液体活检——膀胱癌循环肿瘤DNA（ctDNA）分析
Liquid Biopsy-Analysis of Circulating Tumor DNA (ctDNA) in Bladder Cancer.
作者信息
Todenhöfer Tilman, Struss Werner J, Seiler Roland, Wyatt Alexander William, Black Peter C
机构信息
Department of Urology, University Hospital, Tübingen, Germany.
Vancouver Prostate Centre, University of British Columbia, Vancouver, BC, Canada.
出版信息
Bladder Cancer. 2018 Jan 20;4(1):19-29. doi: 10.3233/BLC-170140.
Abstract
Recent advances in DNA profiling techniques have enabled sensitive detection of tumor-associated genomic aberrations in peripheral blood. This type of minimally-invasive molecular interrogation has the potential to guide subsequent treatment selection. The potential utility of ctDNA in bladder cancer (BC) is bolstered by the high somatic mutation rate, meaning that very small numbers of genes or target regions can be informative. First reports indicate that analysis of ctDNA may represent a sensitive method for disease surveillance in patients with different stages of BC. Moreover, recent evidence suggests that ctDNA analysis reveals previously unknown genomic alterations in metastatic patients. Since some of these gene alterations represent therapeutic targets, ctDNA analysis provides an attractive tool to guide individualized therapy in BC.
摘要
DNA 分析技术的最新进展已能够在外周血中灵敏检测肿瘤相关的基因组畸变。这种微创分子检测方法有潜力指导后续的治疗选择。膀胱癌（BC）中高体细胞突变率增强了循环肿瘤DNA（ctDNA）的潜在效用，这意味着极少量的基因或靶区域就可能提供有用信息。首批报告表明，ctDNA 分析可能是 BC 不同阶段患者疾病监测的一种灵敏方法。此外，最近的证据表明，ctDNA 分析揭示了转移性患者中以前未知的基因组改变。由于其中一些基因改变代表治疗靶点，ctDNA 分析为指导 BC 的个体化治疗提供了一个有吸引力的工具。
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