Chang Ya-Sian, Tu Siang-Jyun, Yen Ju-Chen, Lee Ya-Ting, Fang Hsin-Yuan, Chang Jan-Gowth
Epigenome Research Center, China Medical University Hospital, Taichung 404332, Taiwan.
Department of Laboratory Medicine, China Medical University Hospital, Taichung 404332, Taiwan.
Cancers (Basel). 2021 Mar 16;13(6):1343. doi: 10.3390/cancers13061343.
Analyzing fusion gene transcripts may yield an effective approach for selecting cancer treatments. However, few comprehensive analyses of fusions in non-small cell lung cancer (NSCLC) patients have been performed.
We enrolled 54 patients with NSCLC, and performed RNA-sequencing (RNA-Seq). STAR (Spliced Transcripts Alignment to a Reference)-Fusion was used to identify fusions.
Of the 218 fusions discovered, 24 had been reported and the rest were novel. Three fusions had the highest occurrence rates. After integrating our gene expression and fusion data, we found that samples harboring fusions containing , , , and also exhibited increased expression of these genes. We then searched for mutations and fusions in cancer driver genes in each sample and found that nine patients carried both mutations and fusions in cancer driver genes. Furthermore, we found a trend for mutual exclusivity between gene fusions and mutations in the same gene, with the exception of , and we found that mutations are associated with the number of fusion genes. Finally, we identified kinase gene fusions, and potentially druggable fusions, which may play roles in lung cancer therapy.
The clinical use of RNA-Seq for detecting driver fusion genes may play an important role in the treatment of lung cancer.
分析融合基因转录本可能为癌症治疗选择提供一种有效方法。然而，针对非小细胞肺癌（NSCLC）患者融合情况的全面分析却很少。
我们招募了54例NSCLC患者，并进行了RNA测序（RNA-Seq）。使用STAR（Spliced Transcripts Alignment to a Reference）-Fusion来识别融合。
在发现的218种融合中，24种已有报道，其余为新发现的。三种融合发生率最高。整合我们的基因表达和融合数据后，我们发现含有 、 、 和 的融合样本也表现出这些基因表达增加。然后我们在每个样本中搜索癌症驱动基因中的突变和融合，发现9例患者在癌症驱动基因中同时存在突变和融合。此外，我们发现除了 之外，同一基因中的基因融合和突变之间存在相互排斥的趋势，并且我们发现 突变与融合基因的数量有关。最后，我们鉴定了激酶基因融合以及可能可成药的融合，它们可能在肺癌治疗中发挥作用。
RNA-Seq在检测驱动融合基因方面的临床应用可能在肺癌治疗中发挥重要作用。
