Genetic Subtypes for AML: How Does Mutational Status Influence Care?

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Andrew Schorr:

So we've alluded to changes in AML, payoffs in research.  You're still in the lab moving research forward with your peers around the world. You all are making progress, am I right? The world and the options, the combinations, things you're researching, that's all changing incredibly fast.  

Dr. Borate:

I think in the last I would say four to five years, and Amanda can attest to this, we've had over nine FDA?approved therapies for AML after about four decades of no progress.  And a lot of this has come with discoveries in the lab where we have identified specific genes that have had genetic changes, what we call genetic mutations, that lead to a patient developing AML.  

And now we have what we call targeted therapies where we can target that specific genetic mutation and therefor destroy the AML cells in a way that doesn't expose the patient to a lot of additional toxicities.  However, for a certain subset of the AML patients, like Don, we know that these targeted therapies can work for a while, but if you are going for what we call a curative active therapy, for a lot of patients transplant is still right now one of the most, I think, advocated and proven curative therapies out there.  

Andrew Schorr:

Okay.  So let's talk about testing.  So somebody is diagnosed with AML.  What should happen now so that you as a specialist, the doctor, the team that they see, they know what version of AML you have and whether it matches up with either one of these approved therapies or maybe something you at an academic medical center are researching that could be the drug of tomorrow?  

Dr. Borate:

So I think that's a great question, and for patients or family members or anybody else listening out there I think what you a alluded to as the most crucial step in the diagnosis of AML and the subtype of AML is the testing.  So as soon as we identify a patient, like Don described, typically it's, you know, you don't feel well.  You go to somebody, they say, oh, my god, your blood work doesn't look right. You go to another doctor.  

The first thing that we ask that happens is when a bone marrow biopsy, which is the diagnostic procedure that gives you the diagnosis of AML is done, that it be subjected to adequate genetic testing.  And by this I mean there are many, many laboratories out there that do what we call expanded genetic mutational panels, and they test for all the different genes that could have a mutation that potentially could be targeted or make the patient a candidate for a clinical trial in the future.  

The Leukemia & Lymphoma Society is sponsoring an extremely revolutionary trial called BDML, which we are a part of, which does this testing and returns the results back to the clinical provider or the physician in seven days, which is really unheard of in terms of a timeline.  This used to take about two weeks on average.  

And so in seven days I know all the genetic changes in my patient's leukemia and I can determine, hey, is this the right therapy for them?  Should they go on a clinical trial that we have?  And BDML offers several of what we call (?) Inaudible that are used to match them to the appropriate clinical trial or the appropriate drug. 

Andrew Schorr:

Okay.  So, Amanda, let's talk about this for a second.  So, oh, my God, a patient is diagnosed with this acute condition.  Don found himself in the hospital right away, and I understand there can be different versions of AML.  Some like do not pass go, boom, you're going to the emergency room at the hospital right away, or some there's a little more time.  But a call comes to you, and people want to feel confident that where they are or where—do they go to this hospital or that hospital, this clinic or that one.  They get someone who is knowledgeable when the whole world of AML has been changing. 

So how do you counsel people so they get the right testing and just all the range of options are considered for them?  

Amanda Fowler:

Sure.  Absolutely.  So I should say a lot of the calls, particularly for the acute leukemias, actually come not from the patient but from the caregiver.  The patient is often sick and overwhelmed, and it's a family member who is making the calls.  Of course we are having to talk to both the patient or the caregiver, but it is really important to be at a center of excellence for this diagnosis.   

Not all hospitals are equipped to handle AML.  If you're lucky, a local hospital will see that and send you on to the bigger center, but sometimes that work does fall on the family member.  We recommend that people go to university?type settings or National Cancer Institute comprehensive cancer centers.  These are going to be the larger hospitals that understand what tests are involved.  They will have clinical trials as options, and they will be knowledgeable on the latest treatment options.  

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.