Description and purpose
The project aims to investigate the spatial heterogeneity of multiple myeloma through innovative approaches based on liquid biopsy, integrated with imaging data and bone microenvironment analyses. The goal is to develop a non-invasive diagnostic model capable of representing the genomic and spatial complexity of the disease, improving biological and clinical patient characterization at diagnosis.
Purpose
The project seeks to validate liquid biopsy as a molecular characterization and risk stratification tool in newly diagnosed multiple myeloma patients, integrating it with genomic analyses and imaging data. It will also explore the interactions between myeloma cells and the bone microenvironment to identify biological factors that promote plasma cell dissemination and disease progression.
Expected results
The study is expected to demonstrate that liquid biopsy can capture the genomic and spatial heterogeneity of multiple myeloma, providing a more comprehensive picture than traditional bone marrow biopsy. Integration with imaging and transcriptomic analyses of the bone microenvironment will enable the identification of novel risk biomarkers and the development of more precise diagnostic and monitoring strategies.
Achieved results
To date, 35 of the planned 50 newly diagnosed multiple myeloma patients have been enrolled. Paired samples of CD138+ plasma cells and cell-free (cf)DNA from peripheral blood have been collected for each patient. Baseline bone marrow immunophenotyping and quantification of circulating myeloma cells have been completed. Annotation of bone microenvironment subpopulations is ongoing to correlate transcriptional alterations with spatial heterogeneity.
