Nong Lin, Zhang Zhenzhen, Xiong Yan, Zheng Yalin, Li Xin, Li Dong, He Qiye, Li Ting
Department of Pathology, Peking University First Hospital, Beijing 100034, China.
Singlera Genomics Inc., Shanghai 201318, China.
J Thorac Dis. 2019 Dec;11(12):4992-5003. doi: 10.21037/jtd.2019.12.25.
Some drugs that target molecular pathways are available for the targeted treatment of lung cancer. Multiple tests are needed to detect the status of the known molecular targets to determine whether the patients can respond to the drugs. An integrated platform for various gene alteration detection including both mutations and rearrangements is necessary for patients, especially those without enough tissue.
In our study, detections of mutations, rearrangement, rearrangement, and alterations of other nine important lung cancer-related genes were integrated into a single next-generation sequencing (NGS) platform. The NGS analysis was performed in 107 cases of non-small cell lung cancer (NSCLC). Meanwhile, hot spots such as L858R, E746-A750Del mutations and gene rearrangement of and were detected by immunohistochemical (IHC) staining.
NGS could explore various gene mutations and gene rearrangements with a reduced experiment time and lower amounts of tumor tissues than multiple IHC staining experiments. NGS results were more informative and reliable than IHC staining for gene alterations, especially for the exon 19 region. NGS could also increase the positive rate of rearrangement and decrease the false positive results of rearrangements detected by IHC staining.
NGS is effective for confirmation the status of various important lung cancer-related gene alterations. Furthermore, NGS is necessary for the confirmation of the IHC results of and rearrangements.
一些针对分子通路的药物可用于肺癌的靶向治疗。需要进行多项检测以检测已知分子靶点的状态,从而确定患者是否能对这些药物产生反应。对于患者,尤其是那些组织样本不足的患者,一个能够整合包括突变和重排在内的各种基因改变检测的综合平台是很有必要的。
在我们的研究中,将 突变、重排以及其他九个重要肺癌相关基因的改变检测整合到一个单一的二代测序(NGS)平台。对107例非小细胞肺癌(NSCLC)患者进行了NGS分析。同时,通过免疫组化(IHC)染色检测了如L858R、E746 - A750Del突变以及 基因重排等热点区域。
与多次免疫组化染色实验相比,NGS能够在更短的实验时间和更少的肿瘤组织量下探索各种基因突变和基因重排。对于 基因改变,NGS结果比免疫组化染色更具信息量且更可靠,尤其是在外显子19区域。NGS还能提高 重排的阳性率,并减少免疫组化染色检测 重排时的假阳性结果。
NGS对于确认各种重要肺癌相关基因改变的状态是有效的。此外,对于确认 和 重排的免疫组化结果,NGS是必要的。