Pisapia Pasquale, Russo Alessandro, De Luca Caterina, Pepe Francesco, Drago Francesco, Rolfo Christian, Troncone Giancarlo, Malapelle Umberto
Department of Public Health, University of Naples Federico II, Naples, Italy.
Medical Oncology, Humanitas Istituto Clinico Catanese, Catania, Italy.
Lung Cancer. 2024 Dec;198:108002. doi: 10.1016/j.lungcan.2024.108002. Epub 2024 Oct 28.
Identifying mutations in the epidermal growth factor receptor (EGFR) gene is crucial for individualized treatment of non-small cell lung cancer (NSCLC) patients. Accordingly, several methodologies and instruments are now commercially available to detect these alterations. The aim of this study was to examine the performance of next generation sequencing (NGS) in detecting both common and uncommon EGFR gene mutations in advanced NSCLC patients.
We retrospectively retrieved molecular data from n = 1312 advanced stage NSCLC patients tested by our NGS DNA-based panel (namely SiRe® panel) from January 2018 to December 2022. We subsequently compared the NGS results with the reference ranges of the most popular real time PCR (RT-qPCR) assays (cobas® EGFR Mutation Test v2, EasyPGX® ready EGFR, Idylla™ EGFR mutation test, and therascreen® EGFR Plus RGQ).
Overall, NGS detected n = 234 mutations in n = 192 (15.9 %) patients. Conversely, when these results were compared with the reference ranges of the four most common commercially available RT-qPCR assays, far fewer mutations were identified: n = 18 (9.4 %), n = 17 (8.9 %), n = 17 (8.9 %), and n = 18 (9.4 %) mutations. These results suggest that if patients were tested solely using RT-qPCR assays, a substantial proportion would have been ineligible for targeted therapies.
Our study highlights that NGS is able to identify a much higher number of actionable EGFR mutations than RT-qPCR approaches, thereby providing many more patients the opportunity to receive targeted EGFR treatments.
鉴定表皮生长因子受体（EGFR）基因的突变对于非小细胞肺癌（NSCLC）患者的个体化治疗至关重要。因此，目前有几种方法和仪器可用于商业检测这些改变。本研究的目的是检验下一代测序（NGS）在检测晚期NSCLC患者常见和罕见EGFR基因突变方面的性能。
我们回顾性检索了2018年1月至2022年12月期间通过我们基于DNA的NGS检测板（即SiRe®检测板）检测的n = 1312例晚期NSCLC患者的分子数据。随后，我们将NGS结果与最常用的实时荧光定量PCR（RT-qPCR）检测方法（cobas® EGFR突变检测试剂盒v2、EasyPGX® ready EGFR、Idylla™ EGFR突变检测试剂盒和therascreen® EGFR Plus RGQ）的参考范围进行了比较。
总体而言，NGS在n = 192例（15.9%）患者中检测到n = 234个突变。相反，当将这些结果与四种最常用的商业RT-qPCR检测方法的参考范围进行比较时，鉴定出的突变要少得多：分别为n = 18个（9.4%）、n = 17个（8.9%）、n = 17个（8.9%）和n = 18个（9.4%）突变。这些结果表明，如果仅使用RT-qPCR检测方法对患者进行检测，相当一部分患者将不符合靶向治疗的条件。
我们的研究强调，与RT-qPCR方法相比，NGS能够鉴定出更多可操作的EGFR突变，从而为更多患者提供接受靶向EGFR治疗的机会。
