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Myelodysplasia is not a single disease, but rather a group of disorders characterized by an inability to produce enough healthy mature blood cells. These disorders are also commonly called myelodysplastic syndromes, or MDS. In addition to causing problems such as anemia, the presence of myelodysplasia is sometimes considered a premalignant condition because a significant number of patients with it develop leukemia. Therefore, early diagnosis and treatment of myelodysplasia may prevent such an outcome.
  • City of Hope physicians and researchers continue to lead the way in improving diagnosis, treatments and outcomes in patients with myelodysplasia. City of Hope’s strategies address myelodysplasia using sophisticated genetic markers that aid in both diagnosis and treatment, advanced chemotherapy protocols using experimental drugs, and our nationally-recognized stem cell transplantation program, which specializes in “mini” hematopoietic cell transplants, allowing for transplantation in older myelodysplasia patients.
  • Our patients are cared for by a multidisciplinary team of professionals, including hematologists and oncologists, radiation oncologists, nurses, supportive care specialists, dieticians, therapists, social workers, psychiatrists, psychologists and pharmacists. Each member of the team focuses on individual treatment plans designed to extend life, as well as supportive care to improve the quality of life for patients and their families during the treatment period.
  • City of Hope’s Clinical and Translational Research Program has had continuous funding for the Hematopoietic Cell Transplantation (HCT)  Program by the National Cancer Institute since 1981. The MDS Foundation recognized City of Hope as a Center of Excellence for MDS in 1998 in recognition of the program’s basic and clinical research – one of only 34 hospitals worldwide to receive this designation.

About Myelodysplasia

Myelodysplasia refers to a set of syndromes (also called myelodysplastic syndromes, or MDS) in which the normal process of making mature blood cells (red blood cells, white blood cells, and platelets) – known as hematopoiesis – is impaired. Hematopoiesis begins with a hematopoietic stem cell (HSC) present in the bone marrow. The HSC is capable of differentiating into two more specialized stem cells: lymphoid stem cells and myeloid stem cells. Lymphoid stem cells differentiate into a type of white blood cell called a lymphocyte, while myeloid stem cells can differentiate into red blood cells, platelets, and a group of white blood cells called granulocytes and monocytes.


In myelodysplasia, the stem cells do not differentiate completely; they remain as immature “blast cells” instead of maturing into normal red blood cells, white blood cells and platelets. This results in a disproportionately low number of healthy mature blood cells, a condition known as cytopenia. When there is a shortage of red blood cells, this is called anemia. The corresponding deficiencies in the other cell types are called leukocytopenia (white blood cells) and thrombocytopenia (platelets). Each of these deficiencies is associated with a host of health problems such as bleeding (caused by low platelet counts) and infection (due to low white blood cell counts).

Besides the effects caused by a deficiency of normal blood cells, myelodysplasia often produces increased numbers of immature blast cells in the bone marrow. The accumulation of excess blast cells may result in some of the blasts becoming abnormal (their morphology, or form, is defective). This process is known as malignant transformation, and leads to leukemia. Hence, myelodysplasia is often considered to be a premalignant, or preleukemic condition, necessitating careful monitoring and intervention.

Types of Myelodysplasia

There are many different types of myelodysplastic syndromes, or MDS. These include:

