We hear a lot about high risk genetic features in myeloma, but what about patients who have better-than-average outcomes? In a recent study, it was found that myeloma patients who have more than two copies of chromosome 9 and a low genetic scar score, have the best outcomes. About 17% of newly diagnosed patients had multiple copies of chromosome 9 and had a superior outcomes.
We know that not all myeloma is the same. This "heterogeneity" in myeloma, like in other cancers, affects cellular pathways in the myeloma clone, the tumor microenvironment which promotes myeloma cell growth and drug resistance, and overcomes immune system surveillance.
In the ASCO published paper, Dana Farber researchers analyzed whole genome sequencing data from a 2009 IFM/DFCI 2009 study from 183 patients with newly diagnosed myeloma who were previously treated with lenalidomide, bortezomib and dexamethasone alone or in combination with autologous stem cell transplant.
The researchers created a genomic scar score (GSS), or the number of genetic mutations found. Patients with a score of 5 or less were considered to have a low genetic scar score. They also studied "hyperdiploid" myeloma, or myeloma that has the presence of more than two copies chromosomes (having three copies [trisomies] or four copies [tetrasomies] of the chromosome).
Here were key findings:
The findings were independent of ISS staging, how a patient responded to treatment and the achievement of minimal residual disease (MRD) negativity.
It is important to note that hyperdiploidy in myeloma patients has always been considered to be a good prognosis factor. In this study, over 90% of patients in the "good risk group" were hyperdiploid, but only 31% of the patients with hyperdiploid myeloma fell into the "good risk group." So hyperdiploid myeloma is not all the same when it comes to outcomes. There are clearly low-risk and high-risk hyperdiploid subgroups.
The whole genome sequencing performed in this study is deeper genetic testing than the testing received by the average patient. However, most of us have received the FISH test which can identify trisomies and tetrasomies and other mutations like gains, deletions or translocations. The FISH test can identify extra copies of chromosome 9. Take a look at your prior FISH tests today and then join HealthTree to record your results. This will help you keep track of your mutations and you can see if and how they are changing over time. Myeloma does change as patients receive more treatment and can pick up new genetic mutations. Then we can share the anonymous, collective findings with the myeloma research and patient community.
You can join HealthTree to keep a record of your FISH and other genetic test results (like Next Generation Sequencing and Gene Expression Profiling). You can also record your prior treatments. Once you have them recorded, you can find your genetic "twin" to see which treatments they received, how long their remission was, and compare their genetics to yours. This is all done anonymously. HealthTree was created so we can learn together using real world, validated data.
about the author
Myeloma survivor, patient advocate, wife, mom of 6. Believer that patients can help accelerate a cure by weighing in and participating in clinical research. Founder of HealthTree Foundation (formerly Myeloma Crowd).