Tag Archive for: molecular pathologist

What Is the Purpose of AML Genetic Testing?

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What Is the Purpose of AML Genetic Testing? from Patient Empowerment Network on Vimeo.

How is genetic testing for AML administered, and what is the purpose? Dr. Sanam Loghavi explains the methods of genetic testing and the function of each method.

Dr. Sanam Loghavi is a hematopathologist and molecular pathologist at The University of Texas MD Anderson Cancer Center. Learn more about Dr. Loghavi.

See More From INSIST! AML

Related Resources:

AML Targeted Therapy: How Molecular Test Results Impact Treatment Options

 The Importance of Molecular Testing Following an AML Relapse

 Emerging AML Treatments: What Is Menin Inhibitor Therapy

Transcript:

Katherine Banwell:

Dr. Loghavi, let’s start by defining molecular or genetic testing for AML. How is the test administered, and what is the purpose? 

Dr. Sanam Loghavi:

Sure. So, genetic testing at diagnosis of acute myeloid leukemia is now considered standard of care, and it must be performed for every patient with acute myeloid leukemia.  

We have different methodologies of doing genetic testing, and we can use – so the best sample to perform genetic testing on is really bone marrow. But if there are circulating leukemic cells, then we can also use peripheral blood instead of bone marrow. 

And the genetic tests really three main methodologies are used. One is called routine karyotyping, where we look at and characterize the chromosomes of the cancer cells for the leukemic cells. The other one is fluorescence in situ hybridization, which is another method for visualization of chromosomes, and we can look for deletions, addition of chromosomal material or certain translocations or rearrangements.  

And then next-generation sequencing allows us to look for smaller changes at the DNA level. So, these are single nucleotide variations at the DNA level or smaller insertions or deletions of genetic material.  

The Importance of Molecular Testing Following an AML Relapse

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The Importance of Molecular Testing Following an AML Relapse from Patient Empowerment Network on Vimeo.

Why do you need molecular testing following an AML relapse? Dr. Sanam Loghavi emphasizes the importance of this essential testing and why it’s necessary following relapse.

Dr. Sanam Loghavi is a hematopathologist and molecular pathologist at The University of Texas MD Anderson Cancer Center. Learn more about Dr. Loghavi.

See More From INSIST! AML

Related Resources:

AML Targeted Therapy: How Molecular Test Results Impact Treatment Options

 Advances in AML Research _ Where Do Clinical Trials Fit In

 What Is the Purpose of AML Genetic Testing

Transcript:

Katherine Banwell:

Unfortunately, relapse can happen following a course of treatment for AML. Should patients undergo molecular testing again before choosing another round of therapy?  

Dr. Sanam Loghavi:

100 percent yes, that is always a yes. So, like I said, at baseline there are certain recommendations and the standard of care is to perform genetic testing.  

But I cannot emphasize this enough, that AML or any cancer, for that matter, cancers tend to be smart, so they bypass the mechanisms that we try to eliminate by our targeted therapies.  

So, oftentimes the genetic landscape of disease will actually change upon relapse or what we refer to as clonal evolution, and you may hear this terminology in the literature. So, it’s very important to molecularly or genetically characterize the disease at relapse before you decide how you are going to alter the course of treatment at that point. 

Katherine Banwell:

Dr. Loghavi, what are you excited about in your research right now? 

Dr. Sanam Loghavi:

Sure. So, I’m a pathologist, so I do a lot of molecular testing, and I also do a lot of measurable residual disease testing, and measurable residual disease tends to be one of the most informative factors in the care of patients with acute myeloid leukemia. So, these are the things that we’re very excited about, again, identifying better molecular targets of therapy, being able to measure residual disease at a more sensitive level that allows us to make better informed decisions for the care of our patients. And also, again, identifying the mechanisms of how AML develops in order to be able to eliminate the disease.  

Emerging AML Treatments: What Is Menin Inhibitor Therapy?

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Emerging AML Treatments: What Is Menin Inhibitor Therapy? from Patient Empowerment Network on Vimeo.

How does menin inhibitor therapy work to treat acute myeloid leukemia (AML)? Dr. Sanam Loghavi discusses how this novel targeted therapy in clinical trials is showing promise for patients with the NPM1 mutation or the KMT2A mutation. 

Dr. Sanam Loghavi is a hematopathologist and molecular pathologist at The University of Texas MD Anderson Cancer Center. Learn more about Dr. Loghavi.