  • Refractory anemia (RA)
    RA means a shortage of red blood cells that does not respond to conventional anemia treatment. In RA, only a low red cell count is apparent, and both white blood cell and platelet counts are normal. The clinical course of this disease is prolonged, and very rarely transforms into leukemia.
  • Refractory anemia with ringed sideroblasts (RARS)
    RARS is identical to RA, except for the distinction that 15 percent of the red blood cells are abnormal cells called ringed sideroblasts. A sideroblast is a red blood cell that contains iron deposits. As with RA, RARS has a protracted clinical course and rarely progresses to leukemia.
  • Refractory anemia with excess blasts (RAEB)
    In RAEB, myeloblasts account for 5 to 19 percent of the cells in the bone marrow, but the number of blasts in the peripheral blood is normal. There may be changes to the white blood cells and platelets. RAEB may progress to acute myeloid leukemia (AML); the higher the number of blasts, the shorter the clinical course of the disease and the higher the likelihood of transformation to AML.
  • Refractory anemia with excess blasts in transformation (RAEB-t)
    In RAEB-t, in addition to anemia (low red cell count), there is also a shortage of white blood cells and platelets. Here, these shortages are caused by the over-proliferation of blast cells. Some experts don’t even think RAEB-t should exist as a category, and consider it to actually be a form of AML.
  • Refractory cytopenia with multilineage dysplasia (RCMD)
    Here, there is a cytopenia (shortage of cells) of at least two members of the myeloid cell line (which comprises red blood cells, granulocyte-type white blood cells, and platelets) – hence the term “multilineage” – and they are dysplastic, or abnormal. Only a small percentage of RCMD cases progress to AML.
  • Myelodysplastic syndrome associated with an isolated del(5q) chromosome abnormality
    In this MDS, also called “5q-,”patients are anemic, and there is what is known as a deletion abnormality on the “long arm” of chromosome 5 (the short end of a chromosome is called “p” and the long end, “q”). This subtype is associated with a long survival.
  • Unclassifiable myelodysplastic syndrome (MDS-U)
    WITH MDS-U, there is a shortage of at least one type of blood cell, and the number of blasts in both bone marrow and blood is normal. However, it cannot fit into any of the other classifications set forth above for MDS.
  • De novo myelodysplastic syndrome
    The term “de novo” just means “from new” in Latin, meaning the disease just seems to show up out of the blue with no known cause.
  • Secondary myelodysplastic syndrome
    This type of MDS is secondary to (meaning that it occurs as a consequence of) certain environmental factors such as exposure to the following:
    • Tobacco smoke
    • Ionizing radiation
    • Organic chemicals (e.g., benzene, toluene, xylene and chloramphenicol)
    • Heavy metals
    • Herbicides
    • Pesticides
    • Fertilizers
    • Stone and cereal dusts
    • Exhaust gases
    • Nitro-organic explosives
    • Petroleum and diesel derivatives
    • Alkylating agents (often used in cancer chemotherapy)
    • Marrow-damaging agents used in cancer chemotherapy
  • Previously treated myelodysplastic syndrome
    Previously treated MDS are de novo or secondary cases of MDS that have progressed despite previous treatment and, in many cases, are receiving additional treatment.
Myelodysplastic Risk Factors
Although many cases of myelodysplastic syndromes, or MDS, have no known cause, the following are commonly-accepted risk factors:
  • Age over 60 years (although pediatric cases do occur, especially after previous chemotherapy)
  • Being male and white
  • Past treatment with chemotherapy or radiation therapy
  • Exposure to certain chemicals, including tobacco smoke, pesticides, heavy metals such as mercury or lead, and solvents such as benzene. A more complete list of these environmental agents can be viewed above.
Myelodysplastic Symptoms
Myelodysplastic syndromes often do not cause early symptoms and are sometimes found during a routine blood test. Although the symptoms below may be indicative of myelodysplasia, other conditions may cause the same symptoms. A doctor should be consulted if any of the following problems occur:
  • Shortness of breath
  • Weakness or feeling tired
  • Pallor (pale skin)
  • Easy bruising or bleeding
  • Petechiae (flat, pinpoint spots under the skin caused by bleeding)
  • Fever or frequent infections
  • Splenomegaly (enlargement of the spleen)

How We Diagnose Myelodysplasia

Since myelodysplastic syndromes, or MDS, are diseases of blood and bone marrow, careful analysis of both is critical. City of Hope may do the following tests:

Complete Blood Count (CBC)
The CBC often provides the first signs that a patient has MDS by revealing unusually low levels of certain types of blood cells. A CBC measures the following:

  • The number of red blood cells and platelets
  • The number and type of white blood cells
  • The amount of hemoglobin (the protein that carries oxygen) in the red blood cells
  • The portion of the blood sample made up of red blood cells (called the hematocrit)

Peripheral blood smear
This is a procedure in which a sample of blood is checked for changes in the number, type, shape and size of blood cells, and for too much iron in the red blood cells.

Bone Marrow Aspiration and Biopsy
Knowing how many blasts are in the bone marrow is important to accurately diagnose the type of MDS the patient has. Therefore, a bone marrow aspirate and biopsy are necessary. For this procedure, a needle is inserted into the hipbone or sternum to obtain a small piece of bone and sample of bone marrow, which are then analyzed under the microscope.

Cytogenetic Studies
In cytogenetic studies, the bone marrow cells are examined for specific chromosomal abnormalities. The presence or absence of these markers can serve as a guide to prognosis and treatment.
While establishing a diagnosis of myelodysplasia, doctors need to determine its stage, meaning how advanced the disease has become. This helps in determining prognosis and in treatment planning.

Myelodysplasia Treatment Approaches

Myelodysplasia typically takes one of two directions in its clinical course:

  1. Progressive anemia and other cytopenias, in which the faulty machinery producing red blood cells, white blood cells and platelets leads to a scarcity of normal blood cells of these types.
  2. Malignant transformation to AML, in which abnormal immature blast cells (which cannot differentiate into normal blood cells) crowd out the normal cells, creating acute leukemia.
City of Hope offers both non-transplant therapies and stem cell transplantation. Specialists work collaboratively to determine the best course of treatment for each patient. Some of these strategies address myelodysplasia using sophisticated genetic markers that aid in both diagnosis and treatment, and advanced chemotherapy protocols using experimental drugs.

Transplantation from a donor remains the only potentially curative treatment for myelodysplasia. City of Hope has seen excellent outcomes from this approach. Our specialists work together to improve patients’ chances of a successful result prior to transplantation.

The full range of treatments at City of Hope includes:

Blood Transfusions
Blood transfusions are often used to treat anemia-based myelodysplastic syndromes, or MDS. By regularly transfusing appropriately-typed donor blood into the anemic patient, normal levels of red blood cells are restored, and symptoms of anemia can be controlled. Platelet transfusions may also help in cases of platelet deficiency (thrombocytopenia).
Growth Factors

Certain compounds, known as growth factors, are known to stimulate the development of specific types of blood cells. In recent years, genetic engineering techniques have made it possible to produce “recombinant human growth factors,” which – although produced in the laboratory – are chemically identical to the compounds produced by the human body.

