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基于下一代测序的高级软组织和骨肉瘤的基因组分析

Yasemin Gündoğdu¹, Elif Şenocak Taşçı², Leyla Özer³

¹Department of Internal Medicine, Acıbadem MAA University, Istanbul, Türkiye.

Frontiers in oncology

|October 20, 2025

概括

下一代测序 (NGS) 在22.2%的肉瘤患者中发现了可操作的突变,使得向治疗成为可能. 这突出了NGS.

科学领域:

在瘤学瘤学.
基因组学就是基因组学.
精准医学是一门精准的医学.

背景情况:

软瘤,软组织 (STS) 和骨的罕见间瘤,在转移性疾病中具有有限的治疗选择和低的存活率.
下一代测序 (NGS) 在肉瘤管理中的临床实用性的证据仍然有限.
目前针对肉瘤的治疗策略往往不足,特别是在晚期.

研究的目的:

为了确定瘤中可向的基因组改变,以指导治疗决策.
探索下一代测序 (NGS) 在发现罕见癌症治疗点方面的潜力.
评估将基因组分析整合到肉瘤患者的临床实践中的可行性.

主要方法:

对81名患有STS和骨肉瘤的患者进行了回顾性多中心分析.
下一代测序 (NGS) 使用四种不同的套件进行,以调查突变概况.
分析的重点是确定可操作的突变和潜在的向疗法.

主要成果:

在90.1%的患者中检测到基因组改变,其中复制数放大 (26.9%) 和删除 (24.7%) 是最常见的.
在22.2%的患者中发现了适用于FDA批准治疗的可操作突变.
最常见的基因变异包括TP53 (38%),RB1 (22%) 和CDKN2A (14%). 所有患者的微观卫星稳定.

结论:

将NGS衍生的遗传见解集成到临床实践中,对于改善肉瘤存活率和治疗结果至关重要.
通过识别可向的基因组改变,NGS促进了个性化的治疗方法.
作为一个诊断工具,NGS被证明是有价值的,导致四名患者的重新分类,以及治疗决策.

关键词:

一个分子的分子分子分子.这是下一代测序.肉瘤肉瘤是一种肉瘤.软组织软组织组织.有针对性的治疗.

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