Somatic Alteration Detection in Disseminated Cancer Cells
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Solution Overview
Problem
Current methods for cancer staging and treatment are inadequate due to the inability to accurately determine the stage or type of cancer early on, leading to ineffective therapies and resistance, particularly in cases of metastasis, as they rely on late-dissemination models rather than parallel progression models.
Innovation Solution
A method involving the detection of somatic alterations in DNA of disseminated cancer cells from lymph nodes to determine the somatic evolution, which is indicative of the cancer stage or type, allowing for more accurate staging and tailored therapy decisions.
Engineering Contradictions & Design Principles
Engineering Contradiction Analysis
1Measurement precision
If conventional cancer staging methods based on late-dissemination models are used, then the staging process is simple and relies on standard clinical assessments, but the accuracy of determining cancer stage and type is insufficient, leading to ineffective therapy selection
Solution Approach 1:
The patent applies preliminary action by performing genomic sequencing of disseminated cancer cells (DCCs) in lymph nodes before initiating cancer therapy. This early molecular characterization allows determination of cancer stage and type prior to treatment, enabling selection of appropriate therapy without waiting for disease progression or metastasis manifestation. The somatic alteration profiling is conducted in advance to guide therapeutic decisions.
Solution Approach 2:
The patent uses somatic alterations in DCCs as an intermediary marker to indirectly assess cancer stage and type. Instead of directly observing tumor size or metastasis extent, the method employs molecular signatures (genomic, epigenomic, transcriptomic alterations) as intermediate indicators that correlate with disease progression stage, providing a more accurate and earlier assessment of cancer status.
2Reliability
If therapy is initiated without accurate molecular characterization of DCCs, then treatment can start promptly, but therapy resistance develops due to inability to target specific genetic alterations
Solution Approach 1:
The patent performs molecular characterization of DCCs through genomic sequencing before therapy initiation. This preliminary action identifies specific somatic alterations (mutations, copy number variations, epigenetic changes) that define the cancer's molecular profile, enabling selection of targeted therapies that match the patient's specific genetic alterations, thereby improving treatment effectiveness from the outset.
Solution Approach 2:
The patent employs feedback by using the molecular profile of DCCs (somatic alterations detected through sequencing) to guide therapeutic decisions. The information obtained from characterizing DCC genetics feeds back into treatment selection, allowing clinicians to choose therapies targeted at specific molecular alterations present in the patient's cancer cells, creating a closed-loop system that adapts treatment to individual molecular characteristics.
3Measurement precision
If standard clinical staging based on tumor size and metastasis extent is used, then the staging approach is straightforward and widely applicable, but it fails to detect early molecular changes in DCCs that indicate cancer progression
Solution Approach 1:
The patent uses somatic alterations in DCCs as molecular intermediaries to detect early cancer progression. Instead of directly measuring tumor size or metastatic burden, the method employs genetic, epigenetic, and transcriptomic changes in DCCs as intermediate markers that reflect disease stage and progression, enabling detection of molecular changes before anatomical changes become apparent.
Solution Approach 2:
The patent replaces mechanical/physical assessment methods (tumor measurement, imaging-based staging) with molecular analysis methods. Instead of relying on physical dimensions and anatomical observations, the invention uses genomic sequencing, epigenomic profiling, and transcriptomic analysis to determine cancer stage, substituting mechanical measurement systems with molecular characterization systems that provide higher sensitivity and earlier detection.
Data Source
AI summary
The present invention relates to methods for diagnosing, staging and treating cancer, in particular melanoma. In particular, the present invention provides methods for determining the stage/type of a cancerous disease, comprising detecting somatic alterations of the DNA of one or more disseminated cancer cells (DCCs), obtained after homing to a distant organ, such as lymph node; and determining the somatic evolution of the DCC(s) based on the detected somatic alterations, wherein the somatic evolution is indicative of the stage/type of the cancerous disease.


