Urine DNA Methylation Markers for Bladder Cancer Detection
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Solution Overview
Problem
Current diagnostic methods for bladder cancer, such as cystoscopy and urine cytology, are invasive, operator-dependent, and have low sensitivity for low-grade tumors, failing to accurately detect all stages and grades of bladder cancer, which necessitates a non-invasive, objective test with high diagnostic accuracy.
Innovation Solution
A method using novel combinations of hypermethylation markers in urine samples, specifically DNA methylation of genes like GHSR, MAL, FAM19A4, PHACTR3, PRDM14, SST, ZIC1, miR-129, miR-148, and miR-935, to classify individuals for bladder cancer or recurrent bladder cancer risk, allowing for diagnosis, prognosis, and treatment monitoring.
Engineering Contradictions & Design Principles
Engineering Contradiction Analysis
1Reliability
If flexible cystoscopy is used for diagnosis, then most cancers can be detected, but it is an invasive procedure that places significant burden on health care economics and is operator-dependent
Solution Approach 1:
The patent uses urine as an intermediary medium to detect bladder cancer markers. Instead of directly examining the bladder through cystoscopy, the method analyzes DNA methylation markers in urine samples, which serve as a non-invasive intermediary that reflects the presence of cancer without requiring direct tissue biopsy or visual inspection of the bladder interior.
Solution Approach 2:
The patent replaces the mechanical invasive procedure of cystoscopy with a biochemical analysis method. Instead of using a mechanical scope to visually detect cancer, the system uses molecular biology techniques (DNA methylation analysis) to detect cancer markers in urine, substituting mechanical examination with biochemical detection.
2Object-affected harmful factors
If urine cytology is used for diagnosis, then it is non-invasive, but it has low sensitivity for low grade tumors and depends on pathologist expertise
Solution Approach 1:
The patent changes the detection parameter from cellular morphology analysis (traditional urine cytology) to DNA methylation status analysis. By detecting methylation patterns of specific genes (such as GHSR, MAL, FAM19A4, PHACTR3, PRDM14, SST, ZIC1, and microRNAs) in urine DNA, the method achieves high sensitivity for low-grade tumors while maintaining non-invasive sampling.
3Measurement precision
If existing methylation markers are used for diagnosis, then some sensitivity can be achieved, but diagnostic accuracy for low-stage and low-grade tumors is poor
Solution Approach 1:
The patent combines multiple DNA methylation markers into a comprehensive panel that includes protein-coding genes (GHSR, MAL, FAM19A4, PHACTR3, PRDM14, SST, ZIC1) and microRNA markers (miR-129, miR-148, miR-935). This merging of multiple markers with different detection characteristics creates a synergistic effect that significantly improves diagnostic accuracy for low-stage and low-grade tumors compared to using any single marker alone.
Applied Scientific Principles
This section explains which scientific principles are used to turn an abstract innovation direction into a practical engineering solution.
Function Achieved in This Case
The method provides high sensitivity and specificity for detecting bladder cancer across all stages and grades, reducing the need for invasive procedures and improving patient outcomes by accurately identifying cancer risk and monitoring treatment effectiveness.
Implementation Method 1
determining DNA methylation of at least a first gene or a promoter region thereof and a second gene or a promoter region thereof in a urine sample from said individual
Data Source
AI summary
The invention relates to methods for detecting the presence of, or risk at, bladder cancer using novel DNA methylation markers for bladder cancer and to kits of parts useful in such methods.