Tag Archive for: low-risk disease

Which Gene Mutations Impact Myelofibrosis Treatment Options?

Which Gene Mutations Impact Myelofibrosis Treatment Options? from Patient Empowerment Network on Vimeo.

Are there specific mutations that may affect myelofibrosis treatment choices? Dr. Joseph Scandura explains the factors that are considered when deciding a myelofibrosis therapy, including a discussion of high-risk and low-risk disease.

Dr. Joseph Scandura is Associate Professor of Medicine and Scientific Director of the Silver MPN Center at Weill Cornell Medicine. Learn more about Dr. Scandura, here.

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Katherine Banwell:

Are there gene mutations that affect myelofibrosis treatment choices? 

Dr. Scandura:

Yeah. So, you know, the primary mutations in JAK2 or CALR or MPL in myelofibrosis aren’t that helpful in guiding therapy.  

And we look at the other genes for co-ocurrent mutations and those, as I was mentioning before, can come into one of two categories. So, there are a number of genes that we know tend to confer a higher risk, and so we call those high molecular risk mutations. And people who have higher molecular risk tend to have a more aggressive disease. 

Now, I want to add a word of caution because when we talk about patients and risk, we’re talking about groups of patients. For any individual, everything kind of boils down to it happens, or it doesn’t happen. And so, there’s nobody is 50 percent dead in five years, right. You either are or you’re not. And so, when we talk about risk, then we’re talking about risk of bad things happening like death or other complications of the disease, we’re trying to guide treatment decision-making and guided discussion based on a chance.  

But all of those things, for any individual, there are people who have high risk who do quite well for a long period of time, and people who don’t have high risk who don’t do as well as you think they should. And so, it’s a part of a conversation, it helps guide discussion, but it is not something carved into stone, and nobody has a perfect ability to predict anybody’s future. 

And all of these things are our best tools to estimate, but they are not a future; they are a possibility. And so, people who have higher molecular risk, we might think about more aggressive treatments than people who have lower molecular risk.