瘤活检样本进行分子分析,并纵向监测治疗反应和耐药性发展。不幸的是,肿瘤活检可能具有侵入性,获取的样本质量欠佳且数量有限,并且由于肿瘤异质性会导致样本偏差。许多研究表明,液体活检作为一种微创方法,有潜力满足NSCLC患者对实时监测、分层以及个性化优化治疗的迫切需求。原则上,液体活检可以提供原发性和转移性癌性病变的基因图谱,检测“可靶向治疗的”基因组改变或与治疗耐药相关的改变。此外,对于无法进行活检或难以重复活检的患者,液体活检还能保证对其预后/预测生物标志物进行评估。在这方面,NSCLC患者循环肿瘤细胞(CTC)的预后价值已得到大量研究,但作为肿瘤生物标志物,其临床应用仍受到限制,原因在于对于定义CTC所需的充分必要标准以及评估CTC的标准操作程序(SOP)缺乏共识。本综述将总结NSCLC液体活检的当前进展,探讨导致难以在NSCLC患者血液中追踪CTC的技术问题,这些问题限制了CTC在临床实践中的广泛应用,并分析为克服这些限制所采取的解决方案,以期实现临床验证。