Tag Archive for: Translocation

How Is MGUS Monitored?

How Is MGUS Monitored? from Patient Empowerment Network on Vimeo.

Myeloma expert Dr. Irene Ghobrial discusses how patients with monoclonal gammopathy of undetermined significance (MGUS) are monitored over time and shares an update on research being conducted to learn more about this myeloma precursor condition.

Dr. Irene Ghobrial is Director of the Clinical Investigator Research Program at Dana-Farber Cancer Institute and Professor of Medicine at Harvard Medical School. Learn more about Dr. Ghobrial.

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Transcript:

Katherine Banwell:

Dr. Ghobrial, how are people with MGUS monitored? 

Dr. Irene Ghobrial:

Yes, so how do we even diagnose them, right? It’s a big question because it’s incidentally found. Someone will go to their primary care doctor and have a little bit of a high protein or slight anemia, and it may not be related, and then their doctor will check for serum protein electrophoresis, and that’s pure luck. We want to take away luck from this equation. We want to take away chance from this equation. 

And we want to start screening people who are at risk, and we are doing that with the PROMISE study. It’s online available to everyone nationwide, international now, where you can sign up on promisestudy.org and try to ask the question that we do for you research level, the serum protein electrophoresis, and a new test called mass spectrometry that is much more sensitive than SPEP to find it. 

Now, once we find MGUS, we want to know what is my own personal risk of progressing to myeloma? Because I could be 30 years old with MGUS, and likely I will progress to myeloma in the next 10 years, 20 years, and by the time I’m age 60, I would have been diagnosed with myeloma. Just a true case in many, many people. If people are diagnosed today with myeloma, they are going to their doctor because they had back pain or anemia, and they are diagnosed with myeloma. In almost all of the cases, they would have had MGUS and smoldering, but they didn’t know about it three years ago, four years ago because they never got tested for it. 

So, we want to change that completely and become proactive rather than being reactive and waiting for symptoms to happen. Once you have MGUS or smoldering, because we don’t know, we start looking for all of the things to help us identify your risk of progression. So, we look at the height of your M-spike. Is it small or big? And then we in many cases say okay, maybe you need a bone marrow biopsy if your M-spike is a little bit on the higher side because we don’t want to miss smoldering myeloma, which will change the prognosis. 

And then we start looking at do you have anemia? Do you have kidney failure? Do you have any of the other things that may predict that you may be actually going into myeloma? 

We also look at it more as a movie rather than as a snapshot, rather than a picture. If your M-spike is changing or your light chain is changing every three months, every six months, that’s an indicator that the cancer cells are doing something. They’re working in there and growing, and that’s why they’re increasing the M-spike and the light chain. 

And that evolving number is actually a very big predictor of telling us that there is a risk of progressing. Those are all clinical markers that we can do. When we look at the FISH, which we talked about, we can tell the certain markers are chromosomal changes that tell you that those cancer cells want to grow a little bit faster. So, 1q abnormality, 4;14, 14;16, 17p, all of those have been shown that when you have them, the cancer cells are not just sitting around and doing nothing. They’re actually starting to grow, and we want to catch them and understand what is the biology of the disease rather than just how many cancer cells you have. 

We do a lot of research level, and potentially now we’re going to give them back to the patients as clinical level, where we can give you more information about that prediction of your risk of progression. One of my colleagues calls it predicting the hurricane. We know that the hurricane will happen, and it’s a question of how precise could you be? We’re the Weather Channel men here.  

And we could be very precise and tell you it’s going to hit Miami at 2:00 in the afternoon tomorrow, and you could be prepared for it and get out of there. Or, you could be completely unprepared because we were not very accurate in our prediction and tell you it may hit the whole East Coast in the next two weeks. That’s not accuracy. So, we want to be more accurate in our prediction of myeloma because one person will never develop myeloma and can go have fun and enjoy life and not be worried and anxious about their risk, and another person we might say let’s watch you more carefully, or let’s think of interception preventing things. 

So, we do things called next-generation sequencing, taking all of those small numbers of cancer cells, even as little as single cells, and we can do whole genome sequencing and give back that information.  

We look at the immune cells and give back that information. We can do mass spectrometry. And with Betsy and Omar, we’re doing more and more tests so that when we have this prediction model, circulating tumor cells and so on, we can be more accurate in giving you that prediction. 

And help you make the next decision of are we watching carefully, are we preventing and intervening with behavior modification with other things? Are we intervening with therapy to intercept the disease? 

Katherine Banwell:

When are more in-depth tests necessary?  

