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[摘要]
膀胱癌是泌尿系统最为常见的恶性肿瘤之一,传统的临床模式越来越难以满足膀胱癌诊疗精准化的需求。随着癌症基因图谱、纪念斯隆凯特琳-万人癌症基因计划和人类蛋白质图谱等海量数据的涌现,新的分子标志物及治疗靶点得以显露,为精准的膀胱癌诊断、治疗和预后判断提供更充分和可靠的依据。从而以结合临床资料与组学大数据为基础驱动的精准医学体系,将会越来越多地应用于临床。以二代基因测序和液体活检技术为代表的新型检测技术不断成熟、成本降低及卫生资源投入力度加大,其临床可及性也越来越高,可辅助医生为更多的膀胱癌患者提供更加准确有效的诊疗方案。本文主要介绍癌症精准医疗的发展及其在膀胱肿瘤领域中的研究与应用现状。
[Key word]
[Abstract]
Bladder cancer is one of the most common malignant tumors of urinary system. It has been more and more difficult to diagnose and treat bladder cancer with old clinical models. Neo-biomarkers and actionable targets emerge with the incoming big data such as TCGA (the cancer genome atlas), MSK-IMPACT (Memorial Sloan-Kettering-integrated mutation profiling of actionable cancer targets),and HPA (human protein atlas) etc, providing more sufficient and reliable basis for the precise diagnosis, treatment and prognosis of bladder cancer. Precision medicine systems based on clinical data and omics information will be applied to the clinic more widely.More investment from government, lower cost and the constant development in new techniques represented with NGS (next generation sequencing) and liquid biopsy all make the precision medicine available from bench to bed, which will provide patients with more accurate and effective diagnosis and treatment. Here, we mainly summarize the development of precision medicine and its study and clinical application in bladder cancer.
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