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Hereditary Trends in MPNs

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Published on July 21, 2020

Are MPNs Hereditary?

A common question surrounding MPNs is, "What is my risk for getting an MPN if a family member has one?" The answers is, that a first degree family member of an MPN patient (child, sibling or parent) are five times more likely to develop an MPN than a person with no familial history of MPN.
 
Dr. Angela Fleishman, Assistant Professor, Department of Medicine, Division of Hematology/Oncology; UC Irvine Health and Patient Power co-founder and MPN care partner, Esther Schorr discuss the familial predisposition to acquire MPN and a new study that is researching these patterns. For more information on this ongoing study, please visit www.wearempn.org or www.mpnlabs.org
 
This is the final part of a 2 part series, watch Part 1 Diet For MPNs: A Nutritional Study.

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Transcript | Hereditary Trends 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.

Esther Schorr:

Hi there, this is Esther Schorr from Patient Power and I'm here today with Dr. Angela Fleischman. Angela is from the Department of Medicine, the Division of Hematology/Oncology at UC Irvine Health. So, Dr. Fleischman, I understand that you have been studying familial connections in families where MPNs may be clustered, I think that's the layman's term for it, but can you talk a little bit about what that study is and how it's relevant to MPN patients?

Dr. Fleischman:

Okay. Yes. So, very interesting to me is that there is a familial predisposition to acquire MPN. And it's a very different scenario than when we think of a specific mutation being passed down to your children. In MPN what makes it really amazing is that, there can be multiple people within the same family who have all during their lifetime, acquired a blood cell with the exact same mutation.

This is just fascinating to me, and we really don't know why certain families are predisposed to acquire MPN. Some families will have multiple family members with MPN. There's a lot of research going on trying to figure out what the genetic components that make somebody more likely to acquire an MPN. And think some things have been identified, but we really don't have a definitive answer yet. And to try to get at this with my lab work, we're trying to take a little bit of a different approach then that's been done because there's no reason to just repeat things that have been done. What we would like to do is, take family members, both people with MPN and people without MPN, from families, with it, two MPN patients in them and determine whether the mutations that they have in their blood have similarities to each other.

So we know that although most all MPN patients have what we call their MPN driver mutation, which in most people's JAK2, it could be calreticulin, but we do know that they have other mutations in their blood. And we'd like to know whether the other mutations in their blood that they have are similar among these families, both among the affected as well as possibly the unaffected family members in their families. So we're trying to acquire samples from families. And if you belong to an MPN family, either a MPN person or an uninfected family member, I'd invite you to participate. You can look on our website and this can be done all online. We send a kit for saliva or blood as well as fingernails.

Esther Schorr:

And what website is that, they should go to.

Dr. Fleischman:

So patients or anybody can go to www.wearempn.org, that's one of my websites, as well as my lab website, www.mpnlab.org, or if a person would like, they can also email me directly and I can give them the information.

Esther Schorr:

Okay. So, very interesting. I'm just curious, are you at a point yet in this research where you can tell how common this familial clustering is, if you look at the whole global population of MPN patients, is this a rare occurrence or do you know yet?

Dr. Fleischman:

Well, it's well known that there's a very strong familial predisposition to acquire an MPN if... First degree relatives of MPN patients have about a fivefold increased risk of having an MPN. Don't quote me on these numbers, but it's at least 10% of MPN patients will have a first degree relative or a relative with an MPN. So, so the familial predisposition is, is well known.

Esther Schorr:

So, is that a reason for MPN patients to have their first degree relatives, which I assume are children, or would it be first degree relatives…

Dr. Fleischman:

Siblings or parents, yeah.

Esther Schorr:

Sibling or parents, to be watched more closely over time?

Dr. Fleischman:

So the current recommendations are not to be screened just because if one has a first degree relative who has an MPN. However, my suggestions are usually, if there's a blood clot or if there's some abnormal blood counts, then there should be a lower threshold for testing for MPN, if there's a first degree relative with MPN. But not necessarily just out of the blue testing, just because. Interestingly, there's about one in a thousand normal controls, if you test for it, will have presence of JAK2.

Esther Schorr:

Yeah. It's a particular interest to me because my husband is an MPN patient. We have three grown children. So I guess it's good to know, but it doesn't sound like there's an action item for us at the moment.

Dr. Fleischman:

Correct.

Esther Schorr:

Unless one of them were to exhibit some kinds of symptoms of something that might be blood related or MPN related.

Dr. Fleischman:

Correct. Yes, exactly.

Esther Schorr:

Okay. Very good. Thank you. Well, it's exciting research that you're doing. It'll be very interesting to hear the outcomes. You know, knowledge is power, as we say, so really appreciate you sharing all of your updates with us. And we hope that we can continue this dialogue because I know it's very helpful to patients and their families dealing with the various myeloproliferative disorders. This is Esther Schorr with Patient Power. And as we just said, knowledge can be the very 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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