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错过的机会:在瘤测序后进行生殖线检测
Hannah C Karpel1, Simone Sasse2, Bhavana Pothuri1
1New York University, Department of Obstetrics and Gynecology, New York, NY, USA.
Gynecologic oncology
|June 24, 2025
概括
根据瘤下一代测序 (NGS) 结果,许多符合生殖基因测试 (GT) 资格的患者没有接受它,通常是由于缺乏转诊. 这种错过的机会可能会推迟遗传性癌症综合征的诊断.
科学领域:
- 在瘤学瘤学.
- 遗传学 是一个遗传学.
- 癌症研究 癌症研究
背景情况:
- 瘤下一代测序 (NGS) 可以揭示与癌症易感性相关的潜在生殖基DNA突变.
- 识别这些突变对于理解遗传性癌症综合征和指导治疗决策至关重要.
研究的目的:
- 确定通过瘤NGS在符合ESMO 2019生殖基因测试 (GT) 准则的患者中发现的可操作的生殖基因突变的频率.
- 调查符合条件的患者为什么不接受生殖系GT的原因.
- 评估可采取行动的突变患者中没有被转诊GT的比例.
主要方法:
- 在2019年9月至2022年2月期间接受瘤NGS的患者的回顾性研究.
- 确定符合ESMO潜在可操作的生殖系突变指南的患者.
- 在符合条件的患者中分析不接受生殖系GT的原因.
主要成果:
- 在3470名患者中,326人 (9.4%) 在瘤NGS上有潜在的可操作的生殖基因突变.
- 189名 (58.0%) 符合条件的患者没有接受生殖系GT,最常见的原因是缺乏转诊 (67.2%).
- 在未被转诊者中,50.4%的BRCA1/2和/或林奇综合征基因发生突变;62.8%的接受GT的人呈阳性.
结论:
- 根据ESMO标准,相当一部分 (60%) 符合生殖系GT的患者没有接受,主要是由于转诊不够.
- 在没有转诊GT的患者中,有一半以上患有已知癌症易感基因 (如BRCA1/2) 的突变.
- 要确保及时进行基因检测,需要改善关于生殖线合格性的教育和实施反射临床方案.
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