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MPN Disease Evolution: A Patient-Physician Approach to Treatment

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Published on April 18, 2019

If a person’s myeloproliferative neoplasm (MPN) is stable, why do some consider a treatment intervention like transplant? In this highlight from our MPN Partners program, leading MPN expert Dr. Srdan Verstovsek, from The University of Texas MD Anderson Cancer Center, and patient advocate Samantha Trahan provide insight into a teamwork approach to identifying important prognostic markers, monitoring progression and making treatment decisions. Dr. Verstovsek also touches on important aspects of disease evolution, genetic testing and how mutational status can influence the course of care. 

The Partners series is sponsored by Incyte Corporation. We thank them for their continued support.


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Transcript | MPN Disease Evolution: A Patient-Physician Approach to Treatment

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.

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, how have you been, first of all, how did the myelofibrosis show up? So you went from PV, what changed?

Samantha Trahan:       

So, I still feel great. So, it’s not that I had a sudden change in symptoms, but when I see Dr. Verstovsek every three to six months, and I have all of my—I have years’ worth of data. And what we saw was a slight trend downwards, in hemoglobin, hematocrit, number of red blood cells. And it was enough of a very slow but, once you put it all together, very obvious trend that Dr. Verstovsek suggested it was time to do another bone marrow biopsy and look to see if anything had changed. We did that in December, and then had the change-over to diagnosis when I met him in January.

Andrew Schorr:          

Okay, now, I understand that a transplant is on the table. Why that?

Samantha Trahan:       

Well, it’s interesting, even though I feel great, I am a well-informed patient, and while the bone marrow biopsy in itself was not too terrible, they also did a full genetic workup, and whereas I used to just be JAK2 positive, like most other, or almost all PV patients. The mutation panel actually brought back this year, I think, five different mutations. And some of those were on the very ugly side of the spectrum. 

You know, so many mutations are not so bad, and some of them really speak to an advanced, or a more aggressive disease state. And so, I have two of those, and after doing a bunch of research, and talking with the stem cell team, they think that now is the time to treat that aggressively, because with these mutation patterns, it’s only really just a matter of time before I would progress to something more aggressive like AML.

Andrew Schorr:          

Wow, and you have children?

Samantha Trahan:       

I do. I have one. He’s 17-and-a-half. He’s a senior this year, about to graduate high school.

Andrew Schorr:          

Okay, and so is there a current search going on for a donor?

Samantha Trahan:       

There is. Originally, they could not find a perfect, unrelated match, so someone out there on the registry that was perfect 10 for 10, and so we had my son typed, and he is a great haplo match[T(D1] , so we were looking down that avenue. And then just last week, they tell me that they found a 10 for 10 unrelated match, and so I went from having really, no options, surprisingly, because everyone thought that finding a match would be pretty easy, but went from having no options to now having two really good, viable options.

Andrew Schorr:          

Are you on pins and needles right now?

Samantha Trahan:       

The thought makes me want to throw up every time I think about it, but you know, what else do you know? You know, you’ve got to deal with what you got.

Andrew Schorr:          

Let’s skip over to your doctor, Dr. Verstovsek. So, Dr. Verstovsek, just a little bit about this sort of genomic testing now, so not all myelofibrosis is alike, is it? So what you might recommend to me, depending on what you saw in my biopsy, might be different for her. Tell us about the subsets now, in a decision to maybe use the big gun, a transplant. 

Dr. Verstovsek:           

Yeah, I’m sorry that the evolution of the disease has happened and that we are talking about such an intervention as aggressive as it is now [inaudible] for Samantha. But in her short summary, Samantha has touched upon quite a few important aspects of disease evolution. And just briefly, just first to say, that the change, and this was quite well elaborated at the beginning by Samantha, that the change from more benign conditions, and in her case, it waspolycythemia vera changing to myelofibrosis, takes time. Nothing happens right over night. 

So you can see, that’s what we always talk to the patients about. We cannot predict who is gonna change, and the risk of change to myelofibrosis is a small one, but it takes time. So what happens in her case is that she described, anemia developed. Then you look at LDH. LDH is the chemistry test that comes from the dead cells, the chemical. It goes up, and then you may see some of the molecules in the white blood cell types, and then you wonder what’s happening because the production of red blood cells is abnormal. The cells are dying much faster. LDH goes up, and then you see baby cells from the bone morrow and blood, and then you say it must be that fibrosis is developing. 

And then you do the bone marrow biopsy to document that change. And with the presence of abundance of fibers, plus these clinical findings, then you say, yes you are transforming, or you have already transformed. It’s not one test. It’s not only bone marrow biopsy that would show the fibers. It’s a combination of bone marrow findings, physical exam, chemistry test, and the blood test, all together needs to be taken into account to talk about progression. Then, once you talk about myelofibrosis, then you say, yes this is, you have to know if this is a more aggressive condition. 

It tends to change, and it changed already. The cells tend to change, and you try to explain why the change happened. And we can, and that is becoming standard practice in academic centers throughout the United States. Look beyond just the—in terms of genetics, look beyond the JAK2 mutation, or one of these, what you call driver mutations, that they usually will include the JAK2 mutation, calreticulin mutation, or MPL mutation. These are three mutations that almost everybody has one of the three. But we look for others, and to see whether this is the explanation why the disease has changed. 

We actually note, everybody has many other mutations, but in Samantha’s case, there were many others, and so that is plausible explanation why the disease became more aggressive. There might be other reasons in the bone marrow of the patients why things changed. We are focused on genetics because we can do the genetic testing. This can be done on blood, not necessarily on the bone marrow biopsy. We also look at the chromosomes, the ketogenes. That can be done also on blood, but it’s much better done on the bone marrow, because you do need a lot of baby cells. Chromosomes can be broken in a patient, and that can explain why things change. 

So that is a prognostic significance of some of the abnormalities in genes, and some of the abnormalities in chromosomes and ketogenes, and this is what Samantha was talking about. They would explain, perhaps, why things change, but they also provide prognostic significance for the outcome of the patients with myelofibrosis at this time. And so that has to be accounted for when we talk about what are we going to do about myelofibrosis. We can do the pills to control the spleen, or the symptoms or anemia, which are the three main problems with patients in myelofibrosis. 

There are others, but these are the three main: Anemia, progressive and symptomaticsplenomegaly, in general body—failure of the quality of life, like myelofibrosis symptoms. So, symptoms, spleen, and anemia. Or, you wanna say, “I don’t wanna deal with the disease. I wanna change my scope of therapy to eliminate disease, and that’s the only way is obviously the transplant.” And then, the decision needs to be made together, between the patient and the physician, when is the best timing, what are the expectations, and why would you go into that right now. 

And this is where we talk about Samantha’s situation. In her particular case, these genetic abnormalities have a powerful, unfortunate possible influence on the evolution of myelofibrosis is much faster rate. You see, usually for the transplant, we utilize characteristics of the patients. That would be if you are very anemic, you would have a very high red cell count, you have progressive [inaudible] in the spleen, quality of life, transfusion dependence. These are the prognostic factors to assess the aggressiveness of the disease. 

And you would say if your disease has a risk of shortening your life expectancy to less than five years, based on our prognostic factors, then you should go for the transplant. We now account for changes in genetics, on top of the clinical evaluation, and the chromosomes also. So, this complex way of looking at individuals by putting all this together: biology, and the clinical perspective, and then you say, “When is the time?” And I think Samantha made up her mind already that now is the time, although she’s not suffering a lot, and that’s good, from the myelofibrosis, because the biological part is so unfavorable, now I think it’s reasonable to consider transplant. 

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.