What’s Next in AML Treatment and Research?

/in , , , , , , , , /by

What’s Next in AML Treatment and Research? from Patient Empowerment Network on Vimeo.

Dr. Pinkal Desai, an AML specialist, discusses research in-progress on MRD testing and pre-disease mutations in leukemia.

Dr. Pinkal Desai is an Assistant Professor of Medicine at Weill Cornell Medical College and Assistant Attending Physician at the New York-Presbyterian Hospital. More about this expert here.

More From INSIST! AML

Related Resources

AML Genetic Testing Explained

Second Opinions in AML: The Importance of Moving Swiftly

Fact or Fiction? AML Treatment & Side Effects

Subscribe to stay up-to-date in the latest information in AML treatment and research

* indicates required



<script><script>

Transcript:

Dr. Pinkal Desai:         

So we at Weill Cornell are a big leukemia center, and we are leading a lot of the clinical trials in AML, both in the upfront and the relapse setting. There are several research initiatives that we are highly interested in. One of them is how to incorporate some of these targeted treatments, both in the upfront and in the relapse setting.

The most important one that we’re actively working on is to monitor these patients, so MRD testing, or minimal residual testing, is extremely relevant in order to figure out whether the treatments are working in the right fashion, and would you change treatment or would it impact the patient’s overall survival if some of these mutations persist or not.

And we are really interested in monitoring these patients and these mutations to figure out a plan which is targeted not only for the mutation but also for the specific patient, and that is one of the things that we are very interested in and doing at Cornell.

We’re also looking at pre-disease mutations. There are several mutations – this is personally my research interest as well – there are certain people who are at risk of developing leukemia; for example, people who are undergoing chemotherapy for other cancers, and the presence of some of these mutations before the diagnosis of leukemia would highly be relevant because if we’re monitoring some of these people and figuring out who can develop this leukemia and can you do something about it, so this is sort of more on the prevention aspect of leukemia or secondary leukemia, which is also something we are interested in at Cornell and ongoing research is for us.

But the most important things is obviously for patients who actually have the diagnosis of AML, the best available agents as part of clinical trials, the best way to monitor them and design treatments so that we can achieve the best possible results for the patient is what we are striving for at Cornell, and it would be extremely helpful for patients to enroll into these trials and contribute both to their own treatment outcomes and also to the AML community at large.

Genetic Testing in AML: What Are Doctors Looking For?

/in , , , , /by

Genetic Testing in AML: What Are Doctors Looking For? from Patient Empowerment Network on Vimeo.

Dr. Pinkal Desai, from Weill Cornell Medicine, discusses the genetic testing required in AML, including mutations and changes in chromosomes that are being identified, and how these results can impact risk and prognosis.

Dr. Pinkal Desai is an Assistant Professor of Medicine at Weill Cornell Medical College and Assistant Attending Physician at the New York-Presbyterian Hospital. More about this expert here.

More From INSIST! AML

Related Resources

AML Genetic Testing Explained

 Why Should AML Patients Undergo Genetic Testing?  

Why Should AML Patients Undergo Genetic Testing?

   

Key Genetic Testing after an AML Diagnosis

Transcript:

Dr. Pinkal Desai:         

So there are several genes that we look for, but the most important ones from a standpoint of choosing treatments and monitoring, the first one would be FLT3. There are two kinds of FLT3 mutations, ITD and TKD; both can have different drugs that target them.

This is relevant because some of the upfront management, even when we choose – in younger patients, for example, when we are choosing chemotherapy, there are approved FLT3 agents that can be added to the chemotherapy. For example, Midostaurin, that’s a FLT3 inhibitor; we use that, and it’s important to know the FLT3 results, and preferably within 48 hours from the diagnosis, in order to choose the right treatment.

The other mutations that are relevant are IDH1 and IDH2. Both of them have approved targeted treatment against them, so depending on the clinical scenario of the patient, whether it’s new diagnosis or a relapse, these mutations are important to test, and the same for FLT3 as well.

I want to clarify here that sometimes the molecular mutations are absolutely important at diagnosis, but some of these mutations are also important to be retested in people who have relapsed because it’s not always the case that what is present at baseline may be the same at the time of relapse.