Dr. Irene Ghobrial:

It depends, of course, on everything. I would probably say for every patient, it is a unique discussion. Some patients will tell me, “Let’s watch again in three to six months, and then I will do more testing,” and some patients want to know everything immediately. And we have those discussions with every patient, and we tailor our therapy as well as our diagnostics workup with every patient, depending on how much they want to know, how much their risk is, and how much they want to be involved in that discussion of how much to prevent myeloma. 

What Should You Ask Your Doctor About Myeloma Testing?

What Should You Ask Your Doctor About Myeloma Testing? from Patient Empowerment Network on Vimeo.

Testing and test results may affect your myeloma care and treatment. Dr. Nina Shah, a myeloma expert, shares key questions to ask your doctor about testing and reviews testing techniques for myeloma. 

Dr. Nina Shah is Associate Professor of Medicine in the Fepartment of Medicine at the University of California San Francisco (UCSF) and treats patients at the Hematology and Blood and Marrow Transplant Clinic at UCSF Helen Diller Family Comprehensive Cancer Center. Learn more about Dr. Shah, here.

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Transcript:

Katherine Banwell:

If a patient wants testing beyond the standard, what should they be asking their doctors for?

Dr. Shah:

Well, thankfully a lot of these tests can be done as a standard. We actually have some approved testing for it. So, the most important thing is to ask the doctor at all. For example, the patient may ask, 1.) “When will my next bone marrow biopsy be?” and 2.) “When I get that bone marrow biopsy, will you be looking at cytogenetics and FISH?” and 3.) “When you get the bone marrow biopsy, will you be also looking for minimal residual disease?” And finally, “What technique will you use to look for that minimal residual disease?” There are different ones that the patients might find useful to know about.

Katherine Banwell:

What are some of the different techniques?

Dr. Shah:

There are a variety of ways that we can look for minimal residual disease. One of them is called flow cytometry. What that is is you send all the cells that are in the bone marrow through a chute, and in that chute you can sort of detect one or however many cells that are – that have a specific characteristic on their cell surface.

You think of it as a bunch of balls with lollipops sticking out of it. And based on the characteristics of those lollipops, you can tell if there are any plasma cells or myeloma cells. Another thing we do with minimal residual disease, another technique, is called the next-gen sequencing or NGS.

And for that, we need to know the specific DNA sequence that is very personal to your myeloma cells. So, your particular plasma cell or the cancer cell will have a sort of sequence, a specific sequence that can be identified when you’re first diagnosed. And if you have access to that tissue, that can be sent off to the company, and they use that as sort of a template or a measure – an individual identification. And then, they scan the subsequent bone marrow samples against that to see if there’s any sequence that matches that original one, and that’s the way you can detect one in a million positive cells, if there are any. 

How Is Minimal Residual Disease (MRD) Testing Used in Myeloma Care?

How Is Minimal Residual Disease (MRD) Testing Used in Myeloma Care? from Patient Empowerment Network on Vimeo.

Myeloma expert Dr. Nina Shah explains minimal residual disease (MRD) and how the results of this test may impact patient care and treatment.

Dr. Nina Shah is Associate Professor of Medicine in the Fepartment of Medicine at the University of California San Francisco (UCSF) and treats patients at the Hematology and Blood and Marrow Transplant Clinic at UCSF Helen Diller Family Comprehensive Cancer Center. Learn more about Dr. Shah, here.

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Transcript:

Katherine Banwell:

What is minimal residual disease testing, and when should it take place?

Dr. Shah:

Minimal residual disease is exactly what it sounds like. It’s the disease that you can’t see under the microscope, but it’s still there.

And I sort of equate it to the little deep food particles that are in a pot after you clean it and really, really scrub it, but still, something is in there. And that’s what it is for myeloma. And really, that depends on how sensitive your test is. We now know we can test for at least one in a million cells by some advanced techniques, and we like to test to see if there’s any disease left after certain treatments are done – for example, after a patient undergoes an autologous stem cell transplant.

Katherine Banwell:

What impact do results have on care decisions?

Dr. Shah:

Minimal residual disease testing can be useful for patients to understand the true burden of their disease. For example, it may be that there’s no more M-protein in the blood, or the light chains are normal, or even the bone marrow showed no plasma cells. But the minimal residual disease testing may show that, in fact, there are a few cells still in there, and that can help patients to decide, “Yes, I want proceed with maintenance therapy,” for example, or “No, I would not like to.” Although, we generally recommend it, patients like to have as much information as possible to make their decisions. 

