Batra Ullas, Nathany Shrinidhi
Medical Oncology, Rajiv Gandhi Cancer Institute and Research Centre, New Delhi, India.
Hematology and Bone Marrow Transplant, Fortis Memorial Research Institute, Gurgaon, Haryana, India.
Oncol Rev. 2025 Jan 6;18:1445826. doi: 10.3389/or.2024.1445826. eCollection 2024.
Non-small-cell lung cancer (NSCLC) is the poster child of personalized medicine. With increased knowledge about biomarkers and the consequent improvement in survival rates, NSCLC has changed from being a therapeutic nihilistic disease to that characterized by therapeutic enthusiasm. The routine biomarkers tested in NSCLC are EGFR, ALK, and ROS1. However, several additional biomarkers have been added to the diagnostic landscape. Current guidelines recommend testing at least seven biomarkers upfront at the time of NSCLC diagnosis-emphasizing the wide range of targets and corresponding therapies that can be leveraged for disease management. Sequential single-gene testing is not only time-consuming but also leads to tissue exhaustion. Multigene panel testing using next-generation sequencing (NGS) offers an attractive diagnostic substitute that aligns with the evolving dynamics of precision medicine. NGS enables the identification of point mutations, insertions, deletions, copy number alterations, fusion genes, and microsatellite instability information needed to guide the potential use of targeted therapy. This article reviews the existing guidelines, proposed recommendations for NGS in non-squamous NSCLC, real-world data on its use, and the advantages of adopting broader panel-based NGS testing over single-gene testing.
非小细胞肺癌(NSCLC)是精准医疗的典型代表。随着对生物标志物认识的增加以及生存率的相应提高,NSCLC已从一种治疗上消极的疾病转变为充满治疗热情的疾病。NSCLC中常规检测的生物标志物是表皮生长因子受体(EGFR)、间变性淋巴瘤激酶(ALK)和ROS1。然而,诊断领域又增加了几种其他生物标志物。当前指南建议在NSCLC诊断时至少预先检测七种生物标志物,强调可用于疾病管理的广泛靶点和相应治疗方法。序贯单基因检测不仅耗时,还会导致组织耗尽。使用下一代测序(NGS)的多基因检测提供了一种有吸引力的诊断替代方法,与精准医疗不断发展的动态相契合。NGS能够识别指导靶向治疗潜在应用所需的点突变、插入、缺失、拷贝数改变、融合基因和微卫星不稳定性信息。本文回顾了现有指南、针对非鳞状NSCLC中NGS的建议、其使用的真实世界数据,以及采用更广泛的基于基因检测板的NGS检测相对于单基因检测的优势。