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液体活检中突变状态评估用于监测转移性结直肠癌患者的疾病进展。

Evaluation of Mutational Status in Liquid Biopsy to Monitor Disease Progression in Metastatic Colorectal Cancer Patients.

机构信息

Department of Experimental and Clinical Medicine, University of Florence, 50134 Florence, Italy.

Complex Dynamics Study Centre (CSDC), University of Florence, 50100 Florence, Italy.

出版信息

Cells. 2023 May 24;12(11):1458. doi: 10.3390/cells12111458.

Abstract

In this study we evaluated both~ K- and N- mutations in plasma samples from patients with metastatic colorectal cancer by means of the BEAMing technology, and we assessed their diagnostic performance compared to analyses performed on tissue. The sensitivity of BEAMing in identifying mutations was of 89.5%, with a fair specificity. The agreement with tissue analysis was moderate. The sensitivity for was high with a good specificity, and the agreement between tissue analysis and BEAMing was fair. Interestingly, significantly higher mutant allele fraction (MAF) levels were detected in patients with G2 tumors, liver metastases, and in those who did not receive surgery. MAF level was significantly higher in patients with mucinous adenocarcinoma and for those with lung metastases. A sharp increase in the MAF values was observed in patients who moved towards disease progression. More strikingly, molecular progression always anticipated the radiological one in these patients. These observations pave the way to the possibility of using liquid biopsy to monitor patients during treatment, and to enable oncologists to anticipate interventions compared to radiological analyses. This will allow time to be saved and ensure a better management of metastatic patients in the near future.

摘要

在这项研究中,我们通过 BEAMing 技术评估了转移性结直肠癌患者血浆样本中的 K 和 N 突变,并评估了它们与组织分析相比的诊断性能。BEAMing 识别 突变的灵敏度为 89.5%,特异性尚可。与组织分析的一致性为中等。对于 ,灵敏度较高,特异性较好,组织分析与 BEAMing 之间的一致性尚可。有趣的是,在 G2 肿瘤、肝转移和未接受手术的患者中,检测到的突变等位基因分数 (MAF) 水平显著更高。在黏液性腺癌患者和肺转移患者中,MAF 水平显著更高。在疾病进展的患者中,MAF 值明显升高。更引人注目的是,在这些患者中,分子进展总是先于影像学进展。这些观察结果为使用液体活检在治疗期间监测患者,并使肿瘤学家能够与影像学分析相比提前干预铺平了道路。这将节省时间,并确保在不久的将来更好地管理转移性患者。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/65d9/10253213/5d3d23d1672a/cells-12-01458-g001.jpg

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