How Are Cytogenetics Used in Myeloma Care?

How Are Cytogenetics Used in Myeloma Care? from Patient Empowerment Network on Vimeo.

Myeloma expert, Dr. Nina Shah, explains cytogenetics and how results of these tests affect care and treatment for myeloma patients.

Dr. Nina Shah is Associate Professor of Medicine in the Fepartment of Medicine at the University of California San Francisco (UCSF) and treats patients at the Hematology and Blood and Marrow Transplant Clinic at UCSF Helen Diller Family Comprehensive Cancer Center. Learn more about Dr. Shah, here.

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Transcript:

Katherine Banwell:

What is cytogenetics, and how is it used in myeloma patient care?

Dr. Shah:

We use the term cytogenetics and FISH sort of interchangeably, and really what it is, is the DNA characteristics of the bad plasma cells. So, the myeloma cells, and a lot of them may have changes in their DNA that are what we call clonal, meaning that they’re in a significant percentage of those cancer cells, or they might be non-clonal, which are less significant. But it’s the way the DNA is put together or maybe cut and pasted so that it changes the characteristics and maybe the aggressiveness of the disease.

Katherine Banwell:

What is the goal of this in-depth testing? Are there specific markers you’re looking for?

Dr. Shah:

When we look for things like cytogenetics and send FISH testing, we look to see if patients have changes that might make their disease may be more aggressive.

For example, it may cause their plasma cells, the myeloma cells, to grow faster or more aggressively. So, we look for changes that might, for example, have a deletion of a certain chain that puts the brakes on tumors, or it may have a translocation, which is when the chains sort of do-si-do together and that makes the cells grow faster. 

How Does Myeloma Testing Affect Care and Treatment?

How Does Myeloma Testing Affect Care and Treatment? from Patient Empowerment Network on Vimeo.

What is cytogenetic testing in myeloma? Donna Catamero, a nurse practitioner specializing in myeloma, describes this in-depth testing, including the FISH test, and how the results impact the care of patients.

Donna Catamero is Associate Director of Myeloma Translational Research at Icahn School of Medicine at Mount Sinai Hospital in New York City.

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Transcript:

Katherine:

Blood and urine tests, bone marrow biopsy and imaging tests are all standard following a myeloma diagnosis, but what about more in-depth testing?

Because the terminology around biomarker testing varies, can you help break this down for patients, and how this in-depth testing is referred to in myeloma?

Donna:

So, biomarkers is a term that is commonly tossed around in many different cancer diagnoses and it means different things. But in general, it’s characteristics that can inform us about a diagnosis, about a patient’s prognosis and about their response to treatment. So, this can include things that we measure in the bloodwork, in the urine, even imaging. These are all things or markers that we look at to determine a patient’s either, like I said, response or risk stratification.

Katherine:

What about cytogenetics? What is that exactly and does that fit under the umbrella of biomarker testing?

Donna:

Yeah, so cytogenetics is a genetic snapshot of a patient’s cancer. So, it will give us a sense of how the disease will – the characteristics of how it will behave. But again, it’s just a snapshot and it’s not a precise science but certain mutations or certain genes will kind of inform us like “This might be maybe a more aggressive form and we need to do X, Y and Z.”

Katherine:

Which of these more in-depth tests are necessary in myeloma? Let’s start with the FISH test.

Donna:

So, FISH is a cytogenetic technique. So, what we do is, when we do the bone marrow, we send that off and we look at the genetics. Like I said, it’s a snapshot. And certain mutations will put patients in different risk stratifications, so we normally do this at the time of diagnosis and then with each relapse.

Katherine:

It seems that all of the test results can aid in determining outpatient’s risk. So, why is risk stratification so important?

Donna:

So, risk stratification is important.

It will give us a sense of how a patient might respond to certain treatments. Maybe a patient won’t respond as well to a stem cell transplant as someone with standard risk. So, we take this into account, but in this current time, in 2021, we don’t typically change our treatments according to risk. That’s why clinical research is very important because we’re studying right now patients with high-risk cytogenetics, do they do they better on certain therapies.

Katherine:

How do the results of these tests affect treatment choice and prognosis?

Donna:

So, someone who might have high-risk cytogenetics, we might want to be maybe more aggressive with our therapy. So, we might change how we want to maintain a patient. Usually, after a stem cell transplant, we give patients maintenance therapies. So, patients who have high-risk disease, we might change our strategy and have a more aggressive regimen in that maintenance setting. And with patients with higher risk, we probably will monitor them very, very closely in case – looking for signs for relapse.