Myeloproliferative disorders are a group of blood cancers that require specialists in treating these complex health conditions. AHN hematological oncologists have the expertise to offer personalized treatments.
Myeloproliferative Disorders
What are myeloproliferative disorders?
Myeloproliferative disorders, also called Myeloproliferative Neoplasms (MPNs), are a group of blood cancers that occur when the bone marrow makes too many red blood cells, white blood cells, or platelets. This overproduction can lead to various complications, including blood clots, bleeding, fatigue, and an enlarged spleen.
Although a rare cancer overall, common MPNs include essential thrombocythemia (ET), polycythemia vera (PV), primary myelofibrosis (PMF) and chronic myeloid leukemia (CML). The Leukemia & Lymphoma Society estimates that around 20,000 people will be diagnosed with an MPN annually. PV and ET are the most common types of MPNs. Often, diagnosis happens in older adults with the median age of diagnosis around 60 years.
AHN specialists are experienced in treating these disorders and understand their complexity. Our focus depends on your specific needs, but will usually include controlling blood cell counts, reducing the risk of complications, alleviating your symptoms, and improving your quality of life through slowing down the disease progression.
AHN Hematological Oncology Center of Excellence
The AHN Hematological Oncology Center of Excellence includes physicians dedicated to malignant and benign disorders of the blood. We provide both inpatient and outpatient services and can offer treatment at AHN cancer institute sites throughout the region. This means you can get the care you need closer to home. The team also includes support from:
- Physician assistants
- Nurse practitioners
- Nurses
- Medical assistants
- Pharmacists
- Administrators
Why choose AHN for your myeloproliferative disorder treatment?
AHN specializes in delivering compassionate and comprehensive care that focuses on every patient’s unique needs. Our hematologists, oncologists, and health care providers are highly trained and experienced in treating malignant and benign disorders of the blood. They work together using a multidisciplinary approach where your care is coordinated and tailored to your needs.
Myeloproliferative disorders symptoms and signs
It's important to note that some people with MPNs, especially in the early stages, may not have any noticeable symptoms. The conditions may be discovered during routine blood tests. When symptoms do occur, they can be quite varied. Staying in tune with your health and seeing your health care provider regularly to discuss any concerns with them can be helpful in identifying any potential issues. Some common symptoms and signs of MPNs include:
- Fatigue: Feeling unusually tired or weak. This is a very common symptom.
- Night sweats: Excessive sweating during sleep.
- Itching (pruritus): Can be generalized or more localized, sometimes worse after a warm bath or shower.
- Bone pain: Aching or discomfort in the bones.
- Unexplained weight loss: Losing weight without trying.
- Fever: Low-grade fever or feeling feverish without a clear cause.
- Enlarged spleen (splenomegaly): This can cause a feeling of fullness or discomfort in the upper left abdomen, and sometimes pain.
Causes and risk factors
The exact causes of MPNs are not fully understood. They are generally considered to be an acquired trait, which means not inherited from your biological parents. MPNs appear to arise from genetic mutations in bone marrow stem cells. These mutations can lead to abnormalities in cell production that can cause cancer. The risk factors for developing MPNs are not entirely clear. The few that have been identified include:
- Age: The risk of developing MPNs increases with age. MPNs are most commonly diagnosed in people over the age of 50, with the median age at diagnosis being around 60.
- Exposure to certain chemicals: Prolonged exposure to benzene, a chemical used in various industries, has been linked to an increased risk of certain blood cancers, including MPNs.
- Radiation exposure: Exposure to high doses of radiation, such as from radiation therapy or nuclear accidents, has been associated with an increased risk of developing certain blood cancers.
- History of other blood disorders: In rare cases, having certain other blood disorders may increase the risk of developing an MPN.
- Family history: MPNs are generally not considered hereditary. However, having a family history of MPNs or other blood cancers may slightly increase the risk, although this is not a strong risk factor.
- Sex: Some MPNs, like PV, are slightly more common in those assigned male at birth. ET and PMF have a more equal distribution between sexes.
