勇敢的新世界:在直肠癌治疗中分析分子测序的早期临床经验
Jared T Yee1, Ahmed A Eltahir2, Oluseye K Oduyale2
1Section of Colon and Rectal Surgery, Department of Surgery, Washington University School of Medicine, St. Louis, Missouri.
Diseases of the colon and rectum
|August 26, 2025
概括
在直肠癌的基因检测显示使用越来越多. 循环瘤DNA (ctDNA) 显示出评估治疗反应的前景,与体内下一代测序 (NGS) 不同.
科学领域:
- 癌症学
- 遗传学
- 分子诊断
背景情况:
- 基因测序技术如体内下一代测序 (NGS) 和循环瘤DNA (ctDNA) 测试正在推进直肠癌的治疗.
- 这些基因技术的确切临床含义尚未完全理解.
研究的目的:
- 评估直肠癌患者使用基因测序的模式.
- 评估基因测序在直肠癌治疗中的临床效用.
主要方法:
- 从2017年1月到2024年4月,在一个癌症中心对251名直肠癌患者进行了回顾性队列分析.
- 分析包括体质瘤测序和ctDNA分析.
- 评估结果是对全新辅助疗法 (TNT) 的反应,局部复发和远程转移.
主要成果:
- 在2017年至2024年期间,体内NGS和ctDNA测试的使用量显著增加.
- 瘤突变负担与治疗反应,复发或转移无关.
- 在TNT后的ctDNA阳性与残留疾病有很强的相关性 (灵敏度:76.5%,特异性:82.4%),瘤无关的ctDNA测试显示出比瘤知情测试更高的灵敏度.
结论:
- 仅体内NGS在直肠癌治疗中具有有限的预后或预测效用.
- ctDNA测试显示出对TNT反应的评估具有显著的前景,特别是对瘤无关的平台.
- 为了将这些基因技术纳入直肠癌治疗的临床指南,需要进行进一步的前性研究.
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