Liver Tumor Detection via DNA Methylation Analysis

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Solution Overview

Problem

Current methods for detecting liver cancer biomarkers are inefficient due to the low amount of extracellular free DNA available in biological samples, leading to a low early diagnosis rate and a heavy clinical treatment burden.

Innovation Solution

A method for identifying and assessing liver tumors using methylation markers, specifically determining the methylation status of DNA regions containing target genes such as SEPT9 and IKZF1, to improve early screening and diagnosis.

Engineering Contradictions & Design Principles

VSEngineering Contradiction Analysis

1Measurement precision

If traditional tumor marker detection methods are used, then the detection process is simple, but the early diagnosis rate is low due to insufficient sensitivity with limited free DNA

Engineering Contradiction:
Improveearly diagnosis rateVSAvoiddetection method complexity
Core Design Contradiction:
Measurement precisionVSDevice complexity

Solution Approach 1:

The patent segments the detection process into multiple specialized steps: selective enrichment of tumor-derived free DNA from plasma, targeted methylation analysis of specific genomic regions, and sequential detection of multiple methylation markers. This segmentation allows each step to be optimized for sensitivity, thereby improving early diagnosis rate while managing complexity through systematic organization

Inventive Principle:
Principle #1Segmentation

Solution Approach 2:

The patent introduces methylation status analysis as an intermediary marker that bridges the gap between limited free DNA availability and accurate tumor detection. By detecting methylation patterns in free DNA rather than directly detecting tumor cells or proteins, the method amplifies the detectable signal from minimal DNA samples, improving measurement precision without requiring complex device infrastructure

Inventive Principle:
Principle #24Intermediary (Mediator)

2Measurement precision

If more free DNA is obtained from biological samples, then the detection accuracy improves, but the sample processing time and complexity increase

Engineering Contradiction:
Improvedetection accuracyVSAvoidsample processing time
Core Design Contradiction:
Measurement precisionVSLoss of time

Solution Approach 1:

The patent performs preliminary enrichment of tumor-derived free DNA from plasma samples before main detection. By pre-concentrating the target DNA and pre-selecting relevant methylation markers based on sample characteristics, the method reduces the time needed for subsequent analysis while maintaining high detection accuracy

Inventive Principle:
Principle #10Preliminary action

Solution Approach 2:

The patent applies local quality by focusing detection resources on specific high-value genomic regions with tumor-specific methylation patterns rather than analyzing the entire genome. This targeted approach to specific DNA regions and markers maximizes detection accuracy per unit time by concentrating analytical power where it yields the highest diagnostic value

Inventive Principle:
Principle #3Local quality

3Adaptability or versatility

If multiple tumor markers are detected simultaneously, then the comprehensive assessment capability improves, but the detection system complexity increases

Engineering Contradiction:
Improvecomprehensive assessment capabilityVSAvoiddetection system complexity
Core Design Contradiction:
Adaptability or versatilityVSDevice complexity

Solution Approach 1:

The patent develops a universal detection platform that can simultaneously analyze multiple methylation markers across different cancer types using the same basic methodology and equipment. The system is designed to detect various tumor markers through a unified approach to methylation analysis, enabling comprehensive cancer screening without requiring separate specialized systems for each marker or cancer type

Inventive Principle:
Principle #6Universality (Multi-functionality)

Solution Approach 2:

The patent merges the detection of multiple methylation markers into a single integrated analysis workflow. By combining the detection of several tumor markers in one test system and analyzing multiple genomic regions simultaneously, the method achieves comprehensive assessment capability while avoiding the need for multiple separate detection systems, thereby managing overall system complexity

Inventive Principle:
Principle #5Merging (Combining)

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 enhances the efficiency of early screening and diagnosis of liver tumors, addressing the low early diagnosis rate and reducing the clinical treatment burden by utilizing effective methylation markers.

Implementation Method 1

determining the presence and/or the content of modification status of a DNA region in which a target gene is located or a fragment thereof in a sample to be tested, wherein the target gene comprises SEPT9 and IKZF1

Methodology Applied
Scientific EffectDNA methylation:

Data Source

PatentUS20250188544A1Tumor evaluation method and application
Publication Date: 2025.06.12 SINGLERA GENOMICS (JIANGSU) LTD
  • US20250188544A1 patent drawing
  • US20250188544A1 patent drawing
  • US20250188544A1 patent drawing

AI summary

Provided are a tumor evaluation method and an application. Specifically, provided is a method for confirming the existence of liver tumors, evaluating the formation or formation risk of liver tumors and/or evaluating the progress of liver tumors, and the method comprises: evaluating the existence and/or the content of a modification state of a DNA region or a fragment thereof wherein a group of marker genes is in a sample to be tested. The present invention also relates to nucleic acids, a nucleic acid group, and/or a kit for evaluating modification states of a group of DNA regions, and a preparation method therefor.