- Inflammation: Recent studies have suggested that chronic inflammation in the body can increase a person's risk of developing MPNs.
Myeloproliferative disorders screening and diagnosis
Since MPNs often present with nonspecific symptoms or may be discovered incidentally during routine blood work, screening typically isn't done in the general population. Instead, the diagnostic process is initiated based on clinical suspicion arising from symptoms or abnormal blood counts.
Clinical tests
Patients may present with symptoms such as fatigue, weakness, unexplained weight loss, night sweats, itching, bone pain, abdominal discomfort (due to enlarged spleen), or unusual bleeding or bruising. An incidental finding of elevated red blood cell count, platelet count, or white blood cell count may be found during routine blood work. Unexplained blood clots in unusual locations (e.g., hepatic vein thrombosis) and detection of splenomegaly (enlarged spleen) during a physical exam also guides diagnosis. Initial evaluation may also include:
- Complete blood count (CBC) with differential: Measures the levels of red blood cells, white blood cells, and platelets. Identifies any abnormalities in these cell lines.
- Peripheral blood smear: A blood sample is examined under a microscope to assess the morphology (shape and appearance) of the blood cells. Can reveal abnormal cell types or unusual features suggestive of an MPN.
Bone marrow examination
If the initial evaluation suggests an MPN, a bone marrow aspiration and biopsy are usually performed. These tests assess the cellularity of the bone marrow, evaluates the morphology of the cells, and shows any abnormal cells or features, such as fibrosis (scarring) in the bone marrow. Bone marrow tests my include:
- Bone marrow aspiration: A small amount of liquid bone marrow is extracted for examination.
- Bone marrow biopsy: A core of bone marrow tissue is removed for histological analysis.
Genetic testing
Genetic testing is a crucial part of the diagnostic process for MPNs and may include:
- JAK2 mutation testing: The JAK2 V617F mutation is found in a significant proportion of patients with PV, ET, and PMF. Testing for this mutation is usually the first step in genetic evaluation.
- CALR mutation testing: Mutations in the CALR gene are common in patients with ET and PMF who do not have the JAK2 V617F mutation.
- MPL mutation testing: Mutations in the MPL gene are less common but can be found in some patients with ET and PMF.
- Other genetic testing: Depending on the clinical presentation and initial test results, additional genetic testing may be performed to look for other mutations that can help refine the diagnosis and prognosis. This may include testing for mutations in genes such as ASXL1, EZH2, TP53, and others.
Additional tests may include:
- Cytogenetic analysis: To look for chromosomal abnormalities.
- Flow cytometry: To analyze the expression of specific proteins on the surface of blood cells.
- Imaging studies: Such as ultrasound or CT scan, to assess spleen size and look for other abnormalities.
- Erythropoietin level: To help differentiate between PV and secondary erythrocytosis.
Types and stages of myeloproliferative disorders
Unlike other cancers, myeloproliferative disorders (MPNs) are not staged. MPNs are classified into their risk based on factors including blood counts, symptoms, and genetic mutations. The AHN Benign and Malignant Blood Cancer Center of Excellence’s experienced specialists are highly trained in identifying and treating the various types of MPNs. We see you and your unique needs and will tailor care to ensure your treatment is personalized.
Chronic myeloid leukemia (CML)
This type of cancer starts in the blood-forming cells of the bone marrow and then moves into the blood. Myeloid refers to a lineage of blood cells that originate in the bone marrow. It is characterized by an increased number of cancerous white blood cells, particularly granulocytes, in the blood and bone marrow. CML is relatively rare and accounts for about 15% of all adult leukemias. The survival rates for CML have improved dramatically since the introduction of tyrosine kinase inhibitors (TKIs). With TKI therapy, most patients with CML can achieve a normal or near-normal lifespan.
