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Myeloproliferative Neoplasms in Children and Young Adults

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Published on December 16, 2020

What We Know About Pediatric MPNs

While adults comprise the majority of myeloproliferative neoplasm (MPN) patients, children, teenagers and young adults can be affected as well. Research and treatment for pediatric MPNs are expanding. Find out what we know and hope to discover about MPNs in children and adolescents with Patient Power co-founder and patient advocate host Esther Schorr, patient advocate Portia Pliam, and Dr. Nicole Kucine, MD, who specializes in pediatric MPNs as Assistant Professor of Pediatrics at Weill Cornell Medicine.

This Answers Now: Facing MPNs segment covers topics including how to diagnose MPNs in children and young adults, what treatment options are available, the unique challenges of this rare pediatric condition, and what the future looks like for children and adolescents with MPNs.

This program is sponsored by Incyte and is produced in partnership with the MPNRF. This organization has no editorial control. It is produced by Patient Power. Patient Power is solely responsible for program content.

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Transcript | Myeloproliferative Neoplasms in Children and Young Adults

Esther Schorr: I'm Esther Schorr with Patient Power, and I'm coming to you from Carlsbad, California today, and I'm your host for this segment of Answers Now: Facing MPNs. We're talking about something even more rare than MPNs themselves, and that's MPNs in children, in teens, and in young adults. Joining us today is a pediatrician, and an MPN specialist, Dr. Nicole Kucine. She is an Assistant Professor of Pediatrics at Weill Cornell Medicine in New York.

And we also have another special guest today, who brings a different perspective to the conversation, and that's Portia Pliam. Most people in the MPN community hear that children can get MPNs, and they're surprised. I mean, how many kids and young adults are really affected by MPNs?

What is the Likelihood of an MPN Diagnosis for Children and Young Adults?

Dr. Kucine: It's so, so rare Esther, and I don't think we have a great handle on the true incidence, but I sort of use, as an example for maybe every hundred adults diagnosed with an MPN, there's probably two children. So, it's taking a rare disease, and making it so much rarer, which is part of the challenge.

Esther Schorr: Is this a field that's growing in pediatrics because more young people are being identified as having an MPN? Or is the interest increasing because there may be young people who actually have an MPN kind of brewing, and that, maybe well before symptoms show up, and the diagnostics happen? Can you sort that out a little?

Dr. Kucine: Routine blood count screenings are very common and pediatric practice now, so I think we're probably identifying more patients, and we'll probably be seeing more of these diseases as we pick up more kids with this routine blood screening. So there are some patients who present with symptoms, but there are a lot of perfectly healthy kids who are incidentally picked up on routine blood tests.

Esther Schorr: Okay. So, Portia, you were diagnosed when you were seven?

Portia Pliam: I had a nosebleed that lasted roughly 45 minutes when I was in second grade, third grade. And I was at school at the time, and I went to the nurse's office, and they just couldn't stop it. And so finally, after 45 minutes, it started to slow down, and then because of that, I went into the doctor's office, and they did a routine blood test and found that I had way too many platelets, and that's sort of how it began.

Esther Schorr: Okay, so, I know that there's a range of MPNs, there's ET, and PV, and then there's myelofibrosis. So, are one of those, or some of them more common in children and teens? And does that change as you get older?

What Is the Most Common MPN Diagnosed in Young Patients?

Dr. Kucine: So, ET seems to be the most commonly identified MPN in kids, followed by PV, and then MF is much rarer in young patients. So we really don't see a ton of myelofibrosis. And myelofibrosis in kids can sometimes be a completely different entity than a classical MPN, and present very, very young. So, MPN style MF is quite rare, and then there's also other forms of fibrosis that are rare in children.

It's much less common that an adult will present completely asymptomatically, and just be incidentally picked up. That is something that happens much more commonly in children, as opposed to adults. There was a study last year, that showed that as many as 50% of patients in the literature who were children and teens with MPNs were asymptomatic at presentation.

Esther Schorr: I know some parents will ask, are these kinds of things, especially the MPNs, could they be hereditary?

Are Myeloproliferative Neoplasms Hereditary?

Dr. Kucine: So it's a great question, and I do talk about that with families a lot. So, for the most part, MPNs are sporadic diseases. So, if I meet a child with an MPN, I don't encourage the parents to test all the siblings, I don't encourage them to go get testing themselves if they're completely well. They're less commonly familial disorders. But that can happen, and there are some families where they are predisposed to getting MPNs. So, I do occasionally meet a kid who has a family member with an MPN, and that's a bit of a different story.

Esther Schorr: Portia, can you talk a little bit about what your treatment path has been like?

