Melanoma accounts for 5% of skin tumors but causes 80% of skin cancer-related deaths. At diagnosis, 90% of cases are confined to the skin without evidence of metastasis. However, current diagnostic methods are inadequate for assessing biological aggressiveness in cases with uncertain malignant potential (UMP). Additionally, the relationship between tumor morphology and clinical behavior is unclear, leading to disagreements among pathologists and affecting diagnostic accuracy and treatment outcomes.
Researchers from INCLIVA (Health Research Institute) and the University of Valencia (UV) in Spain have developed a molecular signature based on epigenetic markers that, through an algorithm, diagnoses Spitz cutaneous tumors with UMP. This technology not only distinguishes between benign Spitz nevi (non-cancerous moles) and spitzoid melanomas but also classifies UMPs by their risk of metastasis and clinical progression.
The approach is based on Reduced Representation Bisulfite Sequencing (RRBS-Seq) to identify mutation patterns associated with melanoma. The algorithm analyses seven specific methylation sites across three distinct genes. It facilitates accurate diagnosis and differentiation between benign and malignant melanomas, allowing for further subclassification of the tumors. By leveraging these methylation markers, the technology aims to enhance the precision of melanoma diagnosis and potentially improve patient management strategies through more personalized treatment options.
INCLIVA and UV are performing some activities to increase the TRL:
- Expansion of the patient cohort to validate the technology.
- Study of other pre-sequencing techniques to reduce the cost of the analysis.
- Patent has been applied for in Europe EP22738431 and United States US8574568.
Advantages:
- Allows for follow-up planning based on each patient’s individual risk, reducing the anxiety of uncertainty and the discomfort experienced by patients and their families due to constant medical check-ups.
- It avoids the need for invasive and costly surgical techniques, such as sentinel lymph node biopsy or regional lymphadenectomy.
- Streamlines healthcare systems by reducing the need for constant patient appointments and shortening medical and surgical waiting lists.
The represented institution is looking for a collaboration that leads to commercial exploitation of the presented invention.
Institution: INCLIVA, Universidad de Valencia
TRL: 4-5
Protection status: Patent Application
Financed: This technology is promoted by INCLIVA’s Business Innovation Scientific Unit (UCIE) funded by IVACE+i through the INNVA2/2024/1 project.
Contact: Nuria Bas / tech@viromii.com
