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Myelodysplastic Syndromes

Myelodysplastic Syndromes Screening and Diagnosis

Myelodysplastic syndromes (MDS) can be difficult to diagnose. People often have no symptoms of MDS cancer , or their symptoms are attributed to another illness or condition. Proper diagnosis is crucial and is most often made by a hematologist with advanced knowledge of myelodysplastic syndromes.

How are myelodysplastic syndromes diagnosed?

To diagnose for myelodysplasia, your doctor takes 2 types of bone marrow samples:

  • A bone marrow biopsy removes a small piece of bone along with the marrow inside the bone
  • A bone marrow aspirate draws out a sample of liquid from the bone marrow space

Your doctor may perform a variety of tests on the samples. A hematologist will also look at your blood and bone marrow under a microscope to look for abnormal cell shapes and sizes – additional indicators of MDS. Blood tests can also check the number of red blood cells, white blood cells and platelets in your blood, and whether the cells have changed in size or shape.

Other tests your doctor may perform include chromosome analysis, flow cytometry studies to look at the way your blood cells are developing, or molecular genetic studies to determine the specific genetic traits of your bone marrow cells.

To determine the type of MDS cancer, your doctor looks at several factors:

  • Blood cell counts
  • How many blood cells look abnormal in their earliest forming stages within the bone marrow (also known as dysplasia)
  • Whether there’s a lower number of mature blood cells than normal (cytopenia)
  • How many early red blood cells have an iron deposit ring around the nucleus (these are called ring sideroblasts)
  • The percentage of very early blood cells (known as blasts) that are present in the bone marrow
  • Certain chromosome changes at the cellular level in the bone marrow
  • The risk that MDS could turn into leukemia

Myelodysplasia is also classified as either primary MDS or secondary MDS. It is staged according to a special assessment system known as an IPSS-R score. From there, MDS cancer is classified according to the system developed by the World Health Organization (WHO), which recognizes 7 main subtypes of MDS cancer:

  • Refractory anemia 
  • Refractory anemia with ringed sideroblasts 
  • Refractory cytopenia with multilineage dysplasia 
  • Refractory cytopenia with multilineage dysplasia and ringed sideroblasts
  • Refractory anemia with excess blasts
  • Myelodysplastic syndrome, unclassified
  • MDS associated with isolated del(5q)

Additionally, WHO labels chronic myelomonocytic leukemia and juvenile myelomonocytic leukemia as “mixed” diseases that have characteristics of MDS as well as other blood cancers.

Classifying myelodysplasia helps doctors give an accurate diagnosis to better plan for your MDS cancer treatment.

Medical oncologist Abdulraheem Yacoub, MD, discusses myeloproliferative neoplasms, a group of blood diseases involving the bone marrow. Ms. Marti Uden, a patient and survivor, shares her experience.

Speaker 1:                    Welcome to Bench to Bedside, a weekly series of live conversations about recent advances in cancer from the research bench to treatment at the patient's bedside. And now your host and the Director of the University of Kansas Cancer Center, Dr. Roy Jensen.

Dr. Roy Jensen:             Good morning, I'm Dr. Roy Jensen Director of the University of Kansas Cancer Center.

                                    A simple blood test is often all it takes to detect a rare group of serious blood diseases involving the bone marrow called myeloproliferative neoplasms, or MPNs. MPNs are blood cancers that occur when the body makes too many white or red blood cells, or platelets, which can cause problems for blood flow and lead to many different types of symptoms.

                                    Here to help us understand better this story on Bench to Bedside is Dr. Abdulraheem Yacoub a medical oncologist who focuses on hematologic malignancies and cellular therapeutics. And we're also pleased to welcome Mrs. Marti Uden, a patient and survivor who will share some of her experiences. I want to thank both of you for being here.

Dr. Yacoub:                   Thank you very much.

Dr. Roy Jensen:             I especially want to thank Marti, who I got to meet a few months ago in our phase I celebration. And you gave such an incredible talk at that event, and we're so anxious to share your story now on Bench to Bedside, but thank you very much for being here.

                                    We're going to start off with Dr. Yacoub and maybe could you tell us a little bit more about this disease?

