Marin Elba, Reyes Roxana, Arcocha Ainara, Viñolas Nuria, Mezquita Laura, Gonzalvo Elena, Saez de Gordoa Karmele, Jares Pedro, Reguart Noemi, Teixido Cristina
Division of Medical Oncology, Hospital Clínic, 08036 Barcelona, Spain.
Translational Genomics and Targeted Therapeutics in Solid Tumors, Institut d'Investigacions Biomèdiques August Pi I Sunyer, 08036 Barcelona, Spain.
Diagnostics (Basel). 2020 Nov 3;10(11):902. doi: 10.3390/diagnostics10110902.
Targeted therapies are a new paradigm in lung cancer management. Next-generation sequencing (NGS) techniques have allowed for simultaneous testing of several genes in a rapid and efficient manner; however, there are other molecular diagnostic tools such as the nCounter Vantage 3D single nucleotide variants (SNVs) solid tumour panel which also offer important benefits regarding sample input and time-to-response, making them very attractive for daily clinical use. This study aimed to test the performance of the Vantage panel in the routine workup of advanced non-squamous non-small cell lung cancer (NSCLC) patients and to validate and compare its outputs with the Oncomine Solid Tumor (OST) panel DNA kit, the standard technique in our institution. Two parallel multiplexed approaches were performed based on DNA NGS and direct digital detection of DNA with nCounter technology to evaluate SNVs. A total of 42 advanced non-squamous NSCLC patients were prospectively included in the study. Overall, 95% of samples were successfully characterized by both technologies. The Vantage panel accounted for a sensitivity of 95% and a specificity of 82%. In terms of predictive values, the probability of truly presenting the SNV variant when it is detected by the nCounter panel was 82%, whereas the probability of not presenting the SNV variant when it is not detected by the platform was 95%. Finally, Cohen's Kappa coefficient was 0.76, indicating a substantial correlation grade between OST and Vantage panels. Our results make nCounter an analytically sensitive, practical and cost-effective tool.
靶向治疗是肺癌治疗的一种新范式。下一代测序（NGS）技术能够快速、高效地同时检测多个基因；然而，还有其他分子诊断工具，如nCounter Vantage 3D单核苷酸变异（SNV）实体瘤检测板，在样本输入和响应时间方面也具有重要优势，使其在日常临床应用中非常有吸引力。本研究旨在测试Vantage检测板在晚期非鳞状非小细胞肺癌（NSCLC）患者常规检查中的性能，并将其结果与我们机构的标准技术Oncomine实体瘤（OST）检测板DNA试剂盒进行验证和比较。基于DNA NGS和使用nCounter技术直接数字检测DNA进行了两种平行的多重检测方法，以评估SNV。共有42例晚期非鳞状NSCLC患者前瞻性纳入本研究。总体而言，95%的样本通过两种技术均成功进行了特征分析。Vantage检测板的灵敏度为95%，特异性为82%。在预测值方面，当nCounter检测板检测到SNV变异时，真正呈现该变异的概率为82%，而当该平台未检测到SNV变异时，未呈现该变异的概率为95%。最后，科恩kappa系数为0.76，表明OST检测板和Vantage检测板之间存在高度相关性。我们的结果表明nCounter是一种分析灵敏、实用且具有成本效益的工具。
