When Should Myelofibrosis Mutational Testing Be Repeated?
When should myelofibrosis mutational testing be repeated? Dr. Pemmaraju discusses the importance of retesting at key points and how mutations impact care and treatment plans.
Dr. Naveen Pemmaraju is Director of the Blastic Plasmacytoid Dendritic Cell Neoplasm (BPDCN) Program and Professor in the Department of Leukemia at The University of Texas MD Anderson Cancer Center. Learn more about Dr. Pemmaraju.
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Transcript:
Katherine Banwell:
“I understand that mutational testing should be done at diagnosis. Is there a point where there would be a need to repeat this test?”
Dr. Naveen Pemmaraju:
Oh, that’s an awesome question. So, we were mentioning that earlier. I do believe and I advocate that all patients should have molecular testing, particularly now as it’s more available widely before it wasn’t. Again, we level set what we’re talking about. In myelofibrosis, three common driver mutations, JAK2, CALR, MPL makes up about 90 percent.
Then in addition to that, there’s the triple-negative, and you usually find an additional mutation. Then on top of these big three, it’s common to have co-mutations, ASXL1, etc. What we found in this MIPSS score that we just mentioned ties into that. We found now that for the first time, we can incorporate these molecular findings to prognosticate for the patients. That’s why it’s important to check them. So, to this question by Joel, yes, if you have access and availability, not only checking it at baseline but later on at a provoking event.
So, at the time of relapse, progression, going onto a clinical trial, just to name three of several. I think it’s a good idea to recheck the molecular status. The problem and barriers are what you would expect, cost, expense, access, availability, justification, etc., etc. So, it’s not a mandatory part of the field, especially in the standard of care, non-research aspect. However, if we can get to the point where we can do that, it would be nice and helpful because these mutations change, they’re dynamic.
You can have negative for mutation at baseline, positive, and even vice versa, depending on therapies. Are you going to go for a transplant? Are you going to go to a clinical trial? Are you changing therapy? It would be nice to know.
