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Myelodysplastic/Myeloproliferative Neoplasms

Diagnosis and Treatment Information

What Are Myelodysplastic/Myeloproliferative Neoplasms?

Our blood cells, which are responsible for clotting, transporting oxygen, and defending against infection, are made in the bone marrow. Bone marrow is a spongy tissue inside our bones that contains progenitor cells. These progenitor cells normally develop into mature blood cells. In some cases, however, these cells do not develop properly. Instead, immature blood cells, also known as blasts, build up in the bone marrow and blood. This limits the production of healthy blood cells. These conditions are known as myelodysplastic syndromes (MDS) and are characterized by low numbers of red blood cells, platelets, and/or white blood cells. In other cases, the bone marrow produces too many blood cells. These are called myeloproliferative neoplasms (MPN). Myelodysplastic/myeloproliferative neoplasms (MDS/MPN) are rare disorders that show features of both MDS and MPN.

Types of MDS/MPN include:

  • Atypical chronic myelogenous leukemia (aCML): The bone marrow produces too many granulocytes, a type of immature white blood cell that normally develops into eosinophils, basophils, and neutrophils.
  • Chronic myelomonocytic leukemia (CMML): The bone marrow makes too many myelocytes and monocytes, which are immature white blood cells. Their buildup crowds out healthy blood cell production.
  • Juvenile myelomonocytic leukemia (JMML): A rare cancer seen mainly in young children, also marked by excess production of myelocytes and monocytes.
  • MDS/MPN-unclassifiable (MDS/MPN-UC): A diagnosis used when the disease shows features of both MDS and MPN but does not clearly fit into one of the categories above.

Signs and Symptoms of Myelodysplastic/Myeloproliferative Neoplasms

The following may be signs of an MDS/MPN but may also be caused by other conditions:

  • Abdominal bulging, discomfort, or pain
  • Bleeding or bruising easily
  • Fatigue
  • Feeling full quickly
  • Frequent infections
  • Pale appearance
  • Persistent or recurrent fever
  • Red spots on the skin
  • Shortness of breath
  • Unintentional weight loss
  • Weakness

It is important to share any of these symptoms with your doctor so the cause can be identified and treatment planned if needed.

How Are Myelodysplastic/Myeloproliferative Neoplasms Detected?

Our specialists review your medical, surgical, social, and family history, order laboratory testing, and assess radiology studies to provide comprehensive care. The main blood test used to evaluate blood disorders is the Complete Blood Count (CBC). This test measures the numbers of different blood cell types and can identify abnormalities. If results are suspicious, further tests may include:

  • Flow cytometry: A method of counting and analyzing blood cells to gather more information.
  • Bone marrow biopsy: Removal of a small sample of bone marrow to check its composition and identify abnormal cells.

What Causes Myelodysplastic/Myeloproliferative Neoplasms?

MDS/MPN occurs when bone marrow shows both abnormal overproduction of blood cells and failure of blood cells to mature properly. Risk factors vary depending on the type:

  • JMML: Linked to genetic conditions such as Noonan syndrome and neurofibromatosis type 1.
  • CMML: Risk is higher with aging, being male, prior chemotherapy treatment, or exposure to carcinogens or radiation.

For most cases of MDS/MPN, the exact cause is still unknown.

How Are Myelodysplastic/Myeloproliferative Neoplasms Treated?

Treatment of MDS/MPN depends on the type of disorder, its severity, and the patient’s overall health. Options may include chemotherapy, immunotherapy, targeted therapy, stem cell transplant, or supportive care measures such as transfusions and medications to boost blood cell counts. These treatments may be used individually or in combination depending on your doctor’s recommendations. It is important to discuss all of your treatment options with your doctor. Factors to consider when developing a treatment plan include:

  • Your age, health, and lifestyle
  • The type and stage of your disease
  • Any other serious health conditions you may have
  • Your feelings about the need to begin treatment right away
  • Your doctor’s opinion about timing of treatment
  • The likelihood that treatment will control or cure the disease
  • Possible side effects of each treatment option

You and your doctor should work together to weigh the benefits and risks of each option in order to choose the treatment plan best suited for your needs.

Our Approach

We understand that a diagnosis of MDS/MPN can be overwhelming and difficult to process. At New York Cancer & Blood Specialists, we build our care teams around you. Our oncologists will guide you step by step, answering questions and tailoring treatment to your needs. If you or a loved one is experiencing symptoms that may be related to MDS/MPN, please call us at (855) 528-7322 or request an appointment online.

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