Cabanero M, Tsao M S
Princess Margaret Cancer Centre, University Health Network, and.
Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, ON.
Curr Oncol. 2018 Jun;25(Suppl 1):S38-S44. doi: 10.3747/co.25.3761. Epub 2018 Jun 13.
The advent of targeted therapy in non-small-cell lung cancer (nsclc) has made the routine molecular diagnosis of mutations crucial for optimal patient management. Obtaining tumour tissue for biomarker testing, especially in the setting of re-biopsy, can present many challenges. A potential alternative source of tumour dna is circulating cell-free tumour-derived dna (ctdna). Although ctdna is present in low quantities in plasma, the convenience of sample acquisition and the increasing reliability of detection methods make this approach a promising one. The various performance characteristics of both digital and nondigital platforms are still variable, and a standardized approach is needed that will make those platforms reliable clinical tools for the detection of sensitizing mutations and resistance mutations, including the T790M resistance mutation. Information derived from ctdna can be used to assess tumour burden, to identify genomic-based resistance mechanisms, and to track dynamic changes during therapy.
非小细胞肺癌（NSCLC）靶向治疗的出现使得对突变进行常规分子诊断对于优化患者管理至关重要。获取肿瘤组织进行生物标志物检测，尤其是在再次活检的情况下，可能会带来许多挑战。循环游离肿瘤来源DNA（ctDNA）是肿瘤DNA的一种潜在替代来源。尽管血浆中ctDNA的含量很低，但样本采集的便利性和检测方法可靠性的不断提高使这种方法颇具前景。数字平台和非数字平台的各种性能特征仍存在差异，需要一种标准化方法，使这些平台成为检测敏感突变和耐药突变（包括T790M耐药突变）的可靠临床工具。从ctDNA获得的信息可用于评估肿瘤负荷、识别基于基因组的耐药机制以及跟踪治疗期间的动态变化。