It’s possible that the clone is different, so some of these targeted mutations against which we have drugs, like FLT3, IDH, we need to test these mutations at relapse to make sure that we’re not missing them, particularly if they were present at diagnosis. The other mutation that is also relevant is TP53 because there are ongoing clinical trials that are targeting against these mutations, so the relevance of mutations are not only important in approved agents, but also in the ongoing clinical trials that are targeting these mutations.

 NPM1 is the other important mutation that is important in risk profiling, as well as monitoring over time to see if we can anticipate relapse or do something about it in the future.

There’s a laundry list of other mutations, but these are – I don’t think that patients should get lost into the individual mutations at the beginning. I think the relevant point here is that all of these need to be sent, and once the panel comes back with all of these mutations, then it’s time to sit down and go through, “Okay, the patient has FLT3, NPM1, plus some other mutation. What does that mean for me?” I think that’s what the patients should be asking. “Okay, I got these three mutations. I have these four mutations. Tell me how this is going to impact my care and my chances of survival?” I think that’s the most important thing.

Everybody’s leukemia is different. It’s more than a mixed bag; it’s actually unique to patients. Someone’s profile and genetic signature is different than someone else’s.

It’s important that every mutation is actually dealt with in relation to the other because it’s not just the presence of individual mutations, but the combinations of all of these mutations that are high relevant in figuring out whether this is important in the future or not. 

Why Should AML Patients Undergo Genetic Testing?

/in , , , , /by

Why Should AML Patients Undergo Genetic Testing? from Patient Empowerment Network on Vimeo.

AML expert, Dr. Pinkal Desai, explains the necessity of genetic testing when AML is diagnosed, including an overview of relevant tests and how results can affect prognosis, risk factors and treatment.

Dr. Pinkal Desai is an Assistant Professor of Medicine at Weill Cornell Medical College and Assistant Attending Physician at the New York-Presbyterian Hospital. More about this expert here.

More From INSIST! AML

Subscribe to stay up-to-date in the latest information in AML testing

* indicates required



<script><script>

Related Resources

AML Genetic Testing Explained

The Pro-Active AML Patient Toolkit

 What Causes a Gene Mutation?

What Causes a Gene Mutation?

Transcript:

Dr. Pinkal Desai:         

So the reason that genetic testing is important and the patient should go through genetic testing after a diagnosis of AML, there are several reasons, actually, and we’ll go one by one. But before I go there, I want to clarify that genetic testing in AML does not mean that we’re testing for whether the patient inherits this mutation or genetic abnormality.

This is actually a mutation or genetic damage in the leukemia cells and not in the patient’s body elsewhere, so it’s important; this is a tumor-defining test and not meant to actually figure out whether this is inherited or not because most AML is actually not inherited. The other part that I want to focus on is that this testing, genetic testing or molecular testing or molecular profiling of leukemia, as we call it, is different than cytogenetics. Sometimes patients can be a little bit confused between what is molecular profiling and what is cytogenetics. Cytogenetics are big DNA or big changes in the chromosomes, while molecular mutations are single point gene mutations, which requires a much more detailed analysis of the leukemia cells.

The reasons that this testing is important, and the other part of it is that it’s just not after; it’s actually during the whole process of diagnosis of AML. If AML is suspected, then it should be done on the diagnosis bone marrow at the time when we’re drawing the blood. Otherwise, many times patients have to repeat a bone marrow biopsy to get this testing. So if something is already suspected that we are gonna maybe find leukemia, this should be done at the time of diagnosis. The first reason, which is the most important, is that when we do this molecular testing there’s a set of genes that we test. It’s 200s, 300s; every panel is a little bit different, but generally have the best components that we care about in the AML diagnosis.

There are targeted treatments against some of these mutations, and it’s important to know these mutations before the treatment begins. Not all mutations will change the way the treatment is designed, but there are certain mutations like FLT3, IDH, where it might matter as to what you choose as the frontline or the first line treatment, so it’s important that we actually get these results, at least some of these results, by the time we decide to choose the right treatment for the patient.

The second reason this is relevant is when patients go through AML induction or the first line treatment, the goal of which is induce remission, once they are in remission, the work is not done. There are several other things that we have to do and more treatments that are designed based on this molecular testing.

