What are the clinical implications of molecular testing in MDS?

FAQ Library published on June 12, 2017
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Ellen K. Ritchie, MD
Assistant Professor of Medicine
Leukemia Program Member
Weill Cornell Medical College
New York Presbyterian Hospital
New York, New York
What are the clinical implications of molecular testing in MDS?

Welcome to Managing MDS. I am Dr. Ellen Ritchie. I am frequently asked, “What are the clinical implications of molecular testing in MDS?” Molecular testing is relatively new to the diagnostic paradigm of looking at an MDS patient. Molecular testing, in general, consists of looking for molecular abnormalities that might confer a better prognosis and those abnormalities that may confer a worse prognosis. We currently use the IPSS (International Prognostic Scoring System) to determine what the prognosis will be for an MDS patient. In the IPSS, we look at a few things such as what the chromosomal abnormalities are inside the cells, what the percentage of blasts are in an aspirate type of bone marrow biopsy, and we look at how many cell lines are decreased or low in a patient with MDS. By looking at those three factors, we come up with a scale dividing patients into favorable, intermediate, or unfavorable prognoses. The molecular abnormalities that we find when testing MDS patients are not factored into the common IPSS-based risk factor assessments for patients with MDS.

These can be particularly helpful when trying to assess a patient for transplant who falls into a low-risk or intermediate-risk category. If we find that patients who by IPSS are in a low- or intermediate-risk category yet harbor very poor risk mutations, it may tip the balance of a clinician's recommendation to go forward for a transplant evaluation. High-risk disease by IPSS will generally correlate with high-risk disease that would be found on a molecular profile. Those patients would be counseled (if they are fit physically) to seek a transplant alternative, and these molecular abnormalities may not weigh so heavily in that recommendation in the higher-risk patient. We are just at the beginning of understanding the importance of molecular targets in myelodysplastic syndrome.

There are drugs that are in development and will be in the marketplace in 2017/2018 that will target particular mutations, particularly an IDH2. As new signal inhibitors and targets to mutated genes come out into the clinical trial market and into the marketplace, the importance of various molecular abnormalities may become greater as they will be targetable with a particular drug. This is a very exciting time to be involved in the treatment of myelodysplastic syndrome because we are in the process of understanding the mutations that may lead to this disease, and understanding that the targeting of certain mutations may improve outcome. I hope that in the next decade that we see lots of new medications targeted to the molecular abnormalities and that we see a great improvement in the response rate and overall survival of patients for MDS who are treated with these new options. Thank you for viewing this activity.

Last modified: June 9, 2017
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