Stem Cell Transplantation

Hematopoietic cell transplantation and peripheral blood stem cell transplantation use stem cells (immature blood cells) as part of the treatment of a bone marrow disorder. Because myelodysplasia is a bone marrow disorder, stem cell transplantation offers a way to attack the disease at its root.

City of Hope is a widely-acknowledged leader in stem cell transplantation and has developed many innovative transplantation protocols to improve patient outcomes.

Transplant procedures include intensive chemotherapy with or without radiation therapy first to ablate (destroy) the abnormal cells, followed by an infusion of healthy new cells.

Allogeneic Transplantation

Allogeneic transplants use stem cells from a matched donor. Sometimes, a sibling or other close relative is an ideal donor, but in many cases, a matched unrelated donor with a similar genetic type as the patient will be used.

The new, transplanted stem cells produce normal (as opposed to dysplastic) red blood cells, white blood cells and platelets. The “new immune system” that has been transplanted should also fight the proliferation of malignant clones. This is known as the “graft-versus-tumor” effect.

Autologous Stem Cell Transplantation

In autologous (self) transplants, a patient’s own stem cells are collected and frozen ahead of time. This eliminates the risk of graft-versus-host disease, as the graft and the host are one and the same. Typically, stem cells are collected from peripheral blood. After the cells have been stored, intensive chemotherapy and/or radiation treatments are given to destroy any malignant or abnormal cells remaining in the body. Then, the healthy stem cells are infused back into the patient.

As these new stem cells grow, they should produce normal blood cells. However, autologous transplantation is not preferred in myelodysplasia, as the autologous cells may contain the transformed malignant clone.

Standard Chemotherapy

Standard chemotherapy may also be utilized in treating myelodysplasia.

Myelodysplasia Research/Clinical Trials

City of Hope has long been a leader in myelodysplasia research, including promising new combinations of chemotherapy drugs, immunomodulators and stem cell transplant procedures. With our extensive program of clinical trials, City of Hope can provide our patients access to novel therapies, including many of those discussed above, that are not yet available elsewhere.

Learn more about our clinical trials program and myelodysplasia trials.


All of our patients also have access to the Sheri & Les Biller Patient and Family Resource Center, which offers a wide array of support and educational services. Patients and loved ones may work with a coordinated group of social workers, psychiatrists, psychologists, patient navigators, pain management specialists and spiritual care providers at the center, as well as participate in programs such as music therapy, meditation and many others.
Additional Resources

Myelodysplastic Syndromes (MDS) Foundation
US Patient Liaison: Audrey Hassan
P.O. Box 353
Crosswicks, NJ 08515
Phone: 800-MDS-0839, Fax: 609-298-0590

This is an excellent, comprehensive resource for both patients and professionals wishing to learn in-depth information about myelodysplasia. The MDS Foundation is a multidisciplinary, international organization devoted to the prevention, treatment and study of myelodysplastic syndromes. The organization is based upon the premise that international cooperation will accelerate the process leading to the control and cure of these diseases.

Daily Strength Myelodysplasia Support Group
An Internet forum for myelodysplasia patients featuring discussions on diagnosis and treatments.

American Cancer Society
866-228-4327 for TYY
The American Cancer Society has many national and local programs, as well as a 24-hour support line, to help cancer survivors with problems such as travel, lodging and emotional issues.

National Comprehensive Cancer Network ( NCCN )
888-909-NCCN (6226)
The NCCN, an alliance of 21 of the world's leading cancer centers, is an authoritative source of information to help patients and health professionals make informed decisions about cancer care.

National Cancer Institute (NCI)
The NCI, established under the National Cancer Act of 1937, is the federal government's principal agency for cancer research and training.

U.S. Dept. of Health & Human Services National Institutes of Health (NIH)
301-402-9612 for TYY
The NIH is one of the world's foremost medical research centers, and the federal focal point for medical research in the United States. The NIH, comprising 27 separate institutes and centers, is one of eight health agencies of the Public Health Service, which, in turn, is part of the U.S. Department of Health & Human Services.

Support the Search
City of Hope’s cancer breakthroughs are made possible by the generous donations of compassionate, committed people like you: individuals who value the way we speed the translation of laboratory research into practical results. We are proud of the support that enables us to innovate and inspire.

Help accelerate the pace of progress against cancer at City of Hope. Join our worldwide network of donors who fuel new discoveries leading to treatments that save lives everywhere. To arrange a donation, please call 800-544-3541 or view ways to give .

Myelodysplasia Team

Support This Program

It takes the help of a lot of caring people to make hope a reality for our patients. City of Hope was founded by individuals' philanthropic efforts 100 years ago. Their efforts − and those of our supporters today − have built the foundation for the care we provide and the research we conduct. It enables us to strive for new breakthroughs and better therapies − helping more people enjoy longer, better lives.

For more information on supporting this specific program, please contact us below.

Tina Pakfar, Ph.D.
Vice President
Direct: 213-241-7216
Email: tpakfar@coh.org


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