医学
液体活检
基因分型
T790米
肺癌
活检
病理
分子诊断学
肿瘤科
计算生物学
生物信息学
内科学
癌症
腺癌
基因
基因型
遗传学
生物
ROS1型
作者
Jonathan W. Goldman,Zorawar S. Noor,Jordi Remón,Benjamin Besse,Nitzan Rosenfeld
标识
DOI:10.1093/annonc/mdx706
摘要
Molecular profiling has changed the treatment landscape in advanced non-small-cell lung cancer. Accurately identifying the tumours that harbour sensitizing EGFR mutations, the most common targetable molecular alteration, as well as those with acquired resistance mutations (e.g. T790M) on treatment is a high clinical priority. The current clinical gold standard is genotyping of tumour specimens. However, the practical utility of this approach is limited by the lack of available tissue and the potential complications associated with biopsies. With the advent of newer sequencing assays, it has become feasible to assess tumour genomics via a blood sample, termed a ‘liquid biopsy’. In this review, we summarize the available techniques for liquid biopsies and their applicability for detecting sensitizing and resistance EGFR mutations and how these results may be used for making treatment decisions.
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