Multiple Myeloma - Rafael Fonseca

Global High-Resolution Genomics Studies in MM and Related B-cell Malignancies

In recent years, we have utilized high-resolution high throughput platforms to obtain genomic view of aberrations in myeloma and related B-cell malignancies such as Waldenstrom macroglobulinemia (WM) and chronic lymphocytic leukemia (CLL). These studies have the potential of uncovering new genetic abnormalities and novel deregulated pathways in these diseases, and establish relationship between them. These new insights will ultimately lead to better ways of diagnosing, prognosticating and treating these diseases. In this regards, we have:

• Shown that the molecular phenotype of WM (a lymphoma with an admix of cancerous lymphocytes and plasma cells) is closer to CLL than MM and identify deregulated pathways specific to WM for further studies (Chng et al Blood 2006; 108: 2755-2763)
• Shown that RB1 is the most likely critical gene deleted on chromosome 13 in myeloma and provide insights into its likely path mechanism in myeloma using an integrate genomics approach.