在患有转移性乳腺癌的患者中,通过多项测试进行液体活检剖析
Nikki Higa1,2, Lisa Welter1,3, Liya Xu1,4,5
1Convergent Science Institute in Cancer, Michelson Center for Convergent Bioscience, University of Southern California, Los Angeles, CA 90089, USA.
概括
这项试点研究展示了转移性乳腺癌的多站点液体活检框架. 该框架成功识别了可操作的突变,并显示了不同测序平台的一致性,支持未来的生物标志物开发.
科学领域:
- 在瘤学瘤学.
- 基因组学就是基因组学.
- 翻译研究是翻译研究.
背景情况:
- 液体活检测对癌症管理至关重要.
- 癌症血液分析图谱 (BloodPAC) 联盟促进了合作研究.
- 液体活检平台的标准化对于临床实施是必要的.
研究的目的:
- 为了展示一个多站点液体活检测试验框架.
- 在转移性乳腺癌患者中分析无细胞DNA (cfDNA) 突变.
- 在现实环境中评估不同测序平台的一致性.
主要方法:
- 使用了38名转移性乳腺癌患者的纵向血液样本.
- 三个实验室使用不同的向测序平台来分析cfDNA.
- 进行了cfDNA和循环瘤细胞 (CTC) 的全基因组拷贝数分析.
主要成果:
- 突变资料揭示了常见的乳腺癌变异,在40%的激素受体阳性患者中发现了可操作的突变.
- 对于12个共享基因在检测极限以上的突变,观察到完美的测试间一致性.
- cfDNA瘤分数和CTC丰度显示出显著的患者间异质性和补充信息.
结论:
- 描述的多站点框架是未来液体活检生物标志物试验的可行资源.
- 结合cfDNA和CTC的多式液体活检方法可以提供互补的见解.
- 该框架支持开发液体活检试验,以指导乳腺癌的临床护理.
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