Oncology Working Group, Society of Junior Doctors, Athens, Greece.
1st Department of Medical Oncology, Theageneio Anticancer Hospital, Thessaloníki, Greece.
J Cancer Res Clin Oncol. 2020 Aug;146(8):2051-2066. doi: 10.1007/s00432-020-03267-x. Epub 2020 May 27.
To explore whether targeted next generation sequencing (NGS) of liquid biopsy in advanced non-small cell lung cancer (NSCLC) could potentially overcome the innate problems that arise with standard tissue biopsy, like intratumoral heterogeneity and the inability to obtain adequate samples for analysis.
The Scopus, Cochrane Library, and MEDLINE (via PubMed) databases were searched for studies with matched tissue and liquid biopsies from advanced NSCLC patients, analyzed with targeted NGS. The number of mutations detected in tissue biopsy only, liquid biopsy only, or both was assessed and the positive percent agreement (PPA) of the two methods was calculated for every clinically relevant gene.
A total of 644 unique relevant articles were retrieved and data were extracted from 38 studies fulfilling the inclusion criteria. The sample size was composed of 2000 mutations tested in matched tissue and liquid biopsies derived from 1141 patients. No studies analyzed circulating tumor cells. The calculated PPA rates were 53.6% (45/84) for ALK, 53.9% (14/26) for BRAF, 56.5% (13/23) for ERBB2, 67.8% (428/631) for EGFR, 64.2% (122/190) for KRAS, 58.6% (17/29) for MET, 54.6% (12/22) for RET, and 53.3% (8/15) for ROS1. We additionally recorded data for 65 genes that are not recommended by current guidelines for mutational testing. An extra category containing results of unspecified genes was added, with a PPA rate of 55.7% (122/219).
Despite many advantages, liquid biopsy might be unable to fully substitute its tissue counterpart in detecting clinically relevant mutations in advanced NSCLC patients. However, it may serve as a helpful tool when making therapeutic decisions. More studies are needed to evaluate its role in everyday clinical practice.
探讨在晚期非小细胞肺癌（NSCLC）中，靶向下一代测序（NGS）是否能克服组织活检固有的问题，如肿瘤内异质性和无法获得足够的样本进行分析。
在 Scopus、Cochrane 图书馆和 MEDLINE（通过 PubMed）数据库中搜索了关于晚期 NSCLC 患者的匹配组织和液体活检，以及使用靶向 NGS 进行分析的研究。评估仅在组织活检、液体活检或两者中检测到的突变数量，并计算了两种方法对每个临床相关基因的阳性百分率（PPA）。
共检索到 644 篇相关的独特文章，并从符合纳入标准的 38 项研究中提取数据。样本量由来自 1141 名患者的 2000 个突变进行测试。没有研究分析循环肿瘤细胞。计算得出的 PPA 率为：ALK 为 53.6%（45/84），BRAF 为 53.9%（14/26），ERBB2 为 56.5%（13/23），EGFR 为 67.8%（428/631），KRAS 为 64.2%（122/190），MET 为 58.6%（17/29），RET 为 54.6%（12/22），ROS1 为 53.3%（8/15）。我们还记录了目前不推荐用于突变检测的 65 个基因的额外数据。添加了一个包含未指定基因结果的额外类别，PPA 率为 55.7%（122/219）。
尽管有许多优势，但液体活检可能无法完全取代其组织对应物，无法在晚期 NSCLC 患者中检测到临床相关的突变。然而，它可能在制定治疗决策时作为一种有用的工具。需要更多的研究来评估其在日常临床实践中的作用。
