[ Inglês] Diagnosis and Prognosis: What Mutations Reveal About MPNs

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Topics include: Treatments and Understanding

What do these driver mutations reveal about your MPN’s disease course and behavior pattern? MPN experts, Dr. Rami Komrokji and Dr. Mark Heaney, joined us at the American Society of Hematology (ASH) 2017 annual meeting to discuss the prognostic value and associated therapies for different genetic abnormalities. Watch now to learn more about what genetic mutations indicate about prognosis for myelofibrosis (MF), polycythemia vera (PV) and essential thrombocythemia (ET).

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Please remember the opinions expressed on Patient Power are not necessarily the views of our sponsors, contributors, partners or Patient Power. Our discussions are not a substitute for seeking medical advice or care from your own doctor. That’s how you’ll get care that’s most appropriate for you.

Andrew Schorr:

So where are we with that in the MPNs, and what do you do at Moffitt, as far as testing people to understand their disease a little more carefully?

Dr. Komrokji:     

Right. So, I think we are starting to more integrate those. Obviously, there are several ways where we could look at the somatic mutations. So, obviously we know that in large number of patients we can detect somatic mis-happenings or mutations. And those mutations are divided into different types, what we call driver mutations that explain the clinical phenotype…

Andrew Schorr:

JAK2V617F is one of them.

Dr. Komrokji:     

JAK2V617F is one example. Calreticulin mutation, MPL mutation but there are other mutations in different machineries of the gene that also do happen. They could be actually the founder mutations for this disease. So one is obviously the diagnostic utility, which now I think in MPN is part of the diagnostic utility. So we rely on presence of the JAK2 mutation as one of the diagnostic criteria, calreticulin, all that stuff. So one is diagnostic.

The second one is obviously prognostic. So in addition to the clinical models that Ruben was mentioning, there are models now that are based on the molecular mutations. There are a few mutations that come out from several groups suggesting that they have poor prognostic value. Mutation called ASXL1, SRSF2. So that’s the second point, we use those mutations prognostic. 

The third one, that is probably still more evolving, is how can we use those to tailor therapy accordingly? 

Andrew Schorr:

Right.

Dr. Komrokji:     

One would be if we estimate the patient risk to be higher by this mutation, do we consider more taking those patients to transplant? We have to demonstrate that transplant will overcome the poor prognostic value of those mutations. That, we don’t know how to present yet.

Then second is, for example, are certain drugs better to be used in patients that have high-risk mutations? It seems, for example, even ruxolitinib, patients felt okay even when they had the high-risk mutations, that it didn’t seem that there was a huge difference in the response—maybe shorter duration.

There are some data suggest there are certain mutations which suggest less response to interferon, for example. But that, I think, is a work in progress. I’m not sure that it’s ready to be used in clinic, that I will not tailor the therapy accordingly today based on that, but it’s something I keep in my mind.

In terms of testing, we do actually test every patient that comes through the door, partly because of the diagnostic and the prognostic value, and partly also down the road I think the interesting thing would be that we could have clinical trials based on some of those mutations, targeted clinical trials. Again, this is more probably happening in AML and MDS at this point, but we have those IDH2 inhibitors, we have certain medications that would be for certain population.

So, that’s where I see the testing—diagnostic, prognostic, and hopefully potentially as a therapeutic target down the road.  

Andrew Schorr:

So, just to be clear, you’ve been using this term “somatic genes”—so these are not ones you are born with, whether your hair is dark, or your skin color, your eye color—but these are cancer genes, where cells go awry, right?

Dr. Heaney:         

That’s right. So these mutations are just in the cells that define the MPN, and not in the other cells in the body. 

Andrew Schorr:

Okay. And so people ask each of you, every day when you’re in clinic, how did I get this? Do we have any clue? Do we know?

Dr. Heaney:         

I think we’re getting closer. There are a number of genetic abnormalities, inherited abnormalities that predispose to MPNs and a couple of them were presented at the meeting this year. For most patients, we don’t. but we know that these are diseases that they’re not born with. They acquire over their lives.

And we live in a world that’s not pristine. And we all come in contact with certain mutagens, and it’s sort of like being in the wrong place at the wrong time and being I think some people being more susceptible to that.

Please remember the opinions expressed on Patient Power are not necessarily the views of our sponsors, contributors, partners or Patient Power. Our discussions are not a substitute for seeking medical advice or care from your own doctor. That’s how you’ll get care that’s most appropriate for you.

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Page last updated on February 28, 2018