For example, depending on the molecular testing and the cytogenetics or the chromosomes, we profile patients as low risk, intermediate risk, or high risk. This risk means what is the likelihood that this leukemia will come back in the future, and how would that impact the patient’s survival? Some of the post-remission treatments are designed to change depending on the results of these mutations, so it’s important to actually know this at diagnosis because then the patients would go into remission, and yet we have to make a decision on what kind of best treatment to give post-remission in order to make sure that the patient is cured, or we maximize the chance of cure in this patient.

So the kind of chemotherapy, whether to transplant or not transplant, all of this is dependent on the molecular mutations. The third reason, which is becoming more and more relevant now in AML, is some of these mutations can be monitored over time.  

 It’s a much detailed testing to know the kind of remission or the extent of remission that they patient achieves, and you can actually follow these mutations over time, even in remission, to know that – is the molecular mutation zero, is it 0.2%? This is a very upcoming field in AML, and the idea of monitoring these mutations is relevant because if you have a mutation, can you do something about it post-remission? Would that alter some of the treatments? Would that help us anticipate if a relapse is coming before the actual clinical relapse happens and the blood counts go abnormal? Can we anticipate is this patient likely to relapse, for example, six months later, and could you prevent these relapses?

These are all the reasons why these genetic testing or molecular profiling of leukemia is highly relevant in the field of leukemia. We all cannot even make a decision anymore without having this full panel. 

AML Genetic Testing Explained

/in , , , , , /by

AML Genetic Testing Explained from Patient Empowerment Network on Vimeo.

 Acute myeloid leukemia, or AML, has many subtypes and understanding your individual disease is key to accessing personalized therapy. Learn about the role that genetic testing plays in guiding your AML treatment options in this explanatory video. Want to Learn More? Download Your AML Navigator Resource Guide, here. 

More From INSIST! AML

Related Resources

Why Should You Become Educated about Your AML?

Why Should You Become Educated about Your AML?  

Predictive (Familial) Genetic Testing vs. Cancer Genetic Testing: What's the Difference?

Predictive (Familial) Genetic Testing vs. Cancer Genetic Testing: What’s the Difference?

Key Genetic Testing after an AML Diagnosis

Transcript:

Acute myeloid leukemia, or AML, is a complex cancer that begins in the bone marrow.

Not all AML patients have the same disease. AML has many subtypes and understanding YOUR individual disease and subtype is key to accessing personalized therapy.

How can you learn more about your AML?

Genetic tests can provide more detail about your specific AML

These tests use laboratory approaches to identify changes in chromosomes, genes or proteins. A gene mutation is an abnormal change in a gene’s DNA sequence.

The results of genetic tests can inform your prognosis and treatment options.

The types of genetic tests that physicians use for patients with AML include:

  • Cytogenetic Analysis (or Karyotyping)
  • Fluorescence in situ Hybridization also known as a FISH test
  • Molecular Testing, which includes:
    • Polymerase chain reaction – PCR for short
    • DNA sequencing;
    • and Next-generation sequencing

Your healthcare team can help decide which test is best for you.

Genetic test results are used to identify genetic mutations that determine your specific AML subtype and help your healthcare team to better understand your prognosis, treatment path and assess how well therapy is working.

Once you have your results, there a number of targeted therapies currently available for AML.

Targeted therapies block the growth of cancer by interfering with specific molecules involved in the progression and spread of cancer. 

Targeted therapies include a class of treatment called “Inhibitors.”   AML Inhibitor therapies that target a genetic mutation include FLT3 Inhibitors and IDH Inhibitors.

Novel inhibitor therapies that are used across all mutational subtypes of AML include BCL-2 inhibitors and hedgehog inhibitors

Research is moving quickly in this field as new treatments are being studied to target genetic mutations in AML and other diseases.

How can you take action?

First, make sure you seek the opinion of an AML specialist. Discuss which tests you should undergo and review the results with your doctor. Educate yourself by doing some of your own research on the findings then collaborate with your healthcare team to determine a personalized treatment plan for your AML.  Finally, follow-up with your doctor regularly to understand when you should be re-tested.

