Genomic Analysis of Circulating Tumor Cells at the Single-Cell Level

Circulating tumor cells have great potential for noninvasive diagnosis and real-time monitoring of cancer. Here we report a comprehensive evaluation of the performance of four existing WGA/NGS workflows for genomic analysis of single CTCs, including PCR-based (GenomePlex and Ampli1), multiple displacement amplification (MDA) (Repli-g) and "Hybrid" PCR/MDA-based (MALBAC).

循环肿瘤细胞（Circulating Tumor Cells, CTCs）在癌症的无创诊断与实时监测领域具备极高应用潜力。本文针对四种现有用于单个循环肿瘤细胞基因组分析的全基因组扩增（Whole Genome Amplification, WGA）/下一代测序（Next-Generation Sequencing, NGS）工作流程的性能展开全面评估，涵盖基于聚合酶链式反应（Polymerase Chain Reaction, PCR）的GenomePlex与Ampli1、采用多重置换扩增（Multiple Displacement Amplification, MDA）技术的Repli-g，以及基于"Hybrid" PCR/MDA的MALBAC。