Diagnosing MDS, with Dr. Joshua Zeidner | Aplastic Anemia and MDS International Foundation (AAMDSIF) Return to top.

Diagnosing MDS, with Dr. Joshua Zeidner

Dr. Joshua Zeidner explains why it is critical for patients to receive an accurate diagnosis for MDS, or Myelodysplastic Syndromes. He describes the steps to determine the presence of the disease, and also discusses some of the treatments available.


Leigh Clark:    Hi everyone. This is Podcast for Patients with the Aplastic Anemia and MDS International Foundation. I'm Leigh Clark, Director of Patient Services, and I'll be moderating the podcast today. Our podcast series is brought to you with special thanks to our generous donors, which are patients, families and caregivers like you, and our corporate sponsors. Thank you to everyone for supporting the series.

[00:00:30]    Today, we're talking about MDS and the importance of getting the right diagnosis with Dr. Joshua Zeidner, from the University of North Carolina, Lineberger Comprehensive Cancer Center. Welcome, Dr. Zeidner.

Joshua Zeidner:    Oh, it's my pleasure. Thanks for having me.

Leigh Clark:    What is MDS?

Joshua Zeidner:
[00:01:00]    Yeah, so, MDS is otherwise known as myelodysplastic syndrome. And MDS is a bone marrow cancer. I like to tell patients that the bone marrow is an organ in the body, just like the heart and lungs. The bone marrow has a specific function and the primary function of the bone marrow is to be the factory that produces the blood cells in the body. So the bone marrow is responsible for, uh, producing white blood cells, red blood cells and platelets.

[00:01:30]    And when these cells are produced and divided, um, mistakes happen all the time. The vast majority of these mistakes are actually caught by the immune system and don't replicate. But, sometimes, mutations and other abnormalities occur at very early cells that eventually lead to the production of these white blood cells, red blood cells and platelets, and these mistakes occur and render the bone marrow dysfunctional. Uh, the bone marrow then, is not able to produce, um, a normal white blood cells, red blood cells and/or platelets.

[00:02:30]    Most patients with myelodysplastic syndrome, or MDS, uh, present with, um, bone marrow suppression. They present with low blood counts. Uh, sometimes anemia, sometimes a low white blood cell count, or sometimes a low platelet count. Sometimes patients can present with all three blood count abnormalities. Um, and, and the staging and prognosis of this cancer is very heterogeneous. So, it's really important for us to get all of the information, in order to, uh, determine a, a treatment and prognosis plan.

Leigh Clark:    Thank you. What tests are used to determine the diagnosis of MDS? How do physicians get the diagnosis of MDS?

Joshua Zeidner:

[00:03:00]    Yeah. MDS is really diagnosed by a bone marrow biopsy. Uh, bone marrow biopsy is a procedure where we look at the cells under the microscope, uh, from the bone marrow. That typically requires what's called an aspirate as well as a biopsy. An aspirate is looking at the liquid portion of the bone, uh, where all the cells are produced and divided.

In order to, make a diagnosis of MDS, there needs to be abnormalities that are seen under the microscope, of those cells in the bone marrow. And most of these patients actually that are diagnosed with MDS, have what we call clonal abnormalities that we can identify by really innovative methods, such as a chromosomal analysis or mutations that the MDS may, um, acquire that really help us in making a diagnosis of MDS.

[00:04:00]    So, it really requires that bone marrow biopsy, and a multifaceted pathology, uh, uh, specialty group to really, make the diagnosis and identify all the abnormalities present at diagnosis.

Leigh Clark:    Thank you. Why is MDS often misdiagnosed or missed and diagnosed as something else?

Joshua Zeidner:

[00:04:30]    Well, MDS is a disease of the elderly. The average age of MDS in the United States is about 70 years. Um, and, and it is rarely seen in people younger than 50 to 55 years. So, we do see it across all age groups, but the vast majority of patients, at least in the United States are really 60 to 60 years and over, um, that are diagnosed with this disease.

 The disease is so heterogeneous. So, sometimes people can present with just very mild blood count abnormalities. Sometimes that can just be a mild anemia for instance. And that may not prompt a primary care physician to undergo a further workup or even a referral in some cases to a hematologist or oncologist for, um, for diagnostic information.

So I would say, you know, the disease can be missed by assumed, uh, some of the blood count abnormalities is not MDS. Um, I'll also say that even when a bone marrow biopsy is performed, which is really the gold standard way of diagnosing this cancer, um, sometimes, uh, we need to have more than one bone marrow biopsy to make the diagnosis, because the abnormalities can be very subtle and sometimes can be even hidden, on one bone marrow biopsy and, and so, sometimes patients require more than one, to make the diagnosis.

