Myelodysplastic/Myeloproliferative Neoplasms

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What Are Myelodysplastic/Myeloproliferative Neoplasms?

Our blood cells—which are responsible for blood clotting, transportation of oxygen in the body, and immune defense against microorganisms that cause disease—are made in the marrow of our bones. Bone marrow is a spongy substance and houses the progenitor cells that give rise to our many different kinds of blood cells. In rare cases, these progenitor cells, do not develop properly and immature blood cells, also known as “blasts,” build up in the bone marrow and can be found in the blood. Their buildup reduces the number of healthy blood cells that are produced. These cases are known collectively as myelodysplastic syndromes (abbreviated as “MDS”) and are characterized by some combination of low blood cell counts (low red blood cells, low platelets, and/or low white blood cells). In rare cases, blood cells may also proliferate abnormally in the bone marrow. These cases are known as myeloproliferative neoplasms (alternatively known as “myeloproliferative disorders” and abbreviated as either “MPN” or “MPD”). Myelodysplastic/myeloproliferative neoplasms (abbreviated as “MDS/MPN”) are diseases which have features of both myelodysplastic syndromes and myeloproliferative neoplasms, and the different types of myelodysplastic/myeloproliferative neoplasms are described below:


In atypical chronic myelogenous leukemia (abbreviated as “aCML”), the bone marrow produces too many granulocytes. Granulocytes are a type of immature white blood cell that matures into other white blood cells (eosinophils, basophils, and neutrophils) that normally protect the body from infection.

Chronic myelomonocytic leukemia (abbreviated as “CMML”) gets its name from the overproduction of myelocytes and monocytes, which are immature white blood cells (also referred to as “blasts”) and whose overproduction congests the bone marrow. This congestion disrupts the production of healthy blood cells.

Juvenile myelomonocytic leukemia (abbreviated as “JMML”) is a rare cancer that occurs mainly in young children and, like CMML, is characterized by an overproduction of myelocytes and monocytes.

Myelodysplastic/myeloproliferative neoplasm, unclassifiable (abbreviated as “MDS/MPN-UC”) occurs when the disorder has features that distinguish it from any of the MDS/MPN types described above.


Signs and Symptoms of Myelodysplastic/Myeloproliferative Neoplasms

The following may be indicative of a myelodysplastic/myeloproliferative neoplasm but may also be indicative of other illnesses:

  • Abdominal bulging, discomfort, and/or pain
  • Bleeding
  • Bruising
  • Fatigue
  • Feeling of fullness
  • Frequent infections
  • Pale appearance
  • Persistent or recurrent fever
  • Red spotting of the skin
  • Shortness of breath
  • Unintentional weight loss
  • Weakness

It is important you tell your doctor if you have any of these signs and symptoms, so he or she may determine their cause and plan treatment, if necessary.


How Are Myelodysplastic/Myeloproliferative Neoplasms Detected?

Our specialists collect information regarding medical history, surgical history, social history, and family history; conduct laboratory testing, and review radiological studies to approach patient care in the most comprehensive and personalized manner.

The blood test normally used to assess for blood disorders is known as the “Complete Blood Count.” This test will allow your doctor to determine if you have an abnormal amount of anyone or any combination of blood cell types. To investigate a suspicious finding further, your doctor may choose to order a flow cytometry or bone marrow biopsy. Flow cytometry is a cell counting technique used to gather more information about cells in the blood. A bone marrow biopsy is a tissue sampling technique used to determine the composition of the bone marrow and whether or not it is involved by an abnormality, such as a myelodysplastic/myeloproliferative neoplasm.

What Causes Myelodysplastic/Myeloproliferative Neoplasms?

Myelodysplastic/myeloproliferative neoplasms occur because the bone marrow displays features of a myeloproliferative neoplasm—abnormal production of blood cells—in addition to features of myelodysplastic syndrome—blood cells that do not mature properly. Increased likelihood of developing JMML has been linked to Noonan syndrome and neurofibromatosis type 1. For CMML, risk factors include aging, being male, exposure to carcinogens and/or radiation, and having been treated with certain chemotherapies. For the most part, however, physicians and scientists are still trying to determine what causes myelodysplastic/myeloproliferative neoplasms to develop.