Essential thrombocythemia (ET)
Essential thrombocythemia (ET) is a long-term myeloproliferative neoplasm. This means that patients often live with this disorder and will receive treatment to control or prevent symptoms. ET is characterized by an overproduction of platelets in the bone marrow, leading to an increased risk of blood clots or bleeding. ET is relatively rare, with an estimated incidence of 1 – 2.5 per 100,000 people per year, and is often diagnosed incidentally during routine blood work. While ET can cause significant complications, many individuals can live for decades with the condition, especially with appropriate care to manage blood counts and reduce the risk of thrombosis. The prognosis and health outcomes for ET vary depending on individual risk factors, such as age, history of blood clots, and presence of certain gene mutations.
Polycythemia vera (PV)
Polycythemia Vera (PV) is a chronic myeloproliferative neoplasm characterized by an overproduction of red blood cells, often accompanied by an increase in white blood cells and platelets. PV is relatively uncommon, with an estimated incidence of around 1 – 2 per 100,000 people per year, and is often associated with a mutation in the JAK2 gene. The JAK2 gene provides instruction for making proteins that are involved in regulating blood cell production, immune function, and cell growth. Without proper care, PV can lead to serious complications such as blood clots, stroke, or heart attack, but with appropriate management, including phlebotomy and medication, many individuals can live for many years with a good quality of life. The prognosis for PV depends on factors such as age, risk of thrombosis, and response to care.
Primary myelofibrosis (PMF)
Primary myelofibrosis (PMF) is a chronic myeloproliferative neoplasm characterized by progressive scarring (fibrosis) of the bone marrow, leading to impaired blood cell production and often resulting in anemia and an enlarged spleen (splenomegaly). PMF is the least common of the major MPNs, and its cause is linked to genetic mutations, most commonly in the JAK2, CALR, or MPL genes. The prognosis for PMF is variable, with some individuals experiencing slow progression and others facing a more aggressive course, but treatments like JAK inhibitors and, in select cases, stem cell transplantation can help manage symptoms and improve survival. The outlook for PMF depends on individual risk factors, such as age, blood counts, symptom severity, and genetic mutations.
Other MPNs include:
- Chronic neutrophilic leukemia (CNL): Overproduction of neutrophils.
- Chronic eosinophilic leukemia, Not Otherwise Specified (CEL, NOS): Overproduction of eosinophils.
- MPN, unclassifiable (MPN-U): Cases that don't fit neatly into the other categories.
- Atypical chronic myeloid leukemia (aCML): A myelodysplastic/myeloproliferative neoplasm (MDS/MPN), meaning it shares features of both myelodysplastic syndromes (MDS) and myeloproliferative neoplasms (MPNs).
If you are diagnosed with an MPN, your AHN specialist will use a combination of factors to determine the risk stratification of your disease. These risk systems help determine the treatment decisions and your overall prognosis.
Myeloproliferative disorders treatment
At AHN, your care involves a team of health care professionals, including hematologists, oncologists, nurses, and supportive care specialists. The treatment for MPNs depends on the specific type of MPN, the patient's symptoms, and their risk of complications. The primary goals of treatment are to control the overproduction of blood cells, relieve symptoms, prevent complications (such as blood clots), and improve the patient's quality of life.
Chronic myeloid leukemia (CML) treatment
The treatment for CML has been revolutionized by the development of targeted therapies called tyrosine kinase inhibitors (TKIs). These drugs specifically target the BCR-ABL1 protein, blocking its activity and stopping the growth of CML cells. TKIs are usually very effective in controlling CML and can lead to a complete cytogenetic response (no Philadelphia chromosome detected) and a major molecular response (very low levels of BCR-ABL1 mRNA). Most patients need to take TKIs indefinitely to keep the CML under control, which may include:
- Imatinib (Gleevec): The first TKI developed for CML and is highly effective. Usually taken orally once daily.
- Dasatinib (Sprycel): A second-generation TKI that is more potent than imatinib. May be used as a first-line treatment or for patients who are resistant to or intolerant of imatinib. Usually taken orally once daily.
