Tag Archive for: karyotyping

Essential Testing | Optimizing AML Care With Personalized Medicine

Essential Testing | Optimizing AML Care With Personalized Medicine from Patient Empowerment Network on Vimeo.

Personalized acute myeloid leukemia (AML) care is becoming increasingly common, but how does it work? Dr. Ann-Kathrin Eisfeld defines personalized medicine and reviews the testing that should take place to help create an individualized treatment approach for patients.

Dr. Ann-Kathrin Eisfeld is Director of the Clara D. Bloomfield Center for Leukemia Outcomes Research at The Ohio State University and a member of the Leukemia Research Program at the OSUCCC – James. Learn more about Dr. Eisfeld.

See More From INSIST! AML

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AML Targeted Therapy: How Molecular Test Results Impact Treatment Options

What Is the Purpose of AML Genetic Testing

What is the Purpose of AML Genetic Testing?

How Have Advances in Testing Impacted AML Care


Transcript:

Katherine Banwell:

How would you define personalized medicine as it relates to AML care? 

Dr. Eisfeld:

I define personalized medicine in AML as have a complete testing at time of diagnosis that consists of not only the morphology of the bone marrow, but we call immunophenotyping, which is looking at the surface markers, but also full review of all the chromosomes, which is called cytogenetics. And with those metaphase testing, I’m looking really at all of them and at the hot spots, which is done by a technique called FISH.  

And then most importantly, for personalized testing, it also needs to consist of testing the most common, recurrent gene mutations. Changes in the tumor DNA that we know are contributing to the disease biology and also to the response of the leukemia to different genes. 

Katherine:

I imagine that personalizing therapy for a patient requires a number of tests and then thorough review of the test results. Could you provide an overview of the tests necessary to help understand a patient’s specific AML? 

Dr. Eisfeld:

Yes. Absolutely. There are multiple things that go in. And let me –even before we go into the tests – point out one thing. Because as we talk about individualized care – and it is also important to keep in mind that it will be also dependent on the age and of the performance status of the patient. 

Because we know that all the changes that are going to be reviewed might be more or less severe depending on really the age of the patient we are discussing. The most critical aspect for every AML patient is a bone marrow biopsy and a bone marrow aspirate on which the testing that I have been referring to are performed.  

One, it gives us information about how the – after review of the hematologist, it gives us information about the specific kind of the leukemic cell.  

And very importantly – and this is a very more recent development that we know about that’s important. It also tells us whether the acute leukemia is really happening as an acute leukemia or whether the patient without knowing it before might have had a precursor issue. And this is something that by now really in just about half a year we can use in addition to direct treatment.  

So, it seems like an ancient thing that we think that the microscopic review is important. But that is one part of it.  

The second part – and this is, again, all based on the bone marrow biopsy. The inspection of chromosomes, as I mentioned, may be called cytogenetics. This test takes longer. It sometimes takes up to two weeks to result. And similar, looking at the tumor DNAs and mutations that is done either if you’re at a large institution such as Ohio State or other cancer centers. It’s done in house. Whereas at smaller institutions, it would be done by a sent-out testing that has these recommended gene mutation testings done. And some of those result just within a couple of days.  

And these are – but we can talk. And I know we are going to talk a little bit more about it later, but we now have targeted therapies available. This is a really super exciting topic we couldn’t have talked about just even five years ago. And those mutations and those DNA changes come back usually within three to five days.  

So, that we are able to decide on treatment. 

Katherine Banwell:

How can someone ensure they’re getting an accurate diagnosis? 

Dr. Eisfeld:

That’s a very good question. I think the most important part is to go to somebody who has seen acute leukemias as a living. It is a very rare cancer as you know. And if you are seen even by a general oncologist who might be a fantastic oncologist, he might just see one or two cases per year. And thus, might not be up-to-date on the newest recommendations. So, I can just advise anybody – even if he lives further away and trusts his physician a lot – to – for the diagnosis and for treatment planning, come to a comprehensive cancer center, at least for a therapy planning. Because what is now possible is many of these treatments is that we can just give advice.  

