Cancer Evolution and Genome Instability Laboratory, The Francis Crick Institute, London, UK.
Cancer Genome Evolution Research Group, University College London Cancer Institute, University College London, London, UK.
Cancer Discov. 2021 Apr;11(4):916-932. doi: 10.1158/2159-8290.CD-20-1559.
During cancer evolution, constituent tumor cells compete under dynamic selection pressures. Phenotypic variation can be observed as intratumor heterogeneity, which is propagated by genome instability leading to mutations, somatic copy-number alterations, and epigenomic changes. TRACERx was set up in 2014 to observe the relationship between intratumor heterogeneity and patient outcome. By integrating multiregion sequencing of primary tumors with longitudinal sampling of a prospectively recruited patient cohort, cancer evolution can be tracked from early- to late-stage disease and through therapy. Here we review some of the key features of the studies and look to the future of the field. SIGNIFICANCE: Cancers evolve and adapt to environmental challenges such as immune surveillance and treatment pressures. The TRACERx studies track cancer evolution in a clinical setting, through primary disease to recurrence. Through multiregion and longitudinal sampling, evolutionary processes have been detailed in the tumor and the immune microenvironment in non-small cell lung cancer and clear-cell renal cell carcinoma. TRACERx has revealed the potential therapeutic utility of targeting clonal neoantigens and ctDNA detection in the adjuvant setting as a minimal residual disease detection tool primed for translation into clinical trials.
在癌症演进过程中,组成肿瘤的细胞在动态选择压力下相互竞争。可以观察到表型变异,即肿瘤内异质性,这是由基因组不稳定性导致的突变、体细胞拷贝数改变和表观遗传变化所推动的。TRACERx 研究于 2014 年成立,旨在观察肿瘤内异质性与患者预后之间的关系。通过对原发性肿瘤进行多区域测序,并对前瞻性招募的患者队列进行纵向采样,可从早期疾病到晚期疾病以及治疗过程中跟踪癌症的演进。本文将回顾该研究的一些关键特征,并展望该领域的未来。意义:癌症会进化和适应环境挑战,如免疫监视和治疗压力。TRACERx 研究在临床环境中追踪癌症的演进,从原发性疾病到复发。通过多区域和纵向采样,在非小细胞肺癌和透明细胞肾细胞癌中详细描述了肿瘤和免疫微环境中的进化过程。TRACERx 揭示了靶向克隆性新生抗原和 ctDNA 检测在辅助治疗中的潜在治疗效用,作为一种微小残留疾病检测工具,为临床试验的转化做好了准备。