FLT3 Gene Amplification Composition for Simultaneous ITD and TKD Detection

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Solution Overview

Problem

Current methods for detecting FLT3-ITD and TKD mutations in acute myeloid leukemia (AML) have low sensitivity and cannot accurately measure mutation length or sequence, leading to inadequate diagnosis, prognosis prediction, and drug resistance determination.

Innovation Solution

A composition using specific primer sets for simultaneously amplifying the ITD and TKD regions of the FLT3 gene, enabling high-sensitivity and accurate detection through next-generation sequencing (NGS).

Engineering Contradictions & Design Principles

VSEngineering Contradiction Analysis

1Measurement precision

If PCR and electrophoresis are used for FLT3-ITD mutation detection, then the method is simple and quick, but the sensitivity is very low (10%) and cannot accurately measure mutation length and sequence

Engineering Contradiction:
Improvemutation detection sensitivityVSAvoiddetection method complexity
Core Design Contradiction:
Measurement precisionVSDevice complexity

Solution Approach 1:

The patent combines PCR amplification with fragment analysis and sequencing capabilities into an integrated detection system. The primer sets are designed to amplify both ITD and TKD regions simultaneously, merging multiple detection functions into a single assay that achieves high sensitivity (3%) while maintaining operational efficiency.

Inventive Principle:
Principle #5Merging (Combining)

Solution Approach 2:

The patent introduces fragment analysis as an intermediary step between PCR amplification and final mutation detection. This intermediate analysis method enables accurate measurement of mutation length and sequence while maintaining the simplicity of the overall workflow, serving as a bridge between basic PCR and complex sequencing methods.

Inventive Principle:
Principle #24Intermediary (Mediator)

2Measurement precision

If fragment analysis is used to quantitatively analyze amplified products, then sensitivity improves to about 3% and ITD length can be measured, but sequence analysis is not provided and sensitivity does not reach the level of 10^-4

Engineering Contradiction:
ImproveITD length measurement accuracyVSAvoidsequence analysis capability
Core Design Contradiction:
Measurement precisionVSLoss of information

Solution Approach 1:

The patent designs primer sets that serve multiple functions: amplifying ITD regions, amplifying TKD regions, enabling fragment analysis for length measurement, and providing sequence analysis capability. This multi-functional approach eliminates the need for separate assays for each function, achieving both ITD length measurement and sequence analysis in a single test while maintaining high sensitivity.

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

3Reliability

If multiple separate tests are performed for ITD and TKD mutations, then comprehensive mutation detection is achieved, but diagnostic time and testing complexity increase

Engineering Contradiction:
Improvecomprehensive mutation detectionVSAvoiddiagnostic time
Core Design Contradiction:
ReliabilityVSLoss of time

Solution Approach 1:

The patent merges detection of ITD and TKD mutations into a single simultaneous amplification assay using specially designed primer sets. This combined approach enables comprehensive mutation detection in one test, eliminating the need for separate ITD and TKD testing protocols, thereby reducing diagnostic time while maintaining high reliability.

Inventive Principle:
Principle #5Merging (Combining)

Solution Approach 2:

The patent performs preliminary amplification of both ITD and TKD regions in a single PCR reaction before proceeding to analysis. This preliminary combined amplification step streamlines the entire diagnostic workflow, allowing subsequent fragment analysis and sequencing to be performed on a single amplified product rather than requiring multiple separate test cycles.

Inventive Principle:
Principle #10Preliminary action

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

Enables rapid and accurate diagnosis of AML, prognosis prediction, and drug resistance determination in AML patients with FLT3-ITD mutations, improving diagnostic and therapeutic strategies.

Implementation Method 1

a composition for amplifying an FLT3 gene, and the use thereof. More specifically, to a composition containing primer sets for simultaneously amplifying an ITD detection region and a TKD mutation region of FLT3 genes

Methodology Applied
Scientific EffectPolymerase chain reaction (PCR):

Data Source

PatentEP4578962A1Composition for amplifying FLT3 gene, and uses thereof
Publication Date: 2025.07.02 NGENEBIO
  • EP4578962A1 patent drawingFigure 1
  • EP4578962A1 patent drawingFigure 2
  • EP4578962A1 patent drawingFigure 3(A)~3(B)

AI summary

The present invention relates to a composition for amplifying a FLT3 gene, and uses thereof, and, more particularly, to a composition comprising a primer set capable of simultaneously amplifying an ITD detection region and a TKD mutation region of the FLT3 gene, and uses thereof. The composition for gene amplification, according to the present invention, enables the simultaneous performance of: diagnosis of acute myeloid leukemia (AML) in patients having FLT3-ITD mutations; determination of targeted anticancer treatment prescription for AML patients having FLT3-ITD mutations; detection of minimal residual disease (MRD) in AML patients; prognosis prediction in AML patients; and identification of drug resistance to AML tyrosine kinase inhibitors, and thus, shortens the time to derive analysis results from samples and enables efficient testing. The present invention enables the selection of correct and rapid diagnosis and treatment methods in the treatment of patients with acute myeloid leukemia, and thus is useful for early treatment and recurrence prevention.