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基因组学在未知原发性癌症中:在现代临床实践中的实用性

A J Dooley¹, A R Bowden², H Whatling¹

¹Department of Oncology, Cambridge University Hospitals NHS Trust, Cambridge, UK.

Clinical oncology (Royal College of Radiologists (Great Britain))

|April 4, 2025

概括

基因组测序有助于识别未知的原发性癌症 (CUP) 的起源,通过向疗法和免疫疗法改善治疗结果. 常规基因组分析,包括液体活检,对于CUP患者护理和决策至关重要.

科学领域:

在瘤学瘤学.
基因组学就是基因组学.
翻译医学是一种翻译医学.

背景情况:

未知原发性癌症 (CUP) 呈现为转移性疾病,具有未确定的原发性瘤.
CUP的特点是预后不好,进展迅速,治疗选择有限,通常依赖于经验化学疗法.

研究的目的:

突出现代基因组学进步在识别CUP的起源组织 (TOO) 中所起的作用.
强调基因组数据在指导CUP患者分子向治疗和免疫治疗方面的潜力.
倡导将基因组分析常规整合到CUP的临床管理中.

主要方法:

利用全基因组和全转录组测序来分析大量的数据.
使用预测算法和人工智能将基因组数据转化为可操作的临床见解.
利用液体活检进行重复的基因组分析,特别是当组织获取具有挑战性时.

主要成果:

基因组数据驱动的临床决策在最近对CUP患者的试验中显示出更好的结果.
基因组分析可以识别主要瘤的原生组织 (TOO).
基因组洞察力促进了个性化分子向疗法和免疫疗法的应用.

结论:

基因组学的进步正在改变CUP的管理,使得精确的诊断和有针对性的治疗策略成为可能.
在诊断和整个治疗过程中进行常规基因组分析对于优化CUP患者的护理至关重要.
液体活检为CUP管理中的持续基因组监测提供了一个有希望的方法.

关键词:

癌症基因组学癌症基因组学不知原因的原发性癌症.液体活检液体活检分子瘤董事会分子瘤董事会分子导向疗法是指导分子的疗法.原产地组织原产地组织整个基因组的测序.

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