[ Inglés] What Do Mutations Indicate About Disease Behavior in MPNs?

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Topics include: Treatments and Understanding

During this Ask the Expert segment, Patient Power community member Michelle wants to know if genetic mutations can predict how aggressive a myeloproliferative neoplasm (MPN) will be or indicate a poor treatment response. Leading expert Dr. Joseph Scandura, from Weill Cornell Medicine, explains the significance of mutational status in MPNs and how it can influence treatment decisions. Watch now to learn more.

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Transcript

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:

Here’s a question that will help our friends with ET. This is from Michelle. She says—well actually now she has post-ET myelofibrosis. She says she has ASXL1 and TP53 gene mutations. Does the mere existence of these predict aggression and poor outcome? That’s what she worries about that those have been found. 

Dr. Scandura:              

Well, obviously every individual has their own history that they’re developing and so exactly what this means for you, for an individual, is different than what it would mean for a population of people with similar mutations. That’s really what we know in medicine. We look at people in a cross section and we say people who we can put into this bin tend to behave in that way, but within that bin, there are individuals who don’t act that way, the way that the others do. So, I would in myelofibrosis, in MDS, in polycythemia vera, P53 mutations are an area of some concern, as is ASXL1 mutations are also an area of some concern. 

In ET it’s less well established and so I think because, if this was just ET and you had those mutations, I think many people, myself included, would say well, maybe we don’t know perfectly, but it is an area of some concern. I’m gonna keep a closer eye on you. Now that it has already evolved into myelofibrosis, I would say this is probably more like myelofibrosis where we know that P53 mutations, TP53 mutations, and ASXL1 mutations, can sometimes be some of the harder ones for us to treat. It’s something that, if an allogenic transplant is something that is possible, should at least be considered and discussed. 

It doesn’t—speaking with a transplanter, getting typed doesn’t mean you have to get a transplant, but it gives you information and so I think that that would be a reasonable thing to do. Again, the decision at the end, it may not be the right decision for you, but it is something that is information for you to use in making informed decisions. 

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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Page last updated on May 23, 2019