Dr. Yacoub:                   Absolutely. Thank you Roy for giving us the opportunity to discuss these diseases. Myeloproliferative neoplasms or, in short, MPNs are a group of uncommon blood cancers. They are uncommon or rare in terms of incidence of new cases, however, since patients lived with them for decades at a time they are pretty prevalent in patients who live with cancer and cancer survivors. They are a group of blood cancers, which means they originate from the blood marrow and they result in manifestations by excessive production of blood elements: red cells, platelets, white cells, and scar tissue, and chemicals which result in a significant disadvantage and health hazard to the patients who have them, in addition to progression as a cancer.

                                    There are multiple different unique syndromes, or unique diseases in the MPN family such as essential thrombocytosis or ET, polycythemia vera or PV, and primary myelofibrosis, in addition to chronic myeloid leukemia or CML and systemic mastocytosis, There's multiple other members of that family. They share a lot in common in terms of the manifestations and the biology behind the cancers, and how they occur, but each one of them has a unique story and unique features, and patients behave differently, we have different expectations accordingly.

Dr. Roy Jensen:             What are some of the signs and symptoms of MPN?

Dr. Yacoub:                   This group of cancers include a pretty diverse cohort of patients with each of them having a unique story, but there are common symptoms that all these patients have. Patients can have significant symptoms because of excessive blood production, or eventually the lack of blood production as the bone marrow becomes more tired and more advanced. Symptoms of increased blood production can result in increased blood viscosity and complications of clotting or bleeding. The clotting can be a stroke, or a heart attack, or a clot anywhere in the venous system in the body. And bleeding can occur because of the malfunctioning of the blood elements. And infections can occur at a higher rate in patients who don't produce enough functioning white cells.

                                    In addition to the symptoms because of the blood patients who have myeloproliferative neoplasms have significant constitutional symptoms and cancer related symptoms that are unique to these diseases unlike any other cancer. Patients have increased symptoms of fatigue, the kind of cancer fatigue that doesn't respond to just a good nap, or a good sleep. They also have symptoms of fever and night sweats, and itching. They could have symptoms of bone pain and extremity pain. As the disease progresses and patients occasionally develop an enlarged spleen, which can result in abdominal discomfort, sometimes this would interfere with nutrition and patients would lose substantial weight because of that and they fail to thrive.

                                    And some unfortunate patients would progress to where the disease can transform into a higher risk cancer like acute leukemia and after that it would accelerate and they require more urgent therapy that can affect their life immediately.

Dr. Roy Jensen:             Marti, do these signs and symptoms sound like your experience?

Marti Uden:                  Yes. About 10 years ago my internist noticed that I had ever decreasing platelets. I also was anemic, I began to bruise a lot, I would have massive bloodshot eyes, they'd stay for several weeks, and go away and then I'd get them again. I had shortness of breath and was tired. And my doctor said, "Okay, now is the time for us to find out what's going on." We had a family friend that was at Northwestern in Chicago, and so we went to see him and after tests and a bone marrow biopsy he determined that I had myelofibrosis, so I said, "What'll we do now?" And he said, "I want you to go back to the KU Cancer Center, that's the very best place for you to be right now. And there is a doctor there that is researching myelofibrosis, and I want you to go with him."

Dr. Roy Jensen:             Dr. Yacoub, what are the common challenges that face patients with MPN?

Dr. Yacoub:                   Well, patients with MPN in addition to having to deal with a cancer that is immediately life-threatening, they also have to deal with a chronic disease, a chronic disability because of the heavy burden of symptoms. Even if the blood numbers are continuing to be in a functional range, or an adequate range they still have a significant amount of symptoms that could be a disability to their functioning lives. Those are patients who have jobs to do and families to take care of and grandkids to go to graduation parties for.

                                    The recognition of the need to treat the cancer and treat the symptoms is often missed by many oncologists who don't treat similar cancers, so addressing the chronic quality of life problem, along with treating the cancer is definitely a challenge unless the patient's been treated by an expert in this condition.

                                    And that brings the second problem which is access, because these are uncommon diseases and few oncologists have had enough experience, have had enough interest in treating those patients, and patients sometimes have to travel to meet with a physician who's interested in the particular disease. And this access problem is definitely a challenge when patients are not meeting their needs.

