Towards a non-invasive molecular test for bladder cancer

 描述（由申请人提供）：膀胱癌（BCa）是全球五种最常见的恶性肿瘤之一。仅在美国，2012年新的BCa病例估计为73，500例，估计死亡人数为14，880例。大多数膀胱肿瘤是非肌肉浸润性的，可以通过经尿道切除肿瘤进行治疗，然而，超过70%的BCa患者在诊断后的前两年内会复发。这种复发现象使BCa成为全球最常见的癌症之一。此外，一旦接受治疗，患者将接受常规膀胱镜检查的持续监测，以检测新的肿瘤发展，因此BCa的医疗费用是一个主要负担。该项目的总体目标是开发可以通过尿液分析实现准确、无创检测BCa的检测方法。使用高通量基因组分析技术，我们已经获得了一系列分子特征，这些特征优于目前用于BCa检测的任何尿液分析方法。第一个具体目标是使用替代技术验证这些特征的组件的诊断准确性。目标是确定该方法的技术和科学价值。将设计进一步的具体目标，以确定将选定的基于核酸的分子特征开发为具有临床实用性的稳健检测方法的可行性。在拟定研究结束时，检测试剂盒将准备用于临床开发。开发用于膀胱癌检测和疾病状态评估的非侵入性尿液检测方法将对患者和医疗保健系统带来巨大益处。

 DESCRIPTION (provided by applicant): Bladder cancer (BCa) is among the five most common malignancies worldwide. In the US alone, new BCa cases for 2012 are estimated at 73,500 with estimated deaths at 14,880. At presentation, the majority of bladder tumors are non‐muscle invasive, and can be treated by transurethral resection of the tumor, however, more than 70% of patients with BCa will have a recurrence during the first two years after diagnosis. This recurrence phenomenon makes BCa one of the most prevalent cancers worldwide. Furthermore, once treated, patients are under continued surveillance with routine cystoscopy for detection of new tumor development, so the healthcare costs of BCa are a major burden. The overall goal of this project is to develop assays that can achieve the accurate, non‐invasive detection of BCa via urinalysis. Using high‐throughput genomic profiling technologies, we have derived a series of molecular signatures that outperform any currently used urinalysis assay for BCa detection. The first specific aims are designed to validate the diagnostic accuracy of components of these signatures using alternative techniques. The goal is to establish the technical and scientific merit of the approach. Further specific aims will be designed to determine the feasibility of developing selected nucleic acid‐based molecular signatures into robust assays with clinical utility. At the end of the proposed study, assays will be ready for development for use in the clinic. The development of non‐invasive, urine based assays for bladder cancer detection and disease status evaluation will be of tremendous benefit to both patients and the healthcare system.