在精密癌症医学中应用综合分子遗传分析,匈牙利的经验
Erika Tóth1, Zsófia Kürönya2, Edina Soós2
1National Institute of Oncology, National Tumor Biology Laboratory, Budapest, Hungary; Department of Surgical and Molecular Pathology, National Institute of Oncology, Budapest.
Acta oncologica (Stockholm, Sweden)
|June 17, 2024
概括
使用下一代测序 (NGS) 的综合基因分析 (CGP) 在45%的癌症患者中确定了可操作的目标. 超过14%接受了向治疗,其中8.5%显示出积极的临床反应,证明了CGP.
科学领域:
- 在瘤学瘤学.
- 分子遗传学 分子遗传学
- 基因组医学是基因组医学.
背景情况:
- 分子遗传测试,特别是下一代测序 (NGS) 面板,加速了针对癌症患者基于遗传改变的向治疗方法的识别.
- 匈牙利实施了一个由国家分子瘤委员会协调的综合基因分析 (CGP) 的中央批准系统,涵盖患者选择和治疗费用.
研究的目的:
- 在综合癌症中心环境中评估综合基因分析 (CGP) 的临床益处.
- 评估基于NGS的大型基因面板的实用性,以确定不同癌症患者群体中可操作的基因变异.
主要方法:
- 在2021年,CGP被整合到常规的临床实践中,使用基于NGS的小组 (>500基因).
- 测试是在国家分子瘤委员会批准的病例上进行的.
- 在2021年至2023年8月期间,对163名患者进行了测试,主要是ECOG 0-1,晚期疾病,罕见组织学或未知的原发性瘤患者.
主要成果:
- 在163名患者中有74名 (45%) 发现了临床相关的遗传变化.
- 三十四名患者 (20.9%) 有变体表明已批准的标签治疗,而40名患者 (24.5%) 有变体表明非标签治疗建议.
- 24名患者 (14.7%) 根据CGP结果接受了向治疗,其中14名患者 (8.5%) 经历了超过16周的积极临床反应 (客观反应或稳定疾病).
结论:
- 基于NGS的CGP已经成功实施,为大量癌症患者提供了显著的好处.
- 这些初步发现支持启动药物重新发现协议 (DRUP) 研究,以进一步探索基于综合基因测试的治疗策略.
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