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What Are MPNs? Diagnosis and Prognosis

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Published on May 26, 2020

Key Takeaways

  • There are three types of MPNs: myelofibrosis (MF), or the overproduction of scar tissue in the bone marrow; polycythemia vera (PV), where you make too many red blood cells; and essential thrombocythemia (ET), where you make too many platelets.
  • Upon diagnosis, every patient should have a complete blood count, a complete metabolic panel, lactate dehydrogenase, molecular testing for the JAK2 mutation, an oncogene test and, if experiencing symptoms, a bone marrow biopsy.
  • Doctors don’t have the power or knowledge to predict your individual outcome, but many MPN patients are living well and long thanks to medical advances and prognostic models.

What’s wrong with my blood? How did I get cancer? Can I still live a long life? Will I pass this down to my children? These are questions myeloproliferative neoplasm (MPN) patients often ask when first diagnosed.

In this segment from our recent town meeting, a panel of experts including Dr. Catriona Jamieson and Nurse Practitioner Becky McAlpin from UC San Diego Health Moores Cancer Center, and Dr. Bart Scott from Seattle Cancer Care Alliance, answer these questions. They also discuss the different types of MPNs, how they are diagnosed, what tests should be performed and why they are hopeful for the future.

This program is sponsored by Bristol Myers Squibb. This organization has no editorial control. It is produced by Patient Power in partnership with Bag It, MPN Advocacy and International and MPN Research Foundation. Patient Power is solely responsible for program content. ​

[Due to extreme load on our website and Zoom platform, viewers may experience a time delay between the audio and video of the interview - please note the transcript can be read below.]

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Transcript | What Are MPNs? Diagnosis and Prognosis

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:
We’re living with MPNs, so, Dr. Scott, I want to go to you just so we have a baseline for everybody. Could you just define these for us real quickly like you do with new patients? What have I got? What's going on in my blood?

What are Myeloproliferative Neoplasms?

Dr. Scott:
Right. Well, essentially the model of myeloproliferative neoplasms are cancer of the bone marrow, characterized by making too much of a particular type of cell. And there are different subsets of myeloproliferative neoplasms.

From the standpoint of patient care and how we diagnose patients, one of the biggest branch points for myeloproliferative neoplasms are whether patients have what's called the BCR-ABL oncogene. And so there is a subset of myeloproliferative neoplasms that are BCR-ABL positive. And those patients would fit into a category that we call chronic myeloid leukemia, or CML. And there's a specific type of drugs developed for those patients called TKIs, which can be very effective.

And then as another subset, we have the BCR-ABL negative myeloproliferative neoplasms. And the major ones that fall under that heading would be polycythemia vera, and that's where you make too many red blood cells. Another major one would be essential thrombocytosis, or thrombocytopenia and that's where you make too many platelets.

And then the third one would be myelofibrosis, and that would be basically overproduction of scar tissue within the bone marrow itself. Patients can have myelofibrosis either as what we call primary, so they have no inter-antecedent hematologic history whatsoever, and they present with just the myelofibrosis. So those types of symptoms would be things like weight loss, night sweats, fevers from the big spleen, or sometimes they can have a high white blood cell count or low platelets or low red cells, or they can be completely asymptomatic. And the physician notices that there are some abnormalities in the blood count.

Dr. Scott:
And then just to complete this picture, it's important to note that there are some patients that are originally diagnosed with either PV, that's polycythemia vera, or ET, which is essential thrombocytosis, who then years later can develop myelofibrosis secondary to PV, or ET. And we call that post-PVMF, or post-ETMF, and those patients would have secondary myelofibrosis. So that would be kind of the general breakdown of myeloproliferative neoplasms.

What Tests Do MPN Patients Need?

Andrew Schorr:
So, Dr. Jamieson, when somebody is seen by you, what are the tests you're going to want to do to get a picture of what's going on for them? Is it just a blood test?  Is it a bone marrow biopsy? Is it some genomic test? Do you get a picture before you can say, "Here's what we're dealing with, and here's my recommendation on what we can do?"

Dr. Jamieson:
A lot of this has to do with history and physical exam and eliciting the symptoms that  kind of give you the idea about whether this is ET or PV, or has evolved to myelofibrosis, which is more associated with fever, chills, night sweats, a left upper quadrant pain, because your spleen is getting bigger and feeling full early. So we do this thorough history and physical exam, as you know with my fancy tape measure.

But Dr. Scott and I and others are on the National Comprehensive Cancer Network panel for myeloproliferative neoplasms that we started a few years ago to really decide what kind of workup should be uniform for everyone, so we're not all just doing our favorite tests. Everybody should have a complete blood count, a complete metabolic panel, lactate dehydrogenase, have the molecular testing for the JAK two mutation by PCR, which is a very sensitive test and if negative, the calreticulin mutation.

So those are tests that we use as commonplace. Everybody should have this oncogene that Dr. Scott was alluding to, which is BCR-ABL ruled out. And that's a very easy blood test. And if people are symptomatic, generally we, as you know, do proceed to having a bone marrow biopsy with an aspirate.

And there was some sort of debate in the field initially about whether we should get a biopsy, which is a teeny tiny piece of bone. But that's how we look at scarring in the bone marrow. And as you know, myelofibrosis means myelo for bone marrow, fibrosis for scarring. It's really hard to make a diagnosis of myelofibrosis without that little piece. So that's turned out to be very important and is actually now part of the prognostic scoring system, where we take into account not only the greater fibrosis, but the mutation status and what other mutations somebody may have.

