乳腺癌中循环瘤DNA:从一系列病例的诊断见解
Cortney McKay1, Tasnim Rahman2, Bipin Ghimire1
1Hematology and Medical Oncology, Henry Ford Health System, Detroit, USA.
Cureus
|February 6, 2026
概括
循环瘤DNA (ctDNA) 测试有助于检测最小残留疾病 (MRD) 和指导精确治疗乳腺癌,当组织活检是不可行的. 这种方法有助于识别复发和可操作的基因组变化.
科学领域:
- 在瘤学瘤学.
- 分子诊断学 分子诊断
- 基因组学就是基因组学.
背景情况:
- 循环瘤DNA (ctDNA) 是癌症监测的关键生物标志物,包括治疗反应和最小残留疾病 (MRD) 检测.
- 组织学组织诊断是确认恶性瘤的标准,但根据NCCN和ESMO指南,ctDNA可以补充当组织不可用时.
- 解释ctDNA结果需要临床和放射学相关性,如果可能,最好采用组织确认.
研究的目的:
- 提出一系列案例,证明基于ctDNA的MRD检测在乳腺癌中的实用性.
- 突出ctDNA在识别复发和指导精确疗法的作用,当组织活检是不可行的或不确定的.
主要方法:
- 在三名乳腺癌患者中检测MRD的ctDNA分析.
- 通过ctDNA分析识别可操作的基因组变化.
- ctDNA发现与临床和放射学数据的相关性.
主要成果:
- 基于ctDNA的MRD检测成功地确定了所有三种病例的复发.
- 在ctDNA中确定了可操作的基因组改变,指导精确治疗.
- 当组织活检是不可行的或产生不确的结果时,ctDNA成为一个至关重要的工具.
结论:
- 基于ctDNA的MRD检测是监测乳腺癌复发和指导治疗的宝贵工具.
- 在组织活检具有挑战性的情况下,ctDNA分析为个性化治疗提供了关键的基因组信息.
- 这一案例系列强调了ctDNA作为瘤学中补充诊断和治疗指导工具的潜力.
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