- Nilotinib (Tasigna): Another second-generation TKI. Also used as a first-line treatment or for patients who are resistant to or intolerant of imatinib. Usually taken orally twice daily on an empty stomach.
- Bosutinib (Bosulif): Another TKI option, which may be used as a first-line or second-line treatment. Taken orally once daily.
The side effects of TKIs can vary depending on the specific drug and the individual patient. Common side effects include fatigue, nausea, diarrhea, muscle cramps, skin rash, and fluid retention. More serious side effects can include heart problems, lung problems, and liver problems. Patients should be closely monitored for side effects while taking TKIs.
Stem cell transplant (allogeneic) is the only potentially curative treatment for CML. It involves replacing the patient's bone marrow with healthy bone marrow from a donor. Stem cell transplant is usually reserved for patients who have failed TKI therapy or who are in advanced phases of the disease.
Essential thrombocythemia (ET) treatment
Treatment decisions are based on an individual's risk stratification, considering factors like age, history of thrombosis or bleeding, cardiovascular risk factors, and presence of the JAK2, CALR, or MPL mutation. Our approach to care may include:
- Low-risk patients: Patients with ET who are at low risk of blood clots may not need immediate treatment. They may be monitored with regular blood counts and physical exams.
- High-risk patients: Patients with ET who are at high risk of blood clots (e.g., those with a history of blood clots, older age, or other risk factors) may need treatment to lower their platelet count.
- Low-dose aspirin: Is often recommended to help prevent blood clots.
- Hydroxyurea: A chemotherapy drug that can lower platelet counts.
- Anagrelide: A drug that specifically lowers platelet counts.
- Interferon alfa: An immune-modulating drug that can help control platelet production.
- JAK2 inhibitors: Ruxolitinib may be considered in patients who have failed other treatments.
Polycythemia vera (PV)
The primary goals of polycythemia vera (PV) treatment are to reduce the risk of blood clots, relieve symptoms, and prevent the disease from progressing to myelofibrosis or acute leukemia. Treatment is tailored to the individual patient based on their age, risk factors, and symptoms, and may include:
- Phlebotomy: The primary treatment for PV is phlebotomy, which involves removing blood to reduce the red blood cell count.
- Low-dose aspirin: Is also recommended to help prevent blood clots.
- Cytoreductive therapy: Some patients with PV may need additional treatment to lower their red blood cell count and reduce the risk of complications.
- Hydroxyurea: A chemotherapy drug that can lower red blood cell counts.
- Interferon alfa: An immune-modulating drug that can help control red blood cell production.
- Ruxolitinib (Jakafi): A JAK2 inhibitor that can help reduce spleen size and improve symptoms in patients with PV.
- Busulfan: A chemotherapy drug used to lower white blood cell counts.
- Pipobroman: An alkylating agent with selective action on hemopoietic tissue.
Primary myelofibrosis (PMF) treatment
The specific treatment plan depends on several factors, including the patient's risk category (based on prognostic scoring systems like IPSS or DIPSS), symptoms, and overall health. Common treatment approaches include:
- Supportive care: Treatment for PMF is often focused on managing symptoms and preventing complications.
- Blood transfusions: To treat anemia.
- Growth factors: Erythropoiesis-stimulating agents (ESAs) may help improve anemia in some patients.
- Hydroxyurea: Can help reduce spleen size and lower white blood cell and platelet counts.
- Ruxolitinib (Jakafi): A JAK2 inhibitor that can help reduce spleen size and improve symptoms in patients with PMF.
- Danazol or thalidomide: Medications that can improve anemia and reduce spleen size in some patients.
- Radiation therapy: May be used to treat an enlarged spleen or bone pain.
- Stem cell transplant (allogeneic): This is the only potentially curative treatment for PMF. It involves replacing the patient's bone marrow with healthy bone marrow from a donor. Stem cell transplant is usually reserved for younger patients with high-risk disease.
