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精确瘤学的进步:从分子分析到监管部门批准的向治疗

Petar Brlek^1,2,3,4, Vedrana Škaro², Nenad Hrvatin^1,5

¹St. Catherine Specialty Hospital, 10000 Zagreb, Croatia.

|November 13, 2025

概括

精密瘤学使用先进的测序,如全基因组测序 (WGS) 和全外基因组测序 (WES),以指导癌症治疗. 这些方法可以识别突变和生物标志物,个性化治疗以获得更好的患者结果.

科学领域:

基因组学就是基因组学.
在瘤学瘤学.
生物信息学是一种生物信息学.

背景情况:

精密瘤学已经被DNA和RNA测序技术的进步所彻底改变.
全面的基因组分析对于识别可操作的突变,生物标志物和癌症治疗点至关重要.

研究的目的:

审查整体外因组测序 (WES),全基因组测序 (WGS) 和RNA-Seq在精密瘤学的整合.
为了将基因组发现与FDA和EMA批准的针对性疗法在各种瘤类型之间的相关性.
突出基因组数据在了解癌症生物学,治疗耐药性和免疫相互作用方面的作用.

主要方法:

关于WES,WGS和RNA-Seq在瘤学中的应用的当前文献的综述.
对生物标志物的分析,例如同源重组缺陷 (HRD),瘤突变负担 (TMB) 和微卫星不稳定性 (MSI).
将基因组分析数据与已批准的向疗法和免疫疗法集成.

主要成果:

WES,WGS和RNA-Seq提供了瘤生物学的全面特征,包括突变,基因融合和途径失调.
基因组生物标志物对于患者分层和指导瘤学治疗决策至关重要.
测序数据提供了关于瘤免疫相互作用和治疗耐药性的机制的见解.

结论:

WES,WGS和RNA-Seq的协同作用,再加上生物信息学和人工智能,使得个性化癌症护理成为可能.
将基因组分析与已批准的疗法相结合,可以优化治疗策略并改善患者的治疗结果.
未来的方向包括利用全面的基因组数据用于新型治疗组合和改进癌症管理.

关键词:

有关RNA测序的RNA测序人工智能的人工智能是人工智能.免疫疗法免疫疗法个性化医疗是个性化的医疗.精确瘤学精确瘤学进行全基因组测序.

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