Myeloproliferative Neoplasms (MPNs) Patient Stories & Specialist Interviews
Myeloproliferative neoplasms, also referred to commonly as “MPNs,” comprise a group of diseases caused by the bone marrow overproducing red blood cells, white blood cells, or platelets.
Three of the most common types of MPNs are essential thrombocythemia (ET), polycythemia vera (PV), and myelofibrosis (MF).
- MPN Patient Stories
Myeloproliferative Neoplasms (MPNs)
What are Myeloproliferative Neoplasms (MPNs)?
Myeloproliferative neoplasms (MPNs), also known as myeloproliferative disorders (MPDs), are a collection of blood cancer disorders believed to be caused by mutations in bone marrow stem cells. The mutations result in the production of too many of one or several different types of blood cells, which in turn thickens the blood and crowds the bone marrow.
When trying to understand MPNs or any complicated disease, it helps to break down the name of the disease to make it more approachable.
- Myelo – A combining form that means bone marrow.
- Proliferative – Comes from the verb proliferate, meaning rapid production or increase in number.
- Neoplasm – An abnormal tissue mass that forms when cells grow faster or in larger quantities than they should.
What are the Myeloproliferative Neoplasm Subtypes?
MPNs are typically broken into three common types. They are classified based on whether too many red blood cells, white blood cells, or platelets are being made. The common MPN subtypes include:
- Polycythemia vera (PV) – the overproduction of red blood cells. Mainly occurs in men over the age of 60.
- Essential thrombocythemia (ET) – the overproduction of platelets. Mostly occurs in women over the age of 50.
- Primary myelofibrosis (PM) – the production of fibrous (scar) tissue in the bone marrow. Most common in men and women over 60.
While the above subtypes are often considered the “classic” MPNs, the group of diseases has also been expanded to include:
- Myeloid leukemia – overproduction of white blood cells.
- Neutrophilic leukemia – overproduction of neutrophils, a kind of white blood cell.
- Eosinophilic leukemia – overproduction of eosinophilic leukemia, a different type of white blood cell.
Are Myeloproliferative Neoplasms Cancer?
Yes, MPNs are cancer, but that wasn’t always the case. In 2008, the World Health Organization classified MPNs as cancer and changed the name of the group of diseases from myeloproliferative diseases to myeloproliferative neoplasms.
What Causes Myeloproliferative Neoplasms?
While the exact cause of MPNs are unknown, they are linked with the mutation of the JAK2, CALR, and MPL genes. Additionally, MPNs have been associated with overexposure to radiation, electrical wiring, and certain chemicals such as benzene and toluene.
What are the Most Common Symptoms of MPNs?
Most people don’t experience any symptoms in the early stage of MPNs. In fact, most cases of MPNs are caught during a routine blood test. According to Boston Children’s Hospital, some of the common MPN symptoms include:
- Headaches or dizziness
- Fatigue or weakness
- Pruritus (extreme itchiness)
- Hypertension (raised blood pressure)
- Night sweats
Symptoms may vary based on the type of MPN.
You become anemic, among other things, and so your high risk for clots and also for bleeding sort of live between this vicarious place between a risk of bleeding and a risk of clotting.Ruth Fein | Read More
How are MPNs Diagnosed?
Several tests are used to examine blood and bone marrow to diagnose MPNs. According to NYU Langone, some of the most common tests include:
- Physical exam – while your doctor will check for signs of general well-being, they’ll specifically look for an enlarged spleen. With the exception of essential thrombocythemia, an enlarged spleen is one of the most common external symptoms of MPNs.
- Blood Tests
- Complete blood count – done by completing a blood withdrawal and measuring:
- Red blood cells and platelets
- White blood cells (number and type)
- Hemoglobin present in red blood cells
- Peripheral blood smear – a blood sample is viewed under a microscope to measure blood cells and platelets and look for blasts.
- Complete blood count – done by completing a blood withdrawal and measuring:
- Bone marrow aspiration and biopsy – blood, bone marrow, and a piece of bone are removed from your body with a bone marrow needle to examine under a microscope of abnormal cells. The sample is typically taken from your hipbone or breastbone, numbing the area before extraction. The sample is also used for the following:
- Cytogenic analysis is a laboratory test on the blood or bone marrow sample to look for abnormal changes in specific chromosomes.
