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患者生物流体中肿瘤相关循环DNA的检测与监测

Detection and Monitoring of Tumor Associated Circulating DNA in Patient Biofluids.

作者信息

Bonner Erin R, Saoud Karim, Lee Sulgi, Panditharatna Eshini, Kambhampati Madhuri, Mueller Sabine, Nazarian Javad

机构信息

Center for Genetic Medicine, Children's National Health System; Institute for Biomedical Sciences, The George Washington University School of Medicine and Health Sciences.

Center for Genetic Medicine, Children's National Health System.

出版信息

J Vis Exp. 2019 Jun 8(148). doi: 10.3791/59721.

Abstract

Complications associated with upfront and repeat surgical tissue sampling present the need for minimally invasive platforms capable of molecular sub-classification and temporal monitoring of tumor response to therapy. Here, we describe our dPCR-based method for the detection of tumor somatic mutations in cell free DNA (cfDNA), readily available in patient biofluids. Although limited in the number of mutations that can be tested for in each assay, this method provides a high level of sensitivity and specificity. Monitoring of mutation abundance, as calculated by MAF, allows for the evaluation of tumor response to therapy, thereby providing a much-needed supplement to radiographic imaging.

摘要

与初次和重复手术组织采样相关的并发症表明,需要能够对肿瘤治疗反应进行分子亚分类和时间监测的微创平台。在此,我们描述了一种基于数字PCR的方法,用于检测患者生物流体中易于获取的游离DNA(cfDNA)中的肿瘤体细胞突变。尽管每次检测可检测的突变数量有限,但该方法具有高度的敏感性和特异性。通过计算MAF来监测突变丰度,能够评估肿瘤对治疗的反应,从而为影像学检查提供急需的补充。

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