Raman Spectral Ratio Detection of KMT2A-Rearranged ALL

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Solution Overview

Problem

Current diagnostic methods for acute lymphoblastic leukemia (ALL) with KMT2A gene rearrangement are costly, invasive, and require specialized equipment and personnel, making early diagnosis in non-reference medical facilities challenging, especially for the infant population with poor treatment outcomes.

Innovation Solution

A Raman spectroscopy-based method that involves fixing lymphoblast samples with aldehyde and calculating the integral intensity ratio of 1040 cm⁻¹ to 1008 cm⁻¹ bands in Raman spectra to identify KMT2A gene rearrangement, enabling rapid, non-invasive, and low-cost diagnosis.

Engineering Contradictions & Design Principles

VSEngineering Contradiction Analysis

1Reliability

If conventional diagnostic methods (flow cytometry, molecular tests, genetic tests) are used to identify KMT2A gene rearrangement in ALL, then diagnostic accuracy and reliability are improved, but device complexity, cost, and requirement for specialized personnel increase

Engineering Contradiction:
Improvediagnostic accuracyVSAvoidequipment complexity
Core Design Contradiction:
ReliabilityVSDevice complexity

Solution Approach 1:

The patent replaces complex molecular biology equipment and procedures with Raman spectroscopy, an optical-based technique. Instead of using flow cytometry machines, PCR amplifiers, or next-generation sequencing platforms, the invention uses a Raman spectrometer to directly detect biochemical signatures of KMT2A rearrangement in lymphoblasts, substituting mechanical and chemical complex systems with a simpler optical detection method

Inventive Principle:
Principle #28Mechanics substitution (Replace mechanical system)

Solution Approach 2:

The invention changes the diagnostic parameter from molecular genetic detection (requiring DNA extraction, amplification, and sequencing) to vibrational spectral analysis. By measuring Raman shifts at specific wavenumbers (794 cm⁻¹, 1040 cm⁻¹, 1008 cm⁻¹, 1450 cm⁻¹) and calculating intensity ratios, the method transforms an complex molecular diagnostic problem into a simpler spectroscopic measurement that can be performed with minimal sample preparation

Inventive Principle:
Principle #35Parameter changes

2Reliability

If molecular and genetic tests are performed to determine leukemia subtypes, then treatment personalization and prognosis prediction are improved, but loss of time and increased cost occur

Engineering Contradiction:
Improvetreatment personalizationVSAvoiddiagnosis time
Core Design Contradiction:
ReliabilityVSLoss of time

Solution Approach 1:

The patent applies preliminary biochemical fixation of lymphoblasts with glutaraldehyde, which preserves the biochemical signatures of KMT2A rearrangement and stabilizes the samples for later analysis. This preliminary action allows samples to be prepared in advance without requiring immediate molecular testing, enabling time-efficient diagnostics while maintaining diagnostic accuracy for treatment personalization

Inventive Principle:
Principle #10Preliminary action

Solution Approach 2:

The invention replaces time-consuming molecular testing procedures (DNA extraction, PCR amplification, gel electrophoresis, or sequencing) with rapid Raman spectroscopic measurement. The spectroscopic method provides immediate spectral data that can be analyzed in real-time, dramatically reducing the time from sample collection to diagnostic result while still enabling treatment personalization based on KMT2A rearrangement detection

Inventive Principle:
Principle #28Mechanics substitution (Replace mechanical system)

3Measurement precision

If invasive bone marrow aspiration and complex immunophenotyping are used for ALL diagnosis, then measurement precision and subtype identification are improved, but ease of operation and patient burden increase

Engineering Contradiction:
Improvesubtype identification accuracyVSAvoiddiagnostic procedure simplicity
Core Design Contradiction:
Measurement precisionVSEase of operation

Solution Approach 1:

The patent extracts and analyzes only the essential Raman spectral features from lymphoblasts that are specific to KMT2A rearrangement. By focusing on four key wavenumbers (794 cm⁻¹, 1040 cm⁻¹, 1008 cm⁻¹, 1450 cm⁻¹) and their intensity ratios, the method extracts the critical diagnostic information needed for subtype identification without requiring comprehensive immunophenotyping panels or complex morphological assessments

Inventive Principle:
Principle #2Taking out (Extraction)

Solution Approach 2:

The invention uses Raman spectroscopy as an intermediary technique that bridges the gap between simple sample preparation and complex molecular diagnosis. The spectroscopic method acts as a mediator that provides molecular-level diagnostic information with minimal sample preparation, eliminating the need for invasive procedures and complex laboratory workflows while maintaining high measurement precision for ALL subtype identification

Inventive Principle:
Principle #24Intermediary (Mediator)

Data Source

PatentEP4354142B1Raman spectra based method of identifying the subtype of acute lymphoblastic leukemia with KMT2a gene rearrangement
Publication Date: 2025.12.17 JAGIELLONIAN UNIVERSITY
  • EP4354142B1 patent drawingFigure 1~2
  • EP4354142B1 patent drawingFigure 3
  • EP4354142B1 patent drawing

AI summary

A method of identifying the ALL molecular subtype with rearrangements within the KMT2A gene was disclosed, which consists in measuring the ratio of the intensity of the Raman 1040/1008 cm-1 Raman bands in leukemia cells (lymphoblasts) isolated from the peripheral blood (when blastosis >90%) or bone marrow of patients during the diagnosis of acute lymphoblastic leukemia, and fixed with an aldehyde reagent.