Department of Public Health, University of Naples Federico II, Naples, Italy.
Department of Oncology, University of Turin, San Luigi Hospital, Regione Gonzole 1, Orbassano, Turin, 10043, Italy.
Per Med. 2022 Sep;19(5):395-401. doi: 10.2217/pme-2022-0020. Epub 2022 Jul 8.
, , and gene fusions and exon 14 skipping alterations represent novel predictive biomarkers for advanced non-small-cell lung cancer (NSCLC). Therefore, testing patients for these genetic variants is crucial for choosing the best selective treatment. Over the last couple of decades, next-generation sequencing (NGS) platforms have emerged as an extremely useful tool for detecting these variants. In the present study, we report our NGS molecular records produced during a year of diagnostic activity. Overall, our in-house developed NGS workflow successfully analyzed n = 116/131 (88.5%) NSCLC samples. Of these, eight (6.8%) and five (4.3%) out of 116 patients harbored and gene rearrangements, respectively: one case harbored gene fusion (0.7%). Our results highlight that an RNA-based NGS analysis can reliably detect gene fusion alterations, thereby playing a pivotal role in the management of NSCLC patients.
、 和 基因融合以及外显子 14 跳跃改变代表了晚期非小细胞肺癌（NSCLC）的新型预测性生物标志物。因此，检测这些遗传变异对于选择最佳的选择性治疗至关重要。在过去的几十年中，下一代测序（NGS）平台已成为检测这些变异的极其有用的工具。在本研究中，我们报告了在一年的诊断活动中产生的 NGS 分子记录。总体而言，我们内部开发的 NGS 工作流程成功分析了 n=116/131（88.5%）例 NSCLC 样本。其中，8 例（6.8%）和 5 例（4.3%）患者分别携带 和 基因重排：1 例携带 基因融合（0.7%）。我们的结果表明，基于 RNA 的 NGS 分析可以可靠地检测基因融合改变，从而在 NSCLC 患者的管理中发挥关键作用。