Want to learn more? Start here.

Predictive (Familial) Genetic Testing vs. Cancer Genetic Testing: What’s the Difference?

/in , , , , /by

Predictive (Familial) Genetic Testing vs. Cancer Genetic Testing: What’s the Difference? from Patient Empowerment Network on Vimeo.

Brittany DeGreef, a genetic counselor, explains the difference between hereditary genetic testing for cancer risk and genetic testing following a cancer diagnosis.

Brittany DeGreef is a Genetic Counselor at Robert H. Lurie Comprehensive Cancer Center of Northwestern University. More about this expert.

See More From the The Pro-Active AML Patient Toolkit

Related Resources

 Find Your Voice Resource Guide  Key Genetic Testing After an AML Diagnosis  Genetic Testing Explained

Transcript:

My name is Brittany DeGreef and I am a licensed and certified genetic counselor and I work primarily in oncology genetics. At the Lurie Cancer Center, what I do is I provide comprehensive genetic counseling services for patients and families. Basically, what I do is take in family and personal history.

I help interpret what patterns we’re seeing in families. I provide risk assessment. Then we order and interpret genetic testing results. Based on those results, sometimes we make medical management recommendations for patients and families within a multi-disciplinary team within oncology at Northwestern.

The difference between predictive genetic testing and cancer genetic testing – let’s start with predictive genetic testing first. This means that we are testing someone who might be at risk for a specific hereditary condition, in particular, hereditary cancer syndromes.

In this case, what we’re doing is testing someone who is asymptomatic or does not have any signs of cancer at this point. What we’re trying to do is to identify if that person might be at high risk for specific cancers and implement certain screening strategies to risk reduction procedures and implement surveillance, if needed, if someone is at high risk for specific cancers.

When we think of cancer genetic testing, this person is likely already diagnosed with cancer and what we’re doing is trying to figure out if this person inherited something from either their mom or dad that placed them at a higher risk to get cancer in the first place.

In the past, this type of testing did not impact treatment strategies. But recently, this has been kind of the forefront of medicine where we are seeing patients who are just diagnosed with cancer and they are using genetic testing information to then incorporate that into their treatment approach.

Key Genetic Testing after an AML Diagnosis

/in , , , , /by

Key Genetic Testing after an AML Diagnosis from Patient Empowerment Network on Vimeo.

Dr. Elizabeth Bowhay-Carnes provides advice on key genetic tests that should take place after an AML diagnosis and how they can inform your treatment options. Download the Find Your Voice Resource Guide here.

Dr. Elizabeth Bowhay–Carnes is Director of the Adult Non-Malignant Hematology Program and Co-Director of the Adolescent/Young Adult Oncology Program at Mays Cancer Center, home to UT Health San Antonio MD Anderson Cancer Center.  More about this expert.

See More From the The Pro-Active AML Patient Toolkit

Related Resources

Optimize Your First Visit with Your AML Team Why Should You Become Educated About Your AML?  Why Should Patients Be Hopeful About AML Treatment Options?

Transcript:

Transcript: 

When a patient is first diagnosed with AML, or Acute Myeloid Leukemia, that test comes back initially as a test called flow cytometry, and that is really just one of the very first initial tests that is needed in the workup.   

AML does not have traditional staging, as solid tumors have. There’s no such thing as a stage one, two, three, four. Instead, AML is divided into different risk categories. We call those low-risk, intermediate-risk, or high-risk, or sometimes we use the term standard-risk, intermediate-risk, high-risk.  

And that information is determined from some specialty tests that we call cytogenetics. Sometimes we use the term molecular testing or next-generation sequencing. Those three different terms, cytogenetics, molecular, next generation sequencing, are all specialty lab tests that help us determine what risk category group does a patient fall in.  

So, when a patient is first diagnosed with AML, that is very important to establish the initial diagnosis, but there’s those important follow-up tests that are done over the following weeks of treatment, from diagnosis at the beginning of treatment, that determine what a patient’s risk categories are. That information is very important because when we talk about initial treatment, a lot of the time that initial treatment is the same for all patients.   

But then, there are other medications that can be added on, or different steps in the treatment process, that vary based on a patient’s individual risk category and risk characteristic.