Individual Treatment Paths & Treatment Options for Pediatric MPNs

Portia Pliam: So since seven, up until a few months ago, I was strictly on Hydrea (hydroxyurea), and that has been working great. I haven't had too many symptoms from that. The dose changes every now and then if I have too many platelets if I'm going down. But then recently with, I think starting end of June, early July, I recently started Interferon. I'm currently in transition between Hydrea and Interferon, so I'm currently on both, and hopefully, I will be off of Hydrea relatively soon. But, it doesn't look like that's happening soon.

Esther Schorr: What are sort of the range of treatment options that are available, especially with young people diagnosed with an MPN? Is it more than what we've heard from Portia?

Dr. Kucine: So, not much. One of the challenges with treating young patients is that most clinical trials are not open to children. So, the sort of more classical medications hydroxyurea, and interferon are both available to young patients. There are cases of children using, and mostly teenagers, but some younger children using ruxolitinib (Jakafi). But, the majority of the newer agents being tested have not yet been tried in children, and are being studied in adults first. So, that is sort of one of the natures of pediatric medicine, is we often have a lot fewer medications to work with earlier on, than adult medicine.

Esther Schorr: Is it safe to say that there are some other things you have to think about with pediatric patients, like future fertility issues, quality of life? What are some of the things that you think about with that?

What Are the Unique Challenges of Pediatric MPNs?

Dr. Kucine: Yeah, absolutely. I think when we're talking about, certainly a child, or a teenager, I think there are some challenges such as, little kids can always take oral medication. So, if a medication is in a liquid form, or a pill form - hydroxyurea pills can be quite large. So, not always great for a younger child. We have to be able to get suspensions for some children who need hydroxyurea for various reasons.

I think some patients prefer injections to pills daily. Some patients would rather never get an injection, and would much rather take pills. So, I think patient preference plays a role. And I think, especially for a young patient, a lot of times they feel like there's not much they can control. So certainly, if there's options for them for medication, and there's something they prefer, I think it's really nice to be able to give them some options with their families to discuss.

I think the fertility issue is a really important question, especially for young adult patients. And there's probably a difference between being on a medication for a very long time, versus starting it when you're much older. I think with the medication landscape changing so much, that there's probably not going to be a lot of people now started on medications that they'll take for 20 or 30 years, potentially. There'll be a lot of options for them to change if they need to.

But certainly, any medication that could have potential fertility effects, like hydroxyurea, is something that a young patient does need to think about. And while there are many, many patients who have taken hydroxyurea, and then been able to parent children, it is a consideration when choosing a medication for sure.

Esther Schorr: So, I know we get a lot of questions about the role of stem cell transplants related to MPNs. Can you talk a little bit about where that fits, and when it fits? And then there are a couple of follow up questions that people have asked specifically about that.

What is the Role of Stem Cell Transplants in Pediatric MPNs?

Dr. Kucine: A stem cell transplant is an intense thing, and if it goes well, it is a wonderful curative therapy. If it doesn't go well, it can be extremely devastating. So, I think in pediatrics, we tend to reserve transplant for a more serious case.

I will say that if someone has a sibling who is a potential HLA match for them, which is how people identify donors for transplant, who, let's say you have a patient who has a JAK2 mutation, and their sibling does not, I think certainly if a family wants to speak to a transplanter and get a consultation to hear what are the risks and benefits, absolutely reasonable to do at any time. But, we tend not to recommend transplants for very young patients with MPN, especially if they have ET, and are fairly asymptomatic, or doing well on phlebotomy with PV, just because the potential risks of transplant might be high. Certainly, if we're seeing that a child is quite ill, or is having progression of their MPN, I think transplant is absolutely something to consider. But I think up front, it's not usually something I recommend for patients.

Esther Schorr: You mentioned that there are pretty powerful drugs that are standard of care in adults. So, what do you worry most about in treating kids?

Is There a Different Standard of Care for Young MPN Patients?

Dr. Kucine: I think there's so many questions with young patients with MPNs. I think, since you mentioned medications, one of the biggest questions is when to start someone on a treatment? As someone mentioned, their child's had an MPN for nine years and is not on any therapy. A lot of kids do need therapy, and really, what is the right time to start therapy?

And I think there's not a clear-cut answer for that. There's a number of guidelines out there for management of adult patients, which is great, but I don't know that those apply to five- and 10-year old’s. So, really identifying, what is the right time to start a young patient on a cytoreductive type of medication? And we don't know.

Is it when something bad happens, once you've had a blood clot? Is it if there's a magical platelet number? Nobody has a real platelet cutoff. I know plenty of patients with platelet counts in the 2 million who, unlike Portia, don't have bleeding problems, and have not had blood clots. So, do they really need medication if they're active and otherwise healthy, and not having to restrict their day to day things?

So, I think knowing when to start is really a question we need to study over time, so we don't overuse medication in young people, but that we also don't undertreat patients who could benefit from it. And then I think, what medications are right for kids? Again, I said, there's really only a couple that we have available to us to use in children. I think as time goes on, hopefully, that will change, so that we can see if there are kids who need treatment, we have more options for them, and we can really tailor them better to their disease.

