Moving Towards Minimally Invasive Genomically Based Diagnosis and Monitoring of Bladder Cancer

摘要: Benign and malignant cells shed DNA into the circulation when dying or through active secretion. Tracking these tumour fragments has recently been shown to be feasible for diagnosing cancer, monitoring treatment response, detecting recurrence, predicting response therapy [1]. Circulating (ctDNA) can also found in urine (uctDNA) [2], which may particularly useful diagnosis of urothelial carcinoma (UC). The major challenge ctDNA diagnostics is identify track raremutated out thousands ofwildtype (normal) copies—similar searching a needle haystack. This overcome by using next-generation sequencing (NGS) at very high read depths applyingmutation-specific polymerase chain reaction (PCR) approaches, such as digital PCR (dPCR). NGS allows rapid acquisition large amounts genomic data but limited time-consuming analysis. With dPCR, parallel PCRs are performed simultaneously, each evaluated individually, with every leading binary (ie, digital) result (positive negative). approach sensitive detection singlemutations currently used confirmation mutations that present low percentages (<2%) However, dPCR test specific one mutation must individually designed from profile given tissue. Once established, personalised assay highly specific, fast, costeffective, more than (sensitivity approximately 0.01% vs 2%) [1,3,4]. It even quantitative analysis purpose [5].