And then the question is, “How often should we be following the mutation status?” “How quickly do people's mutations change?” And I think the most common question I get is, “How did I get this? Did I inherit this from a family member? Can I pass it onto my kids?” And, “Did I do anything to get this?” And the answer to all three is: we don't know yet.

This is going to involve some pretty intensive research, but with the MPN Research Foundation, MPN advocacy group, The Leukemia &  Lymphoma Society, and the NIH, and the National Cancer Institute, we're getting funded to really try and ask those questions and answer them, but really as a team with the patients leading the charge.

So that's been, I think the most gratifying thing about working in this field. And I guess, Andrew, the most important point I would like to make is there's a difference between diagnosis and prognosis. And people often get those two mixed up. You do need to have a bone marrow biopsy as part of the diagnostic workup and look at reticulin, and trichrome staining of the bone marrow. Because reticulin or trichrome staining are two different tests and you can be positive for either and have myelofibrosis. And then making a distinction as Dr. Scott was making between post-ET and post-PV myelofibrosis versus primary myelofibrosis, and how we start treatment.

What's the Prognosis for MPNs?

Andrew Schorr:
Okay. Dr. Scott. So Dr. Jamieson just mentioned the word prognosis. And she was talking about the questions patients ask you, but I know that patients over the years have asked you certainly about a variety of leukemias. Let's just talk about MPNs. Somebody who's never heard of it, the diagnosis and whether the family member of the patient says, "Doc, how long do I have? Is this a fatal condition?" Now we have Ruth, who we're going to be—who's been living 25 years with MPN. I've had primary myelofibrosis for 11, and I have to say living pretty well. So today with all this testing and the treatments we're going to talk about, what do you tell people about longevity?

Dr. Scott:
Right. The first thing I have is a discussion with them and I say, look, I don't have the power or the knowledge to predict your individual outcome. And I think that's an important thing to know. Whenever we provide prognostic information, it's based off what has happened to other people in the past. So there's no way that I can say to an individual exactly what their future will be. And also think it's important to acknowledge that we are all, who are in this business working to improve outcomes. Dr. Jamieson has done a lot of fantastic work to make this disease better. And I'll say, just along the way, we don't do a good enough job of thanking our colleagues, but you should know, and everybody on this broadcast should know that if it wasn't for Dr. Jamieson, we would not have this drug, fedratinib (Inrebic), available to prescribe to our patients. So she deserves a lot of thanks for that. But that just highlights how what we think we know now is not what we will know in the future, because we do have these new medications like fedratinib available to us to treat patients.

So I began with that and then after that I discussed our current prognostic models, and they are very helpful for prognosis. And so for myelofibrosis, what I currently use is called the MIPSS70+, and it does take into account underlying mutational abnormalities that Dr. Jamieson was mentioning, something that we call next generation sequencing. But we would look at certain types of mutations that could potentially increase the risk of progression in myelofibrosis to have more advanced bone marrow failure state or leukemia.

We generally do not perform transplantation for patients with ET or PV, because they typically have a
better prognosis than patients with myelofibrosis. So in regard to looking at the role of transplant, the prognostic model, the MIPSS70 is particularly useful for patients with myelofibrosis.

Andrew Schorr:
Okay.

Dr. Scott:
But I would just say try to be hopeful that what we think now and what we know now is likely not true in the future, and when you look at certain epidemiologic studies that have been done over time, it is true that no matter what subset of MPN you have, the overall outcomes have improved by decades. So we are getting better overall in treating these diseases.

Can I Have Good Quality of Life with an MPN?

Andrew Schorr:
Amen. Becky, so people will ask you, maybe they met with Dr. Jamieson as a treatment plan, but people are still worried. And the family member’s saying, "How long is Andrew going to be around?" Or whatever, and will the quality of life—can the quality of life be good? And I know some of the—Dr. Mesa and others have worked on quality of life assessments. So, Becky, what do you tell people about not just living, but living well?

Becky McAlpin:
If it's time for them to go on a medication, if we're not doing active observation, clinical trials are the way to go. When we looked at the JAK2 inhibitor that—we looked at JAK2 that was found in 2005, the first JAK2 inhibitor came out in I think 2011. So didn't spend a lot of time on the bench. There are people very, very active trying to find cures for these diseases. So we just need to be in close contact. There is never a question that is too small, and if they don't understand what we say they need to keep asking until they do.

Andrew Schorr:
Right. But do you feel people can live well? You see lots of patients. Can people live well?

Becky McAlpin:
They can live very well.  And I do think it's important for these patients to stay as active as they can. They should try to continue to work, maybe work out something with their employer so that they're aware that they may need some time off occasionally or maybe have days where they can work from home. Exercise-wise, we like them to continue to exercise. The caveat to that is that ET patients who either have really high platelet counts or really low.  We would not want them to have any contact sports. We would want them to really pay attention to their platelet count. If it goes too low, there are complications they could have. So communication, communication.

Diet-wise, be real careful of sugars. Mediterranean diet is often used, good protein and then just a very balanced diet. I think Dr. Jamieson probably giggles at me a lot because I push water, water, water. That makes everybody feel better and a lot of times, most of the time I'm finding people aren't drinking enough water.

I always tell them to drink heavier in the morning than at night so you sleep better. But it really has made a huge difference.  I think early on when I started this, we even got a patient on a clinical trial because he started drinking more waters and his counts improved.

Andrew Schorr:
Thank you so much Becky, Dr. Scott, Dr. Jamieson. Clearly, MPN patients like me have a lot to look forward to, both related to diagnosis and prognosis. For Patient Power, I’m Andrew Schorr, remember knowledge can be the best medicine of all.

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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