See More From INSIST! AML

Related Resources:

AML Targeted Therapy: How Molecular Test Results Impact Treatment Options

 The Importance of Molecular Testing Following an AML Relapse

Transcript:

Katherine Banwell:

Let’s talk about this new groundbreaking menin inhibitor therapy. Can you go into more detail about what the therapy is and who it might be right for? 

Dr. Sanam Loghavi:

Sure. So, right now, the drug really has been tested in the setting of relapsed refractory disease, meaning for patients whose disease has already been treated but has relapsed. And there are certain genetic subtypes of acute myeloid leukemia that are eligible for this disease, or unamenable, sorry, to this targeted therapy. So, these include acute myeloid leukemias with NPM1 mutation or acute myeloid leukemias with KMT2A, or formerly known as the MLL gene-rearrangement. 

And the reason for this that these alterations, these genetic alterations lead to an apparent interaction of menin with KMT2A and the leukemia depends on this interaction. So, what the Menin inhibitor does, it eliminates this interaction and so it’s used for therapy in patients that have this genetic change. 

Katherine Banwell:

Are there other menin inhibitors in development? 

Dr. Sanam Loghavi:

There are. 

Katherine Banwell:

And what are they? 

Dr. Sanam Loghavi:

There are several specific ones that are being tested of different names. So, the one that MD Anderson just published on is revumenib, but there are several ones that are in development. 

Katherine Banwell:

And what about these other inhibitors are showing promise? 

Dr. Sanam Loghavi:

So, if you think about AML, in general, really the only curative therapy that we have, outside of the favorable risk disease, is hematopoietic stem cell transplant. 

And hematopoietic stem cell transplant is not a trivial treatment, it has a lot of side effects in and of itself. So, the goal really is to be able to treat patients with less intensive therapies. And the goal of these targeted therapies is to provide patients with less intensive therapies even compared with chemotherapy, with conventional chemotherapy that tends to be toxic. So, the goal is really to be smart about it and try to figure out how the pathogenesis of disease is developed and to try and eliminate the pathways that that cancer is using to proliferate. 

Katherine Banwell:

If patients are interested in this menin inhibitor therapy, where do they start? Are there trials outside of MD Anderson? 

Dr. Sanam Loghavi:

Yes. These are multi-institutional trials, and I will tell you that the best resource to identify clinical trials is essentially clinicaltrials.gov, dot G-O-V. So, you can go there and look up the active clinical trials by disease type, by location. So, that is the best resource to identify clinical trials.  

AML Targeted Therapy: How Molecular Test Results Impact Treatment Options

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AML Targeted Therapy: How Molecular Test Results Impact Treatment Options from Patient Empowerment Network on Vimeo.

How could the results of molecular testing affect your acute myeloid leukemia (AML) treatment choice? Dr. Sanam Loghavi explains how inhibitor therapy works to treat AML.

Dr. Sanam Loghavi is a hematopathologist and molecular pathologist at The University of Texas MD Anderson Cancer Center. Learn more about Dr. Loghavi.

See More From INSIST! AML

Related Resources:

How Does the Presence of Molecular Markers Affect AML Care

 The Importance of Molecular Testing Following an AML Relapse
 

Transcript:

Katherine Banwell:

Dr. Loghavi, how do molecular test results impact the care plan and treatment choices? 

Dr. Sanam Loghavi:

Sure. So, again, associated with really two major factors in the care of the patient. One is the decision of how intensely to treat the patient and whether or not the patient is a candidate for a hematopoietic stem cell transplant. And then the other is the availability of targeted therapies to those patients.  

So, there are now several molecular alterations that make the disease amenable to treatment with targeted therapies, including mutations in FLT3, which is a name of a gene, mutations in IDH1, IDH1 or IDH2. And again, depending on the change, the patients may receive targeted therapy. 

Katherine Banwell:

Dr. Loghavi, you mentioned inhibitor therapy. What is this treatment, and how does it work? 

Dr. Sanam Loghavi:

Sure. So, again, it depends on the medication and it depends on the molecular change. 

But essentially what happens when you have a mutation in a gene the normal function of that gene is impaired and a lot of the times that’s why you develop leukemia is because of the impairment of that normal function. So, usually what targeted therapies do, if that mutation is causing an apparent activation of let’s say a signaling molecule, then those targeted therapies will block that signaling. Or if it’s a deregulation of an epigenetic – and epigenetic means beyond genetic, so epigenetic factor, then the goal of that targeted therapy is to maintain that normal function or restore that normal function.