液体活检在基于基因组学的肿瘤学中的现状与未来展望。

Current and future perspectives of liquid biopsies in genomics-driven oncology.

机构信息

Institute of Human Genetics, Diagnostic and Research Center for Molecular BioMedicine, Medical University of Graz, Graz, Austria.

BioTechMed-Graz, Graz, Austria.

出版信息

Nat Rev Genet. 2019 Feb;20(2):71-88. doi: 10.1038/s41576-018-0071-5.

DOI:10.1038/s41576-018-0071-5

PMID:30410101

Abstract

Precision oncology seeks to leverage molecular information about cancer to improve patient outcomes. Tissue biopsy samples are widely used to characterize tumours but are limited by constraints on sampling frequency and their incomplete representation of the entire tumour bulk. Now, attention is turning to minimally invasive liquid biopsies, which enable analysis of tumour components (including circulating tumour cells and circulating tumour DNA) in bodily fluids such as blood. The potential of liquid biopsies is highlighted by studies that show they can track the evolutionary dynamics and heterogeneity of tumours and can detect very early emergence of therapy resistance, residual disease and recurrence. However, the analytical validity and clinical utility of liquid biopsies must be rigorously demonstrated before this potential can be realized.

摘要

精准肿瘤学旨在利用癌症的分子信息来改善患者的治疗效果。组织活检样本被广泛用于肿瘤特征分析，但受到采样频率的限制，且不能完整代表整个肿瘤块。现在，人们开始关注微创的液体活检，它可以分析体液（如血液）中的肿瘤成分（包括循环肿瘤细胞和循环肿瘤 DNA）。液体活检具有巨大的应用潜力，研究表明其可以跟踪肿瘤的进化动态和异质性，并能够检测出治疗耐药性、残留疾病和复发的早期迹象。然而，在实现这一潜力之前，液体活检的分析有效性和临床实用性必须经过严格的验证。