Liquid biopsies: genotyping circulating tumor DNA.
Liquid biopsies: genotyping circulating tumor DNA.
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DOI：
10.1200/jco.2012.45.2011
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发表时间：
2014-02-20
期刊：
影响因子：
--
通讯作者：
Bardelli A
中科院分区：
文献类型：
--
作者：
Diaz LA Jr;Bardelli A
对肿瘤组织进行基因分型以寻找体细胞遗传改变以获得可操作信息已成为临床肿瘤学的常规实践。虽然这些序列改变是高度信息化的，但是肿瘤组织取样具有显著的固有局限性;肿瘤组织是时间上的单一快照，受到肿瘤异质性导致的选择偏倚的影响，并且可能难以获得。DNA的无细胞片段由经历凋亡或坏死的细胞脱落到血流中，并且循环无细胞DNA（cfDNA）的负荷与肿瘤分期和预后相关。此外，DNA分析的灵敏度和准确性的最新进展已经允许cfDNA的基因分型用于肿瘤中发现的体细胞基因组改变。检测和量化肿瘤突变的能力已被证明在真实的时间内有效地跟踪肿瘤动力学以及用作液体活检，其可用于以前不可能的各种临床和研究应用。
Genotyping tumor tissue in search of somatic genetic alterations for actionable information has become routine practice in clinical oncology. Although these sequence alterations are highly informative, sampling tumor tissue has significant inherent limitations; tumor tissue is a single snapshot in time, is subject to selection bias resulting from tumor heterogeneity, and can be difficult to obtain. Cell-free fragments of DNA are shed into the bloodstream by cells undergoing apoptosis or necrosis, and the load of circulating cell-free DNA (cfDNA) correlates with tumor staging and prognosis. Moreover, recent advances in the sensitivity and accuracy of DNA analysis have allowed for genotyping of cfDNA for somatic genomic alterations found in tumors. The ability to detect and quantify tumor mutations has proven effective in tracking tumor dynamics in real time as well as serving as a liquid biopsy that can be used for a variety of clinical and investigational applications not previously possible.