I think it's probably extremely challenging, and I'm sure Portia can talk about this, for kids and families, as you said, "What do you say to someone?" If your doctor can really not give you a ton of information, how are you expected to explain it to someone else? So I think, trying to help teenagers especially not feel so isolated when they get a diagnosis of a rare disease like this, because they're going to be the only one in their school, and they may be the only one in their town or city, and it's hard. A lot of times, I think some of the best things we can do is connect families together so that teens can talk with each other, and parents can talk with each other, just to know there's someone else out there. So I think that is sometimes a challenge since most of the patient support groups are really for adult patients.

Esther Schorr: I have another question from an audience member, from Joanna, who is 16, and was diagnosed with ET two years ago. Anything that she should be doing differently as far as diet, exercise, those kinds of things, that she should be doing to try to stay healthy?

Do You Have Any Advice on Wellness for Young People with MPNs?

Dr. Kucine: I think if you're feeling well, I think a general rule I like to go by is, do things that could in theory minimize blood clot risk. So those are to be active. I'm not suggesting you become a competitive athlete like Portia. She's sportier than the average, and that's fine. But I think doing exercise, maintaining a healthy weight, trying to have a more active lifestyle, which is especially hard, given travel, and quarantine restrictions and things. But I think moving as much as you can to maintain that healthy level of activity is really important.

And I think basic things like, be careful on a long flight, avoid dehydration, drink enough water, those are just regular things that are important. Don't smoke, because smoking is hugely prothrombotic. So, healthy practices like that, I think are really important for just decreasing clotting risk in general. And I think having your follow-ups with your doctor, to make sure they're keeping an eye on your blood work, keeping an eye out for things like acquired Von Willebrand disease, which might cause bleeding, and staying on top of things before they happen.

So again, there's ways to try to monitor for progression, and avoid bad things happening to some degree if you're thoughtful, and cautious, but there's no data for young people yet on data, or on diet, or real exercise plans. There's a lot of good research being done in adult patients looking at things like yoga, and dietary changes that might be helpful someday, but we don't know yet for kids. But I think, just being a generally healthier person is probably good for decreasing blood clotting risk in general.

Esther Schorr: I want to talk a little bit about what it's like to live with an MPN, and a little bit about research and where that's going. So, while I've got you, Dr. Kucine, what does the future look like for children with MPNs? Can you tell us about the research going on?

What Does the Future Look Like for Children with MPNs?

Dr. Kucine: There is research happening now, we're looking into a lot of different things. I think there's a bunch of different questions. There's the clinical questions that we talked about, as far as when to treat, what medicines to use, outcomes, things like that. And then there's also questions around what's driving these diseases in kids.

Children have lower rates of being positive for JAK2, MPL, or CALR mutations than adults do. So, in those patients who are triple-negative, what are the genetic causes? So, we're looking into that to see if that can give us any insight into the driving of the disease, into potentially who might progress, who might have a more indolent course. So we're looking at those things. We're looking at different inflammatory markers, and protein levels to see, can this tell us why some patients get symptoms? Can this be another avenue for therapeutics? Maybe certain anti-inflammatory medications might be helpful down the road for symptoms.

So, most clinical trials, you have to be 18 or over to enroll on, and you have to meet a variety of criteria. So most young children and teen patients are not going to be eligible for those. However, clinical research is how we learn information. That's how we collect patient samples. That's how we follow people over time, to see what different symptoms and outcomes people have. So, that is absolutely available to people.

So, we have a research program that we have open at Cornell. We enroll patients here, we enroll patients in California, at UCSF, we also collaborate with people at Johns Hopkins on some research programs. So there are places in the country where people can enroll on clinical research studies, that aren't necessarily medication trials. We call those observational studies, where we learn about the diseases with the help of the patients.

Esther Schorr: I hear rumor that you want to be a very active patient advocate, to help others that are diagnosed with an MPN early in their life. And can you tell us a little bit about what you're doing, and what you want to do?

Portia Pliam: I would say recently, within the last few years, I've definitely tried to do a lot more research on my own about MPNs in general, and then try and find communities. I think, partly because I was diagnosed so young, I really did nothing for a good part, just because my parents did a lot of it, and I was busy with school and such.

But this year, I'm in a gap year from college. And so I'm actually interning with the MPN Advocacy, and I've been doing a lot of work with them, and just trying to look for other families, and kids who also have MPNs, and try and get them together, and have different discussions. I think it's just overall really interesting, because kind of like Dr. Kucine said, there's a lot more people than you think, even though you think you're the only one. It's obviously a very small community, but you're not alone. And I think, being able to share how you're feeling, and all that related, I think it's really helpful, besides just talking with your parents or your doctor, someone who understands what you're going through.


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