- Gene mutation test looks for JAK, MPL, or CALR gene mutations from a bone marrow sample.
While these are some of the standard tests used to diagnose MPNs, your doctor may suggest other tests depending on your health history and individual circumstance.
Well, it turned out that that special testing was they were sending those vials of blood off for genetic testing to a lab in Florida to see if I had any genetic mutations. That would would further be the differential diagnosis in my treatment and defined my treatment.Mary L. | Read More
How Common are Myeloproliferative Neoplasms?
According to the Leukemia and Lymphoma Society, approximately 20,000 people in the US are diagnosed with an MPN yearly, with about 295,000 living with one each year. For reference, in 2021, about 331.9 million people were living in the United States.
While MPNs can impact any age group, diagnosis is most prevalent in people over the age of 60.
What are the Treatment Options for Myeloproliferative Neoplasms?
Making cancer treatment decisions can be difficult. Understanding the benefits and impacts of each treatment is essential. With MPNs, there are 11 standard treatment options available. According to NIH, These include:
- Phlebotomy – While phlebotomy is often used to remove blood for testing, it can also be used to remove excess red blood cells from the body as a form of treatment.
- Platelet apheresis – Using a plasma collection machine (PCM), the blood products are separated after being withdrawn from the body and then returned to the body at normal levels.
- Transfusion therapy – Transferring donated blood to help provide you with blood cells that your body may need.
- Chemotherapy – A drug that is administered via an IV or a pill with the intent to kill cells throughout the entirety of the body.
- Radiation therapy – The body is exposed to radiation to kill cancer cells or limit their growth. Radiation therapy can be administered in two different ways:
- External radiation therapy – A machine that produces a beam of radiation to target a specific part of the body.
- Radiation drug therapy – A drug known as P32 is administered intravenously to help lower the blood cells produced by the bone marrow.
- Drug therapy – Your doctor may prescribe drugs like aspirin or other over-the-counter medications to help limit the impact of MPNs.
- Targeted therapy – Specific drugs that target and kill cancer cells without harming other cells in your body. Two of the most commonly used target therapy drugs for MPNs include:
- TKI (tyrosine kinase inhibitor) – Blocks the signals cancer cells need to grow
- Ruxolitinib – Blocks the JAK2 mutation.
What happened is that I got this combination therapy known as FCR (fludarabine-cyclophosphamide), 2 chemo drugs, and a targeted monoclonal antibody, rituximab. I was like patient number 70 and I got that combination 10 years before it was approved as a combination by the FDA.– Andrew S. | Read More
- Immunotherapy – Stimulating or boosting your immune system to help your body fight cancer.
- Splenectomy – In severe cases, your doctor may have to perform surgery to remove your spleen if it becomes too enlarged.
- Stem Cell Transplant – this is used in combination with chemotherapy. Once all the cancerous cells have been destroyed, donated stem cells are infused into the body to help it begin growing healthy, non-cancerous cells.
Are There Clinical Trials for MPNs?
While plenty of options are available to help treat the symptoms of myeloproliferative neoplasms, continuous research is constantly happening to find new ways to treat and even cure MPNs.
If you are interested in participating in a clinical trial that may help advance research on MPNs, check out the MPN Research Foundation’s MPN Clinical Trial Pipeline.
>>> Explore More: MPN Treatments
MPN Patient Stories
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Myelofibrosis experts John Mascarenhas, MD, from Mount Sinai and Tania Jain, MBBS, from Johns Hopkins explain cutting-edge therapies. Clinical trial nurse Ashley Giacobbi and myelofibrosis patient advocate Mary Linde share powerful insights to help you navigate all aspects of clinical trials.
Srdan Verstovsek, MD, PhD
Role: Director, Clinical Research Center for MPNs at MD Anderson; Section Chief, MPNs; Prof., Dept. of Leukemia
Focus: Myeloproliferative neoplasms (MPN)
Institution: MD Anderson
Myelofibrosis is a rare cancer of the bone marrow. Learn more about myleofibrosis symptoms, diagnosis, treatment and more.
Polycythemia vera (PV) is a rare, chronic blood disorder. Learn more about polycythemia vera symptoms, diagnosis, treatment and more.
Essential thrombocythemia (ET) is a rare form of blood cancer in which the bone marrow overproduces platelets. Learn more about essential thrombocythemia symptoms, diagnosis, treatment and more