Genetic testing offers valuable insight into cancer-linked genes and genetic mutations that may be precursors to the development of cancer. However, with increased insight into the genetic mutations associated with cancer, there is an increased need to understand which mutations are problematic and which only warrant careful monitoring for changes. A new genomic test developed by researchers at Dana-Farber Cancer Institute helps doctors to determine whether patients who have smoldering multiple myeloma (an early form of multiple myeloma) are at high risk for subsequently progressing to full-blown multiple myeloma.

Smoldering multiple myeloma (SMM) is a plasma-cell disorder, which is a disease of a specific type of white blood cell (plasma cell) found in bone marrow. This condition is asymptomatic but can progress into multiple myeloma (MM), a cancer of the plasma cells in bone marrow. However, with no treatment for SMM, doctors must monitor SMM to watch for the symptoms of myeloma. Current treatment is commonly known as “watchful waiting.” This new study at Dana-Farber was designed to help doctors determine which mutations in the bone marrow of SMM patients carried the highest risk of disease progression.

Researchers identified three mutations in tissue samples that were associated with an increased rate and speed of disease progression: certain genetic mutations in the MAPK pathway, amplification or translocation of the MYC gene and a mutation or deletion in the TP53 gene. Both in the study and in a validity test, these three variations were all associated with progression to multiple myeloma.

By testing tissue samples in SMM patients for these three mutations, doctors can identify the highest risk patients and schedule regular monitoring for disease progression. This added insight can enable physicians to provide the best possible care after an SMM diagnosis, whether a patient has high-risk mutations or not.