Dr. Fonseca's Multiple Myeloma Laboratory at Mayo Clinic. Unraveling a genetic cascade

As an award-winning physician-scientist, Dr. Fonseca is investigating the genetic nature of the clonal cells of plasma cell disorders, identifying prognostic markers and developing new therapies to improve outcomes for patients with blood disorders.


The Multiple Myeloma Laboratory, led by Rafael Fonseca, M.D., is dedicated to advancing scientific understanding about the blood cancer multiple myeloma, including disease subtypes, high-risk markers and the genetic cascade that leads to multiple myeloma.

Our work has important clinical implications, since we now know that multiple myeloma has disease subtypes that can affect patient outcomes. Patients with high-risk markers, for example, may need different or more-intense treatment than do those who don't have these markers.

Our lab also plays an important role in the support of clinical trial-related activities. Dr. Fonseca is the principal investigator on several multiple myeloma trials, including trials for relapsed or refractory multiple myeloma and studies engaged in the collection and processing of bone marrow and peripheral blood tissue samples for ongoing research projects.

We believe that the development of multiple myeloma is best understood by the study of monoclonal gammopathy of undetermined significance (MGUS). The MGUS-to-myeloma progression model allows us to understand factors important in initiating, maintaining and transforming a benign precancerous condition (MGUS) to the cancerous stage of the disease (myeloma). Our lab uses a variety of equipment, technology and tools to help understand the genetic events that lead to multiple myeloma, including:

  • Molecular genetics
  • Fluorescence in situ hybridization (FISH)
  • Array comparative genomic hybridization (aCGH)
  • Global expression profiling

Our research primarily focuses on:

  • Origin of the MGUS clone and genomic instability
  • Progression from MGUS to myeloma
  • Clinical significance of chromosomal abnormalities in myeloma
  • Molecular studies of genetic abnormalities in clonal cells of light chain amyloidosis
  • Molecular studies of genetic abnormalities in clonal cells of Waldenstrom macroglobulinemia

About Dr. Fonseca

In addition to leading the Multiple Myeloma Lab, Dr. Fonseca is a hematologist at Mayo Clinic in Phoenix/Scottsdale, Arizona, who cares for patients with multiple myeloma and related conditions, amyloidosis, and other blood disorders. Dr. Fonseca is chair of the Department of Internal Medicine in Arizona and is the Getz Family Professor of Cancer. He is also a leader in the Multiple Myeloma SPORE at Mayo Clinic. His research has been funded by the National Cancer Institute, the Leukemia and Lymphoma Society, the Multiple Myeloma Research Foundation and the Damon Runyon Cancer Research Foundation. Dr. Fonseca has given many national and international presentations as a visiting professor, and has authored hundreds of published research articles in addition to book chapters, editorials, abstracts and letters.