Dr. Roy Jensen:             Well thanks for that.

                                    If you're just joining us on Bench to Bedside, we're talking with Dr. Yacoub and Mrs. Uden, an expert in myeloproliferative neoplasms, which are a group of blood diseases. And joining us in the studio is Cameron Poindexter to monitor your questions posted in the comments section. Remember to share this link with people you think might benefit from our discussion, use the #benchtobedside.

                                    Marti, could you tell us about the experience that you had once you came to the Cancer Center, and tell us about how similar your journey was to what Dr. Yacoub described?

Marti Uden:                  It was a whirlwind, it has been for the last five years. We've experienced the oncology floor at the hospital, we've experienced the ER, the ICU, the clinical research center. Every place we have gone by far I have been treated with excellent, excellent support and care. I can't say enough about the KU Cancer Center. And then there's Dr. Yacoub, and Dr. Yacoub is always enthusiastic, always looking forward to how he can help me, and he's contagious. And it's easy to trust him, and I think that's one of the most important things when you're on this kind of a journey that you have to trust your doctor. And the second thing is that you have to have hope and Dr. Yacoub gives me that hope every time I see him.

                                    And two years ago when I was kind of at the bottom of the mountain he suggested that I start in a trial, and the drug didn't have a name at the time. It was only a number and I was 1 of 16 on that tier of that study. And now that study does have a name, I don't know what it is, but it has a name, and it is in the European market and in the US market. I go to the center for research, a clinical center to receive that drug every 42 days, and they are wonderful over there. In fact, we look forward to seeing Dr. Yacoub and that staff every 42 days because they feel like they're part of our family.

                                    And when I talk to people that may be beginning their journey with cancer I say to them, "You need to go to the KU Med Center, and the KU Cancer Center and get a second opinion."

Dr. Roy Jensen:             Well, you're certainly very popular over there as well, which I found out at our phase I celebration event a few months ago. The staff just loves you and it was great that you could bring your family, and we could meet all of them.

                                    Dr. Yacoub what are the recent advances in diagnosing and treating this disease?

Dr. Yacoub:                   Myeloproliferative neoplasms or cancers are one of the more ancient diseases. They were described over a hundred years ago, but almost everything that we know about them and everything that is worth talking about has only been discovered in the last 15 years. Now, we have identified the driver mutations that actually cause the cancer and we can find one of those mutations in at least 90% of our patients where we can explain to them exactly why their cancer happened. The diagnostic precision has improved substantially given the knowledge we have acquired.

                                    In addition, we have a lot of more ways to predict how patients will behave clinically, or prognosticate their future based on incorporating their health factors, their clinical factors, their lab factors, and their DNA mutations into trying to get our patients a more realistic expectation of how their life is going to be and how is their cancer is going to change or not change. Our ability to provide that precision also has improved substantially.

                                    In terms of treatment, there was not a single drug that is approved for this disease, and the first drug that was approved for those diseases is under 10 years old now, so in terms of providing more tools and options to help our patients we have had drugs approved that help patients, and they help symptoms, and they prolong lives. The pipeline of clinical trials has been very robust and we've been able to provide more experimental tools, just like the option Marti has been receiving, which has improved patient's health and improved outcomes and, hopefully in the future, will provide more tools for us to help other patients, so this has been a wonderful experience to be part of.

                                    We also have expanded the use of stem cell transplant in trying to provide more curative therapy. In the last few years we're able to provide this curative therapy to many of our patients and we can offer them an opportunity to live cancer free and long lives in good health with a curative therapy. It's been a very expedited and exciting journey just for the last 15 years of how mass explosion of knowledge and tools we have at our hands at this time.

                                    I'm proud to say that we have had a clinical trial option for every single patient whichever their presentation was during the last few years. We can give patients what is available right now, and what could be a future option for them already, so I'm proud to state that and give my patients these options.

Dr. Roy Jensen:             MPN is an extraordinarily rare disease, and how does that impact an individual patient's care and treatment?

