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Transcriptome-Based Treatment for Melanoma With Brain Metastasis: A Case Report
Mohamad Ammar Ayass1,2, Kristen Melendez3, Natalya Griko4
1Respiratory Medicine/Internal Medicine, Pulmonology, Nephrology, Ayass Bioscience LLC, Frisco, USA.
Cureus
|April 19, 2024
Summary
This study analyzed gene expression in blood and tumor tissue from a patient with metastatic melanoma to the brain. Transcriptomics identified potential biomarkers and pathways, suggesting targeted therapies like CDK4 inhibitors.
Area of Science:
- Oncology
- Genomics
- Translational Medicine
Background:
- Malignant melanoma with brain metastasis presents a significant challenge due to high mortality rates.
- Novel diagnostic and therapeutic strategies are crucial for improving patient prognosis.
Observation:
- A 60-year-old male with metastatic melanoma to the brain was analyzed using a transcriptomics pipeline on whole blood and tumor tissue.
- Gene expression analysis revealed distinct patterns of upregulated and downregulated genes and pathways in both blood and tissue samples.
Findings:
- Seven genes were upregulated and 11 downregulated in blood, with 14% pathway enrichment.
- Sixteen genes were upregulated and three downregulated in tumor tissue, with 33% pathway enrichment.
- Five shared gene markers and 12 shared pathways were identified between blood and tissue samples.
Implications:
- Overactivity in the CDK4 pathway, observed in both samples, suggests potential therapeutic targets.
- Inhibitors such as ribociclib, abemaciclib, and palbociclib are proposed as putative treatments.
- This transcriptomics approach facilitates objective, personalized therapy selection, potentially improving patient outcomes in metastatic melanoma.

