液体活检
基因分型
数字聚合酶链反应
体细胞
医学
活检
胎儿游离DNA
循环肿瘤细胞
病理
计算生物学
生物
基因型
基因
癌症
聚合酶链反应
遗传学
内科学
转移
胎儿
产前诊断
怀孕
作者
Luis A. Díaz,Alberto Bardelli
标识
DOI:10.1200/jco.2012.45.2011
摘要
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.
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