Dr. Yacoub:                   It's definitely impactful because it is unlikely that one cancer center or one doctor would have enough knowledge and tools to provide the best care, and to advance the science. To circumvent this problem we have to resort to building relationships with colleagues and partners nationwide and worldwide, so I'm glad that the University of Kansas is a leader and a founding member of the largest national consortium, MPN Research Consortium, which is a group of physicians and institutions that are committed to researching MPNs. The funding is provided by the National Institute of Health and the National Cancer Institute. The University of Kansas being an NCI Cancer Center has absolutely been very fruitful in that.

                                    As part of this consortium we're able to add all the expertise and all our skills, and provide more structure to research to advance the science to help more patients. This has been very fruitful, and we've had multiple advances that we contributed to the field through that consortium.

Dr. Roy Jensen:             Cameron, I understand we have a question from our audience?

Cameron P.:                 Yes we do. We do have a question, and the question is, "What are treatment options for MPNS and is immunotherapy an option?"

Dr. Yacoub:                   Immune therapy is a term that means a lot of things. The beginning of immune therapies has started with immune therapies has started with interferon. And interferon is a natural hormone that the immune cells produced to fight infections, and we've use them over the years to treat infections, and then to treat cancers. And we've cured some cancers with interferons including blood cancers and cell tumors. And interferons are now being used in myeloproliferative neoplasms. Actually, we were part of the largest trial in the world to implement and investigate interferons as an immune therapy in patients with cancer and, particularly, in patients with early phases of myeloproliferative neoplasms. And the results were as excellent as we all expected. And some of these results have resulted in approvals of some of those interferons in Europe, and we're still waiting on US approval for that.

                                    The more understanding of immune therapies including recent antibodies or checkpoint inhibitors, as well as CAR T-cell therapy, those have not yet been successfully investigated in myeloproliferative neoplasms, as well as in other diseases, so we don't yet have an application for that in these diseases.

Dr. Roy Jensen:             Marti, we've covered a lot of information today. What advice would you give our audience based on your experience?

Marti Uden:                  First of all, I would say that it's real important to find a doctor that you trust, a doctor that encourages you along the way, and tries new things. And I know that hope, I mentioned that before, hope is so important and Dr. Yacoub has given me that hope and that has helped me to live longer, and most of all to live better.

                                    And second of all, I think it's real important to find a place like the KU Cancer Center that believes in research and believes in patient support and advocacy. Without that kind of progressive environment I really don't think I'd be sitting here today.

Dr. Roy Jensen:             Well, in large part we have to think the voters of Johnson County who decided to fund the [J-CERT 00:19:49] initiative, which allowed us to build our clinical trial facility in Fairway, and it's made all of this possible.

Dr. Yacoub:                   And thank you Marti for allowing us to be part of your journey, and allowing us to help. It's been our pleasure and our honor to be part of your team.

                                    We also have been very much invested in patient advocacy through our partnership with the Leukemia/Lymphoma Society and we have had consistently, every year two semiannual events where we invite patients and their families to spend time with us, and talk about the disease. We invite speakers, we invite patients to speak, we invite experts to speak. And soon we're going to have our 10th regular patient symposium to spread the knowledge for patients, and it's an open invitation for patients with myeloproliferative neoplasms. And it's been extremely rewarding to us and to the patients who've experienced it.

Dr. Roy Jensen:             Any summary thoughts on MPNs before we wrap up this morning?

Dr. Yacoub:                   Yeah, so again, in the big scheme of oncology this represents a small section of those cancers, but for the patients who have it it's all they have and it is the most important health problem, and the most important diagnoses one would have. I advocate for patients to seek opinions, I advocate them to try something else.

                                    There's so many online resources, there's online registries, so you can help yourself, but also help advance the knowledge and the science by being proactive, seeking help, seeking second opinions, and seeking online resources through the Leukemia/Lymphoma Society and the MPNRC and the MPN Research Foundation. There's a lot of good sites to seek information from. The University of Kansas Cancer Center also has a patient library where some of this material can be made available.

                                    I think we need to start educating patients and let them take charge of their health and seek the best care they can get.

Dr. Roy Jensen:             Well, thank you so much Dr. Yacoub. And thank you Marti, it's been a pleasure having you on and I, certainly, enjoyed hearing your story at our event back a few months ago.

                                    Well, that's it for today. For more information on myeloproliferative neoplasms please visit We hope you'll join us next week Wednesday at 10 AM. Thanks for watching.


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