全基因组测序的作用,以指导软组织肉瘤患者的全身治疗
P van der Laan1, W J van Houdt2, H van Boven3
1Department of Surgical Oncology, Netherlands Cancer Institute, Amsterdam, the Netherlands; Department of Medical Oncology, Netherlands Cancer Institute, Amsterdam, the Netherlands.
ESMO open
|June 12, 2025
概括
全基因组测序 (WGS) 在46%的软组织肉瘤 (STS) 病例中确定了可操作的目标,在14%的病例中指导治疗. 优化WGS时间和患者选择可以提高其临床效用,特别是复杂基因组肉瘤.
科学领域:
- 在瘤学瘤学.
- 基因组学就是基因组学.
- 医学诊断 医学诊断 医学诊断
背景情况:
- 全基因组测序 (WGS) 越来越多地用于检测瘤中临床相关的DNA异常.
- 软组织肉瘤 (STS) 管理可以从精确的分子诊断中受益.
研究的目的:
- 评估全基因组测序 (WGS) 是否可以改善软组织肉瘤 (STS) 个性化系统治疗的指导.
主要方法:
- 从电子记录和病理学报告中分析了来自161名STS患者的WGS数据.
- 可采取行动的目标被定义为WGS时可用的全身疗法选择的基因组改变.
- 在初级STS进行WGS时,预后不佳,转移性STS或需要广泛的分子诊断.
主要成果:
- 全基因组测序 (WGS) 在46%的STS患者中确定了至少一个可操作的目标.
- 在复杂基因组肉瘤 (50%) 中,可采取行动的目标比简单基因组肉瘤 (28%) 更常见.
- 14%的患者接受了WGS-informed治疗,原因包括治疗不可用或疾病迅速进展.
结论:
- 全基因组测序 (WGS) 是一种有价值的工具,用于识别软组织肉瘤 (STS) 的可操作目标,在14%的病例中影响治疗.
- 改进WGS请求时间和患者选择可以增加其治疗应用.
- 复杂基因组瘤代表了WGS实用性的有前途的组,可能使瘤不可知治疗成为可能.
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