Koide Sandra Satie, Araújo Breno Jeha, Massaro Juliana Doblas, de Godoy E Silva Renata, Dienstmann Rodrigo, Koyama Ribeiro Fernanda Christtanini
OC Medicina de Precisão Oncoclínicas&Co São Paulo, São Paulo, Brazil.
University of Vic-Central University of Catalonia, Vic, Spain.
Sci Rep. 2025 Jul 26;15(1):27237. doi: 10.1038/s41598-025-10585-y.
A large proportion of non-small-cell lung cancer (NSCLC) patients harbor clinically actionable genomic alterations, detected in general by broad Next-Generation Sequencing (NGS) panels, since it is the gold standard test and strongly recommended by different societies. However, high failure rates due to preanalytical factors and long turnaround times are still hindering rapid treatment decision taking in the real-world setting. The objective of this study was to validate the IntelliPlex Lung Cancer Panel by πCODE Technology for biomarker detection using clinical specimens compared to NGS as the gold standard methodology. A total of fifty-eight (58) Formalin-Fixed Paraffin-Embedded tissue (FFPE) samples from fifty-three (53) patients diagnosed with advanced lung adenocarcinoma and 2 reference controls were used. Overall, the test presented 97,73% sensitivity, 100% specificity and 98,15% accuracy. The IntelliPlex Lung Cancer Panel DNA presented 98% agreement, and the IntelliPlex Lung Cancer Panel RNA presented 100% agreement between the results obtained from the CGP NGS methodology. The IntelliPlex Lung Cancer Panel by πCODE Technology demonstrates high specificity and sensitivity for use in clinical laboratories to routine detection for actionable mutations and fusions in NSCLC tumor samples, with high potential to become an alternative to broad NGS panels according to pre-analytical factors.
很大一部分非小细胞肺癌（NSCLC）患者存在临床上可采取行动的基因组改变，一般通过广泛的下一代测序（NGS）检测板来检测，因为它是金标准检测方法，并且受到不同学会的强烈推荐。然而，由于分析前因素导致的高失败率和较长的周转时间，仍然阻碍着在现实环境中迅速做出治疗决策。本研究的目的是将采用πCODE技术的IntelliPlex肺癌检测板与作为金标准方法的NGS相比较，验证其使用临床标本进行生物标志物检测的能力。总共使用了来自53例诊断为晚期肺腺癌患者的58份福尔马林固定石蜡包埋组织（FFPE）样本以及2份对照样本。总体而言，该检测的灵敏度为97.73%，特异性为100%，准确率为98.15%。IntelliPlex肺癌检测板DNA的结果与CGP NGS方法获得的结果之间的一致性为98%，IntelliPlex肺癌检测板RNA的一致性为100%。采用πCODE技术的IntelliPlex肺癌检测板在临床实验室用于NSCLC肿瘤样本中可操作突变和融合的常规检测时，表现出高特异性和灵敏度，根据分析前因素，有很大潜力成为广泛NGS检测板的替代方法。
