Research progress on fusion genes in tumours

Yinyi Chang, Zitong Zhao, Yongmei Song
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Abstract

Background

The concept of gene fusion describes the process of fusing two genes into one, which is closely linked to tumour occurrence and development and may even be the direct cause of some tumours. Due to their tumour-specific expression and ability to drive tumour occurrence and development, there is great potential for fusion genes to be used as diagnostic markers and targets for specific types of tumours.

Main body

Although many fusion genes have been detected so far, they mainly focus on a small number of highly recurrent fusion genes detected in patients' tumours. There are few studies on the functional mechanism and clinical relevance of rare gene fusions. Our review discusses the generation mechanisms, detection methods, biological functions, and mechanisms of action of fusion genes. Additionally, we discuss the clinical significance of fusion gene detection in some tumour types.

Conclusion

The function mechanism research of rare gene fusion is very necessary, and more functions of fusion genes independent of unfused/normal genes can be explored in future studies. There is still a long way to go in implementing precision tumour therapy targeting gene fusion.

Abstract Image

肿瘤融合基因研究进展
背景 基因融合的概念描述了两个基因融合为一个基因的过程,它与肿瘤的发生和发展密切相关,甚至可能是某些肿瘤的直接病因。由于融合基因在肿瘤中的特异性表达以及驱动肿瘤发生和发展的能力,它们被用作特定类型肿瘤的诊断标记物和靶点的潜力巨大。 正文 虽然迄今为止已发现了许多融合基因,但它们主要集中于在患者肿瘤中发现的少数高复发性融合基因。关于罕见基因融合的功能机制和临床意义的研究很少。我们的综述讨论了融合基因的产生机制、检测方法、生物学功能和作用机制。此外,我们还讨论了在某些肿瘤类型中检测融合基因的临床意义。 结论 对罕见基因融合的功能机制进行研究是非常必要的,在未来的研究中可以探索更多独立于未融合/正常基因的融合基因的功能。针对基因融合的肿瘤精准治疗还有很长的路要走。
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