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Myelodysplastic/ Myeloproliferative Neoplasms

To view this article in the new Rare Cancers Australia Knowledgebase, click here 

Definition of myeloproliferative disorders:

A type of disease in which the bone marrow makes too many red blood cells, platelets, or certain white blood cells.

Myeloproliferative disorders usually get worse over time as the number of extra cells build up in the blood and/or bone marrow. This may cause bleeding problems, anemia, infection, fatigue, or other signs and symptoms. Certain myeloproliferative disorders may become acute myeloid leukemia (AML). Myeloproliferative disorders include chronic myelogenous leukemia (CML), polycythemia vera, primary myelofibrosis, essential thrombocythemia, chronic neutrophilic leukemia, and chronic eosinophilic leukemia. Also called chronic myeloproliferative disorder. 

Myelodysplastic/myeloproliferative neoplasms are a group of diseases in which the bone marrow makes too many white blood cells.

Myelodysplastic /myeloproliferative neoplasms are diseases of the blood and bone marrow. Normally, the bone marrow makes blood stem cells (immature cells) that become mature blood cells over time. A blood stem cell may become a myeloid stem cell or a lymphoid stem cell. A lymphoid stem cell becomes a white blood cell. A myeloid stem cell becomes one of three types of mature blood cells:

  • Red blood cells that carry oxygen and other substances to all tissues of the body.
  • White blood cells that fight infection and disease.
  • Platelets that form blood clots to stop bleeding.

Blood cell development; drawing shows the steps a blood stem cell goes through to become a red blood cell, platelet, or white blood cell.  Drawing shows a myeloid stem cell becoming a red blood cell, platelet, or myeloblast, which then becomes a white blood cell. Drawing also shows a lymphoid stem cell becoming a lymphoblast and then one of several different types of white blood cells.

Blood cell development. A blood stem cell goes through several steps to become a red blood cell, platelet, or white blood cell.

Myelodysplastic/myeloproliferative neoplasms have features of both myelodysplastic syndromes and myeloproliferative disorders.

In myelodysplastic diseases, the blood stem cells do not mature into healthy red blood cells, white blood cells, or platelets. The immature blood cells, called blasts, do not work the way they should and die in the bone marrow or soon after they enter the blood. As a result, there are fewer healthy red blood cells, white blood cells, and platelets.

In myeloproliferative diseases, a greater than normal number of blood stem cells become one or more types of blood cells and the total number of blood cells slowly increases.

This summary is about neoplasms that have features of both myelodysplastic and myeloproliferative diseases. See summaries in the A-Z List of Cancers  for more information about related diseases:

There are different types of myelodysplastic/myeloproliferative neoplasms.

The 3 main types of myelodysplastic/myeloproliferative neoplasms include the following:

  • Chronic myelomonocytic leukemia (CMML).
  • Juvenile myelomonocytic leukemia (JMML).
  • Atypical chronic myelogenous leukemia (CML).

When a myelodysplastic/myeloproliferative neoplasm does not match any of these types, it is called myelodysplastic/myeloproliferative neoplasm, unclassifiable (MDS/MPN-UC).

Myelodysplastic/myeloproliferative neoplasms may progress to acute leukemia.

Tests that examine the blood and bone marrow are used to detect (find) and diagnose myelodysplastic/myeloproliferative neoplasms.

The following tests and procedures may be used:

  • Physical exam and history: An exam of the body to check general signs of health, including checking for signs of disease such as an enlarged spleen and liver. A history of the patient’s health habits and past illnesses and treatments will also be taken.
  • Complete blood count (CBC) with differential: A procedure in which a sample of blood is drawn and checked for 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 sample made up of red blood cells.

Complete blood count (CBC); left panel shows blood being drawn from a vein on the inside of the elbow using a tube attached to a syringe; right panel shows a laboratory test tube with blood cells separated into layers: plasma, white blood cells, platelets, and red blood cells. 

Complete blood count (CBC). Blood is collected by inserting a needle into a vein and allowing the blood to flow into a tube. The blood sample is sent to the laboratory and the red blood cells, white blood cells, and platelets are counted. The CBC is used to test for, diagnose, and monitor many different conditions.

  • Peripheral blood smear: A procedure in which a sample of blood is checked for blast cells, the number and kinds of white blood cells, the number of platelets, and changes in the shape of blood cells.
  • Blood chemistry studies: A procedure in which a blood sample is checked to measure the amounts of certain substances released into the blood by organs and tissues in the body. An unusual (higher or lower than normal) amount of a substance can be a sign of disease in the organ or tissue that produces it.
  • Bone marrow aspiration and biopsy: The removal of a small piece of bone and bone marrow by inserting a needle into the hipbone or breastbone. A pathologist views both the bone and bone marrow samples under a microscope to look for abnormal cells.

Bone marrow aspiration and biopsy; drawing shows a patient lying face down on a table and a Jamshidi needle (a long, hollow needle) being inserted into the hip bone. Inset shows the Jamshidi needle being inserted through the skin into the bone marrow of the hip bone.

Bone marrow aspiration and biopsy. After a small area of skin is numbed, a Jamshidi needle (a long, hollow needle) is inserted into the patient’s hip bone. Samples of blood, bone, and bone marrow are removed for examination under a microscope.

The following tests may be done on the sample of tissue that is removed:

  • Cytogenetic analysis: A test in which cells in a sample of blood or bone marrow are viewed under a microscope to look for certain changes in the chromosomes. The cancer cells in myelodysplastic/myeloproliferative neoplasms do not contain the Philadelphia chromosome that is present in chronic myelogenous leukemia.
  • Immunocytochemistry: A test in which a sample of bone marrow is treated with special antibodies and viewed under a microscope to check for certain color changes in the sample of bone marrow. This type of test is used to tell the difference between myelodysplastic/myeloproliferative neoplasms, leukemia, and other conditions.

For more information on Myelodysplastic/ Myeloproliferative Neoplasms click here

This link is to the National Cancer Institute (NCI) cancer website in the United States. There may be references to drugs and clinical trials that are not available here in Australia.

For information about clinical trials that are available in Australia click here

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