An Sungbin, Koh Hyun Hee, Chang Eun Sol, Choi Juyoung, Song Ji-Young, Lee Mi-Sook, Choi Yoon-La
Department of Health Science and Technology, Samsung Advanced Institute for Health Sciences & Technology (SAIHST), Sungkyunkwan University, Seoul, South Korea.
Laboratory of Molecular Pathology and Theranotics, Samsung Medical Center, School of Medicine, Sungkyunkwan University, Seoul, South Korea.
Front Oncol. 2022 Aug 10;12:892918. doi: 10.3389/fonc.2022.892918. eCollection 2022.
Detection of oncogenic fusion genes in cancers, particularly in the diagnosis of uncertain tumors, is crucial for determining effective therapeutic strategies. Although novel fusion genes have been discovered through sequencing, verifying their oncogenic potential remain difficult. Therefore, we evaluated the utility of targeted RNA sequencing in 165 tumor samples by identifying known and unknown fusions. Additionally, by applying additional criteria, we discovered eight novel fusion genes that are expected to process oncogenicity. Among the novel fusion genes, RAF1 fusion genes were detected in two cases. PTPRG-RAF1 fusion led to an increase in cell growth; while dabrafenib, a BRAF inhibitor, reduced the growth of cells expressing RAF1. This study demonstrated the utility of RNA panel sequencing as a theragnostic tool and established criteria for identifying oncogenic fusion genes during post-sequencing analysis.
在癌症中检测致癌融合基因，尤其是在诊断不明确的肿瘤时，对于确定有效的治疗策略至关重要。尽管通过测序发现了新的融合基因，但验证它们的致癌潜力仍然困难。因此，我们通过识别已知和未知融合来评估靶向RNA测序在165个肿瘤样本中的效用。此外，通过应用额外标准，我们发现了八个预期具有致癌性的新融合基因。在这些新融合基因中，有两例检测到RAF1融合基因。PTPRG-RAF1融合导致细胞生长增加；而BRAF抑制剂达拉非尼则降低了表达RAF1的细胞的生长。本研究证明了RNA panel测序作为一种治疗诊断工具的效用，并建立了在测序后分析过程中识别致癌融合基因的标准。
