嵌合基因是指由两个或多个原本不连续的基因片段重组而成的新基因,它们可以通过基因组重排、转录诱导等机制产生。嵌合基因在正常生理和发育过程中具有重要的功能和调控作用。嵌合基因可以改变原有基因的表达水平、编码蛋白质的结构和功能、信号通路的激活和抑制等,从而促进肿瘤细胞的增殖、侵袭、转移和耐药性。近年来,随着高通量测序技术的发展和应用,越来越多的嵌合基因被发现和鉴定,它们在不同类型的肿瘤中具有不同的表达模式和功能作用,为肿瘤的分子诊断、预后评估和靶向治疗提供了新的机会和挑战。本文旨在对嵌合基因产生的机制、检测方法和在肿瘤中的功能和应用等方面进行综述,为进一步认识嵌合基因在肿瘤进展中的功能机制及其精准化治疗提供参考。

Chimeric genes refer to novel genes formed by the recombination of two or more originally non-contiguous gene fragments through mechanisms like genomic rearrangement and transcriptional induction．They play important roles in physiological and developmental regulation．Chimeric genes can alter the expression,structure and function of original genes,modulate signaling pathway activation and inhibition,and thereby promote tumor cell proliferation,invasion,metastasis and drug resistance．In recent years,with the development and application of high-throughput sequencing technologies,increasing numbers of chimeric genes have been discovered and identified．They demonstrate different expression patterns and functional roles in various tumor types,providing new opportunities and challenges for molecular diagnosis,prognostic assessment and targeted therapy of cancers．This review summarizes the mechanisms of chimeric gene formation,detection methods and their functions and applications in tumors,to provide insights into the functional mechanisms of chimeric genes in tumor progression and their implications for precision treatment．