    Just not seeing the MDS cells on one bone marrow biopsy, does not necessarily mean that the patient, for instance, doesn't have MDS. And really, more rigorous,  evaluation may be needed.

Leigh Clark:
[00:06:00]    Thank you. Should patients seek a second opinion if they're diagnosed with MDS and if so, why?

Joshua Zeidner:    Yeah, so, I'm always, um, very supportive of second opinions, particularly for cancers like MDS where treatments may not necessarily need to be initiated urgently or emergently, to give, you know, patient's the appropriate time to gather all of the information.

Most times in MDS, not all cases, but most times, there is at least, um, not an emergency to start treatment. So I am very, um, supportive of seeking either second opinions or an opinion in a s- sub-specialty center like an academic medical center where there may be more expertise in MDS.

The reason is really two-fold. One is, um, we've really, developed a much more advanced understanding of the biology of MDS over the past five to 10 years and we know that there are certain abnormalities, certain mutations that make the MDS more or less favorable. Some of these mutations may make the MDS more aggressive and may change the way we think about the disease or even treat the disease.

    And these are all data that are, you know, evolving, um, really year to year, um, with lots of changes to this disease. So, I think it's really important to get all of the information about the cancer before embarking on a treatment plan.

And the second reason to seek a second opinion, is that our treatments are really evolving this cancer. In the higher risk stages of MDS, our treatments haven't changed. The standard of care really hasn't changed in, in 20 years. Um, it continues to be what we call a class of drugs called hypomenthylated agents. There are numerous clinical trials that are ongoing in this cancer that are exploring new ways to treat this cancer, which we hope will make a big impact in patient care.

    And I think it's really vital for patients to have all of those options available --- many times a clinical trial might be the best option, for instance, to, to treat a patient with MDS. So, I think having the right diagnosis, the right information, and the, all the treatments available, and accessible for patients is really critical when people are diagnosed with this cancer.

Leigh Clark:    
Thank you. Dr. Zeidner, you mentioned about clinical trials. If a physician recommends a clinical trial, what does that mean? Does that mean there's no options for that patient other than a clinical trial? How are clinical trials used in, treating MDS beyond it being a last resort for a patient?

Joshua Zeidner:
Yeah, it's a great question. Clinical trials come in so many different flavors. So, at, at the, at the development of an agent, when a new drug is discovered and developed for an individual cancer, the first studies that are done, are what's called Phase I studies where we first determine whether a drug or an agent is safe and able to be administered to a person with a specific type of cancer.

Many of the early Phase I studies are done in a patient population where there are really no other treatments available. Um, we wouldn't be studying a new drug for the first time for instance, in a patient, if there are other more effective treatments that are available outside of clinical trials.

So, those early phase studies are really, really important. But, those are usually done at the later stages of a cancer. In contrast, um, as drugs get studied and developed in cancers like MDS, many times an exciting agent that we know is already safe and may be potentially effective, is being studied in earlier stages of the cancer. Sometimes, even in combination with the standard, effective chemotherapy drug.

 So, there may be clinical trials when a patient is first diagnosed with MDS, where they may be able to get the standard, approved, FDA approved, effective therapy plus another agent that might provide the better option for, uh, the treatment of their cancer. Sometimes there are even randomized clinical trials, where half a group of patients get one treatment. Let's say maybe a standard of care treatment that's FDA approved, and half the patients may be randomized to an experimental choice, which sometimes, might also involve the standard, effective agent, plus an experimental or investigational agent.

So it's hard to put clinical trials all in one bucket. As a clinical investigator in both MDS and AML, we have clinical trials that are available both in the first line setting, meaning for the first treatment for an individual cancer and also, as a last resort, when they've really exceeded all of the treatments that are available, uh, and known to be effective.

 So clinical trials are important, uh, through the gamut of, and the facet of patient's disease, um, in all in all stages of their disease.

Leigh Clark:    
Thank you so much, Dr. Zeidner for sharing your time and your expertise with all of us today. You can find out more about MDS and other bone marrow failure diseases on our website, at AAMDS.org, by following us on Facebook, Instagram and Twitter. Or you can give us a call at our help line, at 800-747-2820.

This concludes our podcast. Thank you so much, Dr. Zeidner.

Joshua Zeidner:    It's my pleasure. Thank you for having me.