Princess Margaret Cancer Centre, University Health Network, Division of Medical Oncology and Hematology, Toronto, Ontario, Canada.
Nature. 2013 Sep 19;501(7467):355-64. doi: 10.1038/nature12627.
Recent therapeutic advances in oncology have been driven by the identification of tumour genotype variations between patients, called interpatient heterogeneity, that predict the response of patients to targeted treatments. Subpopulations of cancer cells with unique genomes in the same patient may exist across different geographical regions of a tumour or evolve over time, called intratumour heterogeneity. Sequencing technologies can be used to characterize intratumour heterogeneity at diagnosis, monitor clonal dynamics during treatment and identify the emergence of clinical resistance during disease progression. Genetic interpatient and intratumour heterogeneity can pose challenges for the design of clinical trials that use these data.
近年来,肿瘤学领域的治疗进展得益于对肿瘤患者之间的肿瘤基因型变异的识别,这些变异被称为患者间异质性,可预测患者对靶向治疗的反应。同一患者的肿瘤不同区域可能存在具有独特基因组的癌细胞亚群,或者随时间推移而进化,这被称为肿瘤内异质性。测序技术可用于在诊断时描述肿瘤内异质性,监测治疗期间的克隆动力学,并在疾病进展过程中识别临床耐药性的出现。遗传的患者间和肿瘤内异质性给使用这些数据的临床试验设计带来了挑战。