Tag Archive for: molecular mutations

How Do Different Diffuse Large B-Cell Lymphoma Subtypes Impact Treatment Options?

How Do Different Diffuse Large B-Cell Lymphoma Subtypes Impact Treatment Options? from Patient Empowerment Network on Vimeo.

How are diffuse large B-cell lymphoma (DLBCL) subtypes impacting treatment options? Expert Dr. Nirav Shah from the Medical College of Wisconsin explains key factors that help determine DLBCL subtype and the importance of knowing your subtype for optimal care. 

Dr. Nirav Shah is an Associate Professor at the Medical College of Wisconsin. Learn more about Dr. Shah.

[ACT]IVATION TIP:

“…know your subtype of diffuse large B-cell lymphoma, so you can understand what treatment is best for that variant.”

See More from [ACT]IVATED DLBCL

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What Promising Treatments Are Available for Diffuse Large B-Cell Lymphoma Patients

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How Can Patients Overcome Noted Diffuse Large B-Cell Lymphoma Disparities

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Transcript:

Lisa Hatfield:

What are the subtypes of DLBCL, and how does that impact treatment options? 

Dr. Nirav N. Shah:

Yeah, so I think I may have talked about that a little bit earlier. So we call it diffuse large B-cell lymphoma, but it’s really not one disease, there are multiple subtypes, so one thing is a cell of origin, and this sort of says what part of the lymph node does this diffuse large B-cell lymphoma originate from. And so there’s something called the germinal center phenotype. The other one is called the activated B-cell phenotype and prognostically, these sort of behave differently. Currently, we’re treating them the same, but we’re hoping that in the future, we’ll actually have algorithms that are more refined so that they are giving the best treatment for each subtype.

I mentioned earlier that there’s a variant called double-hit lymphoma that we think is particularly aggressive, and for that variant, I would actually consider clinical trials as an option if they’re available to you, but outside of a clinical trial, we do give higher intensity chemotherapy regimens, there’s more than one standard of care in that setting. But, again, important to understand what is your DLBCL type and what are some of these other molecular mutations that might be there that would impact that frontline treatment. So my activation tip for this is to know your subtype of diffuse large B-cell lymphoma, so you can understand what treatment is best for that variant. 


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MPN Treatment: What Is the Role of Biomarkers?

MPN Treatment: What Is the Role of Biomarkers? from Patient Empowerment Network on Vimeo.

What role do biomarkers take in myeloproliferative neoplasm (MPN) treatment? Dr. Naveen Pemmaraju defines biomarkers and explains how molecular mutations play into MPN disease risk levels and treatment options.

Dr. Naveen Pemmaraju is Director of the Blastic Plasmacytoid Dendritic Cell Neoplasm (BPDCN) Program in the Department of Leukemia at The University of Texas MD Anderson Cancer Center. Learn more about Dr. Pemmaraju, here.

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Transcript

Katherine Banwell:

Dr. Pemmaraju, let’s talk about biomarker testing. Can you help us understand what biomarkers are and how they may affect treatments?

Dr. Pemmaraju:     

Yes. Biomarkers – I think that word gets mentioned a lot with really no definition, because it’s one of those words that can be whatever someone wants it to be. So, you’re right. For us, it’s a very important word in MPN. Bio meaning of life, scientific, and then marker meaning some kind of a measuring stick that has a value.

Well, there are two ways to look at biomarkers. One is the obvious, which is we have the defined big three molecular mutations. So, that’s JAK2V617F, followed by CALR mutation, followed by MPL.

Those are the big three. Those make up about 90 percent of all patients with MPNs. You’re technically not born with them, although new data suggests that you may acquire these mutations right after birth. So, those markers are important because they can be used to diagnose the disease, right? Particularly in the challenging patient. They have high platelets, you can’t tell if it’s reactive or ET. Okay, so they’re helpful with diagnosis.

Maybe some studies have shown that some of these markers can be predictive, Katherine, of blood clots. Let that research be ongoing. And then, obviously, some of these may be helpful in terms of designing the future treatments, particularly targeted therapies. So, I think biomarkers are part of our field, if you look at it that way, at diagnosis and risk stratification prognosis. But there are other factors that are starting to come out. One is there are molecular mutations outside of these big three.

So, outside of JAK2, CALR, and MPL, that are very important actually. Not everyone is checking for them. They are ASXL1 mutations, EZH2, IDH1 and 2, so on and so forth.

So, these are extended molecular markers that can be checked at some doctors’ offices that now, in the latest scoring systems, if you have one of those or more than one or two, they can elevate your risk score. So, if you have low risk or intermediate risk myelofibrosis, they may make you intermediate or high risk.

So, that may be a bit more complicated than what most people are aware of. But just so you know, there are markers that can be readily checked that can tell if your disease may be a bit higher risk than we though, say, 10 years ago.

I think other biomarkers that we look at are some of the labs that are just the regular labs that are on almost every panel, but they can tell a lot about the disease. There’s the LDH, lactate dehydrogenase. There are several markers, such as CRP and sed rate.

So, anyway, there are a lot of labs that we can check depending on where you are in your disease state that can kind of tell us a lot about how inflamed you are, how active your disease is at the moment, and then that will lead to further confirmatory tests. So, I think, yeah, in general, this is an active, developing area of research in our MPN field.