And then you can still receive treatment in some cases really back at home. But be sure the testing was done correctly. And really give you every option to take into consideration what the best treatment would be for you, what the best treatment is for the patient. Having this trip – which can be hours of a drive. And I appreciate this. Having that done once would be, I think, the best thing to do. 

What Is the Purpose of AML Genetic Testing?

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.

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AML Targeted Therapy: How Molecular Test Results Impact Treatment Options

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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.  

Navigating AML Treatment Decisions

Navigating AML Treatment Decisions from Patient Empowerment Network on Vimeo.

What factors can help determine the best treatment path for your AML? This animated video walks through important considerations that may help in navigating treatment decisions, including how genetic testing results, treatment goals and patient preference can impact your choice.

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Genetic Mutations That Affect AML Prognosis and Treatment

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Effective AML Combination Treatment

Transcript:

Hi, I’m Gina. I’m a nurse practitioner and I specialize in acute myeloid leukemia, or AML.

When diagnosed with AML, it’s important to take steps to get a deeper understanding of your disease, and the available treatment options, so that you can feel confident in your care decisions.

Before we walk through the important steps to decide on a treatment path, I want to remind you that this video is intended to help educate AML patients and their loved ones and shouldn’t be a replacement for advice from your doctor.

OK, let’s get started.

The first step is to understand your diagnosis, so that you can find out what treatments are available to you. Unlike solid tumor cancers, such as lung or breast cancer, AML is not staged. Instead, your physician will use lab testing, including blood and bone marrow tests, to determine the subtype of your AML and if you have any chromosomal abnormalities to determine if your AML is low, intermediate or high-risk.

Knowing your risk can impact your prognosis and help establish the best treatment option for you. If you don’t know your subtype, ask your doctor for the information and if you may need further testing to reach a more accurate diagnosis.

Testing that identifies characteristics unique to YOUR AML can impact your treatment options and determine if a targeted therapy or immunotherapy might be more effective. These tests include:

  • Molecular testing
  • Cytogenetic analysis (or karyotyping), and
  • Fluorescence in situ hybridization also known as a FISH test

Before you start any treatment, it’s essential to insist that you have had relevant testing.

Next, you should understand treatment goals. The first goal of AML therapy is to get into remission. The second goal is to maintain that remission.

Induction therapy, or the first phase of treatment, is meant to induce remission. This first-line treatment kills as much of the disease as possible and returns blood counts back to normal.

Consolidation treatment, also referred to as post-remission therapy, is used to prevent leukemia cells from returning and maintain remission. In some patients, stem cell transplant acts as a consolidation therapy. In others, additional treatment options to maintain remission can be explored.

The next step is to consider your treatment options with your doctor. It’s important to understand the approaches available for YOUR individual disease. AML treatments can include:

  • Chemotherapy
  • Targeted therapy
  • Stem cell transplant
  • Immunotherapy
  • Clinical trials, which may provide access to treatments that are not yet approved.

Or, you may receive a combination of one or more of these treatments.

Once you understand the therapies that are available to you, it’s time to talk to your doctor about the risks and benefits of each option. Your doctor will also consider your age, overall health, and existing conditions before suggesting a treatment course.

So, what questions should you address when discussing your treatment goals with your doctor? Consider asking:

  • Is stem cell transplant a viable option for you?
  • Can you tolerate high-intensity therapy or is low-intensity therapy better for you?
  • How will the treatment impact your quality of life and lifestyle?
  • Are there short or long-term treatment side effects that may occur after you have completed treatment?
  • What is the plan if the first approach to treatment isn’t effective?
  • Is there a clinical trial that might be right for you?
  • Is there a member of the team, such as a social worker, that can help you understand the potential treatment costs? And is there access to financial resources that can help you if needed?

Remember that you have a role in making decisions regarding your care. Insist that all of your questions are answered when making a decision with your healthcare team. If you don’t feel supported or you don’t feel heard by your healthcare team, then it is always best to seek a second opinion.

Finally, once you have gathered all the information, it may be helpful to talk it out with people you trust, such as a partner, friend or family member, to help you make a decision that you feel confident about.