Treatment for rarer types of MPNs
Rare types of MPNs have different treatment approaches including:
- Chronic neutrophilic leukemia (CNL): A is a rare myeloproliferative neoplasm characterized by a sustained increase in neutrophils in the blood. Unfortunately, there's no standard, universally effective treatment for CNL due to its rarity and complex nature. Treatment may include hydroxyurea or other chemotherapy drugs to lower the neutrophil count.
- Chronic eosinophilic leukemia, not otherwise specified (CEL, NOS): Treatment may include corticosteroids, interferon alfa, or other chemotherapy drugs to lower the eosinophil count. Some patients with CEL may have a mutation in the PDGFR or FGFR gene, which can be treated with targeted therapies.
Clinical trials
Clinical trials are research studies that evaluate new treatments, care approaches, or ways to prevent diseases. MPN clinical trials may investigate novel drugs, combinations of therapies, or different approaches to stem cell transplantation. Participating in a clinical trial can provide patients with access to cutting-edge treatments that are not yet widely available and can contribute to advancing the understanding and care of MPNs, but risks should always be considered. Clinical trials are a crucial part of improving outcomes and finding better care strategies for individuals with MPNs. Work with your AHN care team to learn about active clinical trials for blood cancer available at AHN.
Myeloproliferative disorders FAQs
Myeloproliferative disorders can bring about a lot of questions. Your AHN care team is here to help and be your resource as you go through treatment. To help you feel informed and confident in your care decisions, these frequently asked questions can help guide your conversations with your health care providers.
How long can you live with a myeloproliferative disorder?
The life expectancy for individuals with MPNs varies widely depending on the specific type of MPN, the risk stratification (low, intermediate, high), and the individual's overall health. Some people with low-risk MPNs, like essential thrombocythemia (ET) or polycythemia vera (PV), can live for many years, even decades, with appropriate care. Others, particularly those with high-risk primary myelofibrosis (PMF) or those who transform to acute leukemia, may have a shorter life expectancy.
Are myeloproliferative disorders cancer?
Yes, myeloproliferative neoplasms (MPNs) are considered to be a type of cancer. They are blood cancers that originate in the bone marrow and are characterized by the abnormal proliferation of blood cells.
What is the prognosis for myeloproliferative disorders?
The prognosis for MPNs varies depending on several factors, including the specific type of MPN, the patient's age, risk stratification, genetic mutations, and response to care. Generally, patients with low-risk MPNs have a better prognosis than those with high-risk disease. For example, in Primary Myelofibrosis (PMF), the Dynamic International Prognostic Scoring System (DIPSS) and other risk scores are used to estimate survival.
What is the difference between leukemia and a myeloproliferative disorder?
Leukemia and myeloproliferative neoplasms (MPNs) are both types of blood cancers, but they differ in some key ways. Leukemia is generally characterized by a rapid increase in the number of abnormal white blood cells in the bone marrow and blood, often crowding out normal blood cells. In contrast, MPNs involve the overproduction of one or more types of blood cells (red blood cells, white blood cells, or platelets) and often have a more chronic course. However, some MPNs can transform into acute leukemia.
What is the survival rate for myeloproliferative disorders?
The survival rate for MPNs varies considerably depending on the specific type of MPN and individual risk factors. Because survival rates are highly dependent on individual factors, consulting with a health care professional who can assess the specific case is essential.
Contact us
Call the Division of Hematology and Cellular Therapy at 412-578-4484 to make an appointment with a hematologist. Patients needing immediate care are usually admitted to AHN West Penn Hospital and care is coordinated from there. Patients are otherwise seen in the outpatient office in the Mellon Pavilion. Once scheduled, our staff will instruct you on what is needed so that our doctors get access to your medical records.
Second opinions
If you have cancer, you have a team of oncology specialists ready to review your medical records and offer you a second opinion. After completing their review, they’ll talk with you about your goals to determine a course of treatment that’s right for you. To get started, fill out our Second Opinion Request form. A nurse navigator will contact you within the next 24 to 48 hours to discuss next steps and schedule.