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临床中基于游离DNA的液体活检检测致癌分子畸变:我们做到了吗?

Testing for oncogenic molecular aberrations in cell-free DNA-based liquid biopsies in the clinic: are we there yet?

作者信息

Polivka Jiri, Pesta Martin, Janku Filip

机构信息

a Department of Histology and Embryology and Biomedical Centre, Faculty of Medicine in Plzen , Charles University in Prague , Plzen , Czech Republic.

b Department of Neurology , Faculty Hospital Plzen , Plzen , Czech Republic.

出版信息

Expert Rev Mol Diagn. 2015;15(12):1631-44. doi: 10.1586/14737159.2015.1110021. Epub 2015 Nov 11.

DOI:10.1586/14737159.2015.1110021
PMID:26559503
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5016094/
Abstract

The optimal choice of cancer therapy depends upon analysis of the tumor genome for druggable molecular alterations. The spatial and temporal intratumor heterogeneity of cancers creates substantial challenges, as molecular profile depends on time and site of tumor tissue collection. To capture the entire molecular profile, multiple biopsies from primary and metastatic sites at different time points would be required, which is not feasible for ethical or economic reasons. Molecular analysis of circulating cell-free DNA offers a novel, minimally invasive method that can be performed at multiple time-points and plausibly better represents the prevailing molecular profile of the cancer. Molecular analysis of this cell-free DNA offers multiple clinically useful applications, such as identification of molecular targets for cancer therapy, monitoring of tumor molecular profile in real time, detection of emerging molecular aberrations associated with resistance to particular therapy, determination of cancer prognosis and diagnosis of cancer recurrence or progression.

摘要

癌症治疗的最佳选择取决于对肿瘤基因组进行可用药分子改变的分析。癌症的空间和时间肿瘤内异质性带来了重大挑战,因为分子特征取决于肿瘤组织采集的时间和部位。为了获取完整的分子特征,需要在不同时间点对原发和转移部位进行多次活检,但出于伦理或经济原因,这并不可行。循环游离DNA的分子分析提供了一种新颖的、微创的方法,该方法可以在多个时间点进行,并且可能更好地代表癌症的主要分子特征。这种游离DNA的分子分析提供了多种临床有用的应用,例如识别癌症治疗的分子靶点、实时监测肿瘤分子特征、检测与特定治疗耐药相关的新出现的分子畸变、确定癌症预后以及诊断癌症复发或进展。

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Actionable mutations in plasma cell-free DNA in patients with advanced cancers referred for experimental targeted therapies.接受实验性靶向治疗的晚期癌症患者血浆游离DNA中的可操作突变。
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Characterizing the patterns of clonal selection in circulating tumor DNA from patients with colorectal cancer refractory to anti-EGFR treatment.
早期癌症检测的生物标志物:近期进展全景,聚焦胰腺癌和肝癌
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Molecular tumour boards - current and future considerations for precision oncology.分子肿瘤委员会——精准肿瘤学的当前和未来考量。
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Current and new frontiers in hereditary cancer surveillance: Opportunities for liquid biopsy.遗传性癌症监测的当前和新前沿:液体活检的机会。
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Mutation-Agnostic Detection of Colorectal Cancer Using Liquid Biopsy-Based Methylation-Specific Signatures.基于液体活检甲基化特征的无突变检测结直肠癌。
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