Now, how can you put this information to work for you?

  • Ensure that you have an accurate understanding of your diagnosis.
  • Make sure you have had appropriate testing to establish your subtype and risk.
  • Understand your treatment options and talk with your doctor about what’s best for YOUR AML.
  • Remember, you are a partner in your care and have an active voice in finding the best treatment for you.

Visit powerfulpatients.org/aml to learn more about AML.

Navigating Lung Cancer Treatment Decisions

Navigating Lung Cancer Treatment Decisions from Patient Empowerment Network on Vimeo.

What steps could help you and your doctor decide on the best treatment path for your individual disease? This animated video walks through key considerations, including molecular testing results, lifestyle factors and patient preference.

See More From the The Pro-Active Lung Cancer Patient Toolkit

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Diagnosed with Lung Cancer? Why You Should Seek a Second Opinion

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Diagnosed with Lung Cancer? An Expert Outlines Key Steps


Transcript:

Hi, I’m Kendra. I’m a nurse practitioner and I specialize in lung cancer.

When diagnosed with lung cancer, it’s important to take steps to get a deeper understanding of your disease, and the available treatment options, so that you can feel confident in your care decisions.

Before we walk through the actions that can help you decide on a treatment path, I want to remind you that this video is intended to help educate lung cancer patients and their loved ones and shouldn’t be a replacement for advice from your doctor.

OK, let’s get started.

The first step is to understand your diagnosis—including the type of lung cancer and stage of disease—so that you can find out what treatments are available to you. Your physician will use tests, including biopsies and imaging, such as X-rays and CT scans, to ensure you have an accurate diagnosis.

The next step is to understand the approaches available for YOUR individual disease.
Depending on your stage and type of lung cancer, treatments can include:

  • Surgery
  • Radiation therapy
  • Chemotherapy
  • Targeted therapy or
  • Immunotherapy

Or, you may receive a combination of one or more of these treatments.

Other testing that can impact your treatment options is molecular testing, which is used to identify specific mutations that are unique to your lung cancer. This may help in deciding if targeted therapies are an appropriate option for you.

Before you start any treatment, it’s essential to ask your doctor if you have had relevant molecular testing.

Another option that your physician may discuss with you is clinical trials, which may provide access to treatments that are not yet approved. At different points on your path with lung cancer, it’s important to talk with your doctor about whether there is a clinical trial that could be right for you.

Once you understand the treatments that are available to you, it’s time to talk to your doctor about the risks and benefits of each option and walk through the goals of your treatment.

One of the most important factors that your healthcare team will consider is YOUR treatment goals. Remember, you are a partner in your care and have an active voice in finding the best treatment for you. Physicians also typically consider a patient’s age, overall health, and existing conditions before they suggest a course.

So, what questions should you address when you are discussing your treatment goals with your doctor? Consider asking:

  • Is the goal of the treatment to cure your disease or to obtain long-term control your disease?
  • How effective will the treatment be and how will it impact your quality of life and lifestyle?
  • What are the treatment side effects–both the short-term effects as well as long-term effects that may occur after you have completed treatment?
  • Is there a member of the team, such as a social worker, that can help you understand the potential treatment costs? And is there access to financial resources that can help you if needed?
  • Are there supportive care options that can help with symptoms and pain management at any stage of your cancer?

It also may be a good idea to consider a second, or even third opinion consultation with a specialist. And, if you don’t feel supported or you don’t feel heard by your healthcare team, then it is always best to get another opinion.

Finally, once you have gathered all the information, it may be helpful to talk it out with people you trust, such as a partner, friend or family member, to help you make a decision that you feel confident about.

Now, how can you put this information to work for you?

  • Make sure you understand your type and stage of your lung cancer and the goals of your treatment options.
  • Talk to your physician about what you’ve learned.
  • Consider a consultation with a lung cancer specialist.
  • Ask about molecular testing and what testing results mean for you.
  • Discuss whether clinical trials are an option for your cancer.
  • Visit credible online resources to stay up to date on lung cancer information.
  • Visit powerfulpatients.org/lungcancer to learn more about lung cancer.