Molecular-Functional Profiles for Gene-Group Cancer Classification

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Solution Overview

Problem

Existing technologies lack the ability to accurately characterize cancer types in patients and select effective therapies based on molecular-functional profiles, which is crucial for personalized care and prognosis.

Innovation Solution

Systems and methods for generating molecular-functional (MF) profiles by determining gene group expression levels from RNA expression data or whole exome sequencing data, clustering these profiles into distinct clusters, and associating them with specific cancer types, visualizing the profiles in a graphical user interface (GUI).

Engineering Contradictions & Design Principles

VSEngineering Contradiction Analysis

1Measurement precision

If molecular-functional profiles are generated using RNA expression data and whole exome sequencing data to characterize cancer types, then measurement precision is improved, but device complexity increases

Engineering Contradiction:
Improvecancer type characterization accuracyVSAvoidsystem complexity
Core Design Contradiction:
Measurement precisionVSDevice complexity

Solution Approach 1:

The system segments the complex molecular-functional profile analysis into distinct gene groups (tumor-promoting immune microenvironment, anti-tumor immune microenvironment, angiogenesis, fibroblast, and malignancy gene groups). Each gene group is analyzed separately to determine specific expression levels, which are then integrated to generate the overall MF profile. This segmentation reduces the complexity of handling all genes simultaneously while maintaining measurement precision.

Inventive Principle:
Principle #1Segmentation

Solution Approach 2:

The patent introduces an intermediary computational system that processes raw RNA expression data and whole exome sequencing data through multiple analysis layers. The system uses intermediate representations (gene group expression levels) as mediators between the raw data and final cancer type characterization, simplifying the overall process while maintaining accuracy.

Inventive Principle:
Principle #24Intermediary (Mediator)

2Measurement precision

If multiple gene group expression levels are determined for each subject, then measurement precision is improved, but loss of time increases

Engineering Contradiction:
Improvegene group expression level accuracyVSAvoidprocessing time
Core Design Contradiction:
Measurement precisionVSLoss of time

Solution Approach 1:

The system performs preliminary actions by pre-defining the gene groups and their associated genes before analysis. The five gene groups (tumor-promoting immune microenvironment, anti-tumor immune microenvironment, angiogenesis, fibroblast, and malignancy) are established in advance with their respective gene members identified. This preliminary organization allows for more efficient processing during the actual analysis phase, reducing the time required to determine expression levels for each gene group.

Inventive Principle:
Principle #10Preliminary action

3Reliability

If MF profile clusters are generated and stored in databases for comparison, then reliability is improved, but loss of substance increases

Engineering Contradiction:
Improveprognosis prediction reliabilityVSAvoiddata storage requirements
Core Design Contradiction:
ReliabilityVSLoss of substance

Solution Approach 1:

The system extracts and stores only the essential clustered MF profile data in databases, rather than storing complete raw data for all subjects. The clustering process identifies representative profile patterns (four main clusters: inflamed/vascularized, inflamed/non-vascularized, non-inflamed/vascularized, non-inflamed/non-vascularized), and only these clustered representations are stored for comparison. This extraction approach maintains reliability for prognosis prediction while significantly reducing data storage requirements.

Inventive Principle:
Principle #2Taking out (Extraction)

Data Source

PatentEP4012713B1Systems and methods for generating, visualizing and classifying molecular functional profiles
Publication Date: 2025.10.29 BOSTONGENE CORP
  • EP4012713B1 patent drawingFigure 1A
  • EP4012713B1 patent drawingFigure 1B
  • EP4012713B1 patent drawingFigure 1C

AI summary

Various methods, systems, computer-readable storage media, and graphical user interfaces (GUIs) are presented and described that enable a subject, doctor, or user to characterize or classify various types of cancer precisely. Additionally, described herein are methods, systems, computer-readable storage media, and GUIs that enable more effective specification of treatment and improved outcomes for patients with identified types of cancer.