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Is There a Familial Connection in MPNs?

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Published on March 18, 2020

Key Takeaways

  • To participate in Dr. Fleischman’s study, go to WeAreMPN.org and click, “Why does MPN run in families?”
  • Researchers like Dr. Fleischman are working to learn if there’s a predisposition syndrome that makes your particular genetics more fragile or more likely to mutate over time. This could help us understand why MPNs run in certain families genetically.
  • The number one predisposition to myelofibrosis is age.

Myeloproliferative neoplasm expert Dr. Angela Fleischman, from UC Irvine Health, shares her research on the hereditary connection in MPNs and how patients and families can easily get involved in that study. 

Dr. Laura Michaelis, from the Medical College of Wisconsin, also addresses the risks for children of patients to be diagnosed with an MPN. Watch to learn more about genetic predispositions in MPNs.  

This program is sponsored by Incyte. 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 | Is There a Familial Connection in MPNs?

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:           

Hello and welcome to Patient Power on location in Orlando, Florida. I’m Andrew Schorr. Why are we in Orlando? Because this is where each year there is a big medical convention. Not always in Orlando; it moves around but this year here more than 25,000 blood experts from around the world come, including blood cancer experts and that means part of the discussion is about MPNs. I’ve been living with myelofibrosis for about eight years. You’re affected by it or a loved one. Let’s get the news.

So, starting across the way here we have our first expert Dr. Angela Fleischman from UC Irvine. Angela, thanks for being with us.

Dr. Fleischman:           

Thank you for having me.  

Andrew Schorr:           

Thank you. In the center is Dr. Brady Stein from Northwestern. And, Brady, thank you for being with us. And then on the right is Laura Michaelis from the Medical College of Wisconsin, Milwaukee. 

Dr. Michaelis:              

Thank you so much, Andrew. It’s a pleasure to be here. 

Andrew Schorr:           

There are some people I talked to who either have someone else in the family who’s had either another blood-related condition or maybe an MPN. You’re studying that, right?

Dr. Fleischman:           

Yes. So, thank you for asking. So, I’ve always been fascinated by why MPNs run in families. That’s just been something that has really enticed me to study MPNs. What’s really interesting to me is that although people with MPN were not born with the JAK2 mutation they acquired it during their lifetime. There are families where multiple people within the same family have all acquired the same mutation. So, I want to know what is different about these families that is so selective for growth of JAK2 mutant or calreticulin or MPL mutant cells in these families’ bodies, that may not be present in other people’s bodies.

And we’ve previously focused on inflammation thinking that maybe families who have MPNs have a little bit of a different immune system. Maybe they have a little bit of an overactive immune system, and, interestingly, MPN patients as well as their family members also have an increased risk of autoimmune diseases. So, that goes along with high inflammation.

Andrew Schorr:           

Lupus, MS, rheumatoid arthritis, things like that. Can we send you saliva samples? What can we do?

Dr. Fleischman:           

So, if you’re interested, you can go to our website, WeAreMPN.org, and on the top there’s sort of a bar that says, “Why does MPN run in families?” You can click down, and then we have an online consent form, and then we’d like to have people also fill out a survey about their personal health and their family history, and then we send you a kit to collect blood. If you can’t get blood, then we’re determining whether saliva is an acceptable alternative, because that contains mostly white blood cells. And then, we also want fingernails. So, we want blood versus fingernails, meaning that blood is what mutations you acquired over your lifetime in your blood, and the fingernails have the DNA that you were born with.

And we would like MPN patients and their family members. So, it doesn’t matter where you live; ideally within the United States so it’s ease of mailing. But MPN patients and family members… 

Andrew Schorr:           

…what’s the website again?

Dr. Fleischman:           

So, www.WeAreMPN.org

Andrew Schorr:           

Okay. Now, I want to ask you your reaction that people come to you and they’re newly diagnosed, and they say, “Should I worry about my kids?” So, do you want to comment?

Dr. Michaelis:              

This is an incredibly common thing that people ask me, and first off I think that we are looking more and more about predispositions to disease, and that is in myeloproliferative  neoplasm, that’s in acute leukemias. We’ve known for a long time that there are probably predispositions to chronic lymphocytic leukemia, for example.

Andrew Schorr:           

I have it.

Dr. Michaelis:              

Most of the people who develop these don’t develop them because of a cluster of family things, and we know that because, for example, the median age for myelofibrosis is quite late in life. And the number one predisposition to myelofibrosis is age and just the time that your stem cells have been on the planet and the time that they’ve had to degrade and have less fidelity every time that they reproduce, right?

That being said, understanding predisposition syndrome is going to make a big difference in the handful of clusters of families where things are running in families. And we can learn a little bit more about whether or not there’s a syndrome that makes your particular genetics at that particular part of your DNA more fragile or more likely to mutate over the course of time. 

Andrew Schorr:           

So, we worry about our kids though. So, if my 30-year-old says, “Dad, am I at high risk for this?” 

Dr. Michaelis:              

Yeah. So, first off, unfortunately there’s nothing we can do about it at this time anyway. In my life, like I’m one of those people who if I don’t have something to do about it, I don’t want to know about it anyway. So, when people ask me, “Should I go out and do the MPN thing or 23andMe?” I’m like, “Well, it’s not something I would do.” Nevertheless, so there’s no medical reason to intervene in somebody who’s asymptomatic and who’s counseled well and who’s otherwise healthy, and we all could be hit by a meteor that falls from the sky at any time, so you know, worry about what you can.

That being said, the work that Angela and others are doing about understanding how diseases cluster in certain groups or what predisposes families to do this will teach us a lot more and maybe understand when and if we should intervene, or are there things you should avoid if you have this predisposition syndrome. And that’s where we need to go in the future. 

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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