genomic imprinting testing for diagnosis of bladder cancer

Conditions: Bladder Cancer; Urine Marking; Diagnoses Disease

Summary: urine analysis provide a promising non-invasive liquid biopsy for diagnosis of bladder cancer. molecular biomarkers in urine may serve as important diagnostic and prognostic indicators for bladder cancer. many alterations of genes and proteins have been identified in the urinary for diagnosis of bladder cancer. however, not all bladder cancer patients have the same alterations due to tumor heterogeneity. thus, to reach satisfactory sensitivity and specificity a new diagnostic molecular alteration should exists ubiquitously in cancers. numerous studies indicate that loss of imprinting (loi) exists ubiquitously in cancers and precede morphological changes. the investigators will conduct a prospective evaluation of a panel of loi changes in urine test for detection and surveillance of bladder cancer patients.

during the progression of tumor, molecular changes in both genomics and epigenomics occur prior to morphological changes in cells and tissues, therefore molecular biological test is more sensitive to detect cancer at early stage. genomic imprinting is one kind of epigenetic regulation that controls gene expression. in detail, a copy of gene on the certain maternal or paternal allele is silenced through methylation, while the other acts normally. this kind of genes are named imprinting genes. loss of imprinting and copy number variation (loi \& cnv) is epigenetic change that the silenced copy of an imprinting gene is activated through demethylation. numerous studies indicate that loi exists ubiquitously in cancers and precede morphological changes. in contrast, loi rarely happens in normal somatic cells. therefore, the methylation status of imprinting genes can act as a biomarker to detect and analyze the abnormal cells. the investigators will develop a couple of common loi to establish a predictive diagnostic loi panel in urine with optimal and robust efficacy in diagnosis of bladder cancer by analyzing loi in urine from bladder cancer patients and control group that without any tumor in urinary system or other organs. moreover, the changes of loi in urine collected before and 1 year after transurethral resection of non-muscle invasive bladder cancer (nimbc) will also be monitored. external consistency validation will be performed on subsequent urine from patients and control participants collection.

Eligibility criteria:
inclusion criteria: - 1. patients diagnosed with of bladder cancer by cystoscopy and biopsy. 2. participants without any tumor disease and willing to attend the study by providing morning urine. 3. moring urine and available tumor tissue obtained by biopsy. 4. male or female patients aged \>= 18 years. 5. participants signed informed consent form. exclusion criteria: - 1. age under 18 years 2. individuals unwilling to sign the irb-approved consent form and unwilling to follow the protocol to submit the serial urine for test after surgery 3. comorbidities that will prohibit or make serial urine collection and cystoscopic examination difficult or impossible during follow up. 4. prior diagnosis of cancer except bladder cancer

Keywords: bladder cancer genomic imprinting urine biomarker diagnosis surveillance