A Look at Mutations in Patients with High-Risk Multiple Myeloma

Shaji Kumar, MD, professor of medicine in the Division of Hematology at the Mayo Clinic, discusses the effects genetic abnormalities have on patients with high-risk multiple myeloma. Recent advancements have helped to identify these abnormalities in patients.

The fluorescence in situ hybridization (FISH) test is the most commonly used test to discover changes in both the chromosomal and gene level. Some patients have overlapping abnormalities, such as deletion of chromosome 17p and amplification of 1q. The deletion of 17p has been associated with poor outcomes in both the newly diagnosed and relapse setting.

Certain gene expressions have been associated only in cases of high-risk multiple myeloma. These expressions cannot always be picked up with the FISH test but can be identified in other tests.

Thousands of multiple myeloma samples have been used for sequencing the mutations within these patients, leading to better predictions of outcomes. Mutations are the ultimate driving factor in the outcome of many patients, so having an understanding of these can help in treatment plans down the road.