Translocation t(4;8) Diagnostic Method for Adrenocortical Carcinoma
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Solution Overview
Problem
Current diagnostic methods for Adrenocortical Carcinoma (ACC) are inadequate, with no sensitive or specific way to distinguish it from benign adenomas, leading to challenging treatment decisions and ineffective therapies, and there is a lack of molecular tests to evaluate treatment efficacy.
Innovation Solution
A confirmatory diagnostic method involving the detection of a specific translocation abnormality t(4;8) (p16.2; p23.1) in cells using karyotyping, FISH, PCR, and sequencing techniques, along with the use of transgenic animals and pharmaceutical agents to identify therapeutic targets.
Engineering Contradictions & Design Principles
Engineering Contradiction Analysis
1Measurement precision
If current diagnostic methods (tumor size and histopathological features) are used to diagnose ACC, then the diagnostic process is simple, but the diagnostic accuracy and ability to distinguish ACC from benign adenomas is poor
Solution Approach 1:
The patent introduces molecular markers (specific gene expression profiles and genetic mutations) as intermediary substances that mediate between the tumor tissue and the diagnostic conclusion. These molecular markers serve as objective indicators that bridge the gap between simple histological examination and accurate malignancy determination, enabling differentiation between ACC and benign adenomas through quantifiable molecular signatures rather than subjective histological interpretation
Solution Approach 2:
The patent replaces the mechanical/histological diagnostic system (microscopic examination of tissue architecture and cellular morphology) with a molecular-based diagnostic system. Instead of relying on pathologists to visually assess histopathological features, the invention uses molecular profiling techniques (gene expression analysis, mutation detection) to objectively identify ACC, substituting the mechanical examination process with molecular detection methods that provide higher precision
2Reliability
If no molecular tests are available for ACC, then the treatment decision process is straightforward, but treatment efficacy cannot be properly evaluated and therapy selection is ineffective
Solution Approach 1:
The patent establishes a feedback mechanism where molecular markers are used to monitor treatment response in real-time. By measuring changes in the expression levels of specific genes or the presence/absence of certain mutations before and during treatment, the system provides feedback on whether the therapy is effectively targeting the tumor, enabling dynamic adjustment of treatment strategies based on molecular response rather than waiting for clinical outcomes
Solution Approach 2:
The patent develops molecular testing platforms that serve multiple functions: they can diagnose ACC, predict treatment response, monitor disease progression, and evaluate therapy efficacy all through the same molecular marker panel. This multi-functional approach eliminates the need for separate diagnostic and monitoring tests, making the molecular testing system universally applicable throughout the entire treatment continuum
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 a reliable diagnostic tool for ACC, enabling early identification of circulating tumor cells and potential therapeutic agents, improving treatment efficacy and reducing side effects.
Implementation Method 1
the procedure comprises one or more probes having sequence complementary to a sequence specific to t(4;8) (p16.2; p23.1)
Implementation Method 2
analyzing nucleic acid sequences specific to t(4;8) (p16.2; p23.1) using PCR, hybridization, sequencing, or any combination thereof
Data Source
AI summary
This invention identifies and provides a recurrent translocation t(4;8) (p16.2; p23.1) associated with Adrenocortical Carcinoma, and diagnostic methods using the translocation by FISH hybridization or PCR based assays.