Understanding Myeloproliferative Neoplasms
- Myeloproliferative Neoplasms (MPNs) are a group of blood cancers that begin with an abnormal mutation in a stem cell within the bone marrow.
- There are six major types of MPNs: chronic myeloid leukemia, polycythemia vera, primary myelofibrosis, essential thrombocythemia, chronic neutrophilic leukemia, and chronic eosinophilic leukemia.
- MPN patients may experience no symptoms at the early stages of the disease, but can proceed to develop dizziness, night sweats, fatigue, and itchiness, among other symptoms depending on the specific type of MPN.
- MPN may be diagnosed by physical exam, blood tests, cytogenetic analysis, or genetic mutation test, and the treatment options may vary according to the type of MPN a patient has.
Myeloproliferative Neoplasms (MPNs): An Overview
Myeloproliferative Neoplasms (MPNs) are a group of blood cancers that begin with an abnormal mutation in a stem cell within the bone marrow. The diseases occur when the bone marrow makes too many red blood cells, white blood cells, or platelets. "Myeloproliferative Neoplasms are kind of what it sounds like … your bone marrow is proliferating; it is making too many blood cells," Dr. Adrienne Phillips, a Hematologist and Medical Oncologist at Weill-Cornell/New York Presbyterian Hospital, explains to SuvivorNet.
Read More- Chronic myeloid leukemia
- Polycythemia vera
- Primary myelofibrosis (also known as chronic idiopathic myelofibrosis)
- Essential thrombocythemia
- Chronic neutrophilic leukemia
- Chronic eosinophilic leukemia
How treatment is approached will depend on which specific type of MPN a person has.
Symptoms & Diagnosis
"Symptoms that are indicative of a myeloproliferative neoplasm can vary depending on when a patient is first diagnosed," Dr. Philips told SurvivorNet
"Symptoms of MPNs really depend on if you are diagnosed early on in the course of your MPN journey or later on in the course of your MPN journey," Dr. Phillips explained. "If it is an early diagnosis, maybe it is just picked up on routine blood work where your doctor notices that your hemoglobin is higher than it normally should be. Or, your platelet level may be higher than it has been in the past."
In instances where a patient is asymptomatic (without symptoms), the lab workup would be what ultimately leads to a diagnosis. Patients whose disease has progressed a bit more may develop symptoms including, but not limited to, the following:
- Swelling in the belly due to an enlarged spleen or liver
- Fever
- Night sweats
- Itchiness in the skin (pruritus)
- Weight loss
- Headache
- Dizziness
- Fatigue and tiredness
To determine what type of disease a patient has, doctors will perform certain tests, which may include the following:
- Physical exam and health history survey
- Complete blood count (CBC) with differential: a sample that measures blood cell counts
- Peripheral blood smear: where doctors observe the shape, counts, and other aspects of blood
- Blood chemistry studies
- Bone marrow aspiration and biopsy: where doctors observe a small piece of bone marrow, blood, and bone
- Cytogenetic analysis: where chromosomes in the bone marrow and blood samples are examined
- Gene mutation test
Treatment
Treatment options will vary and depend on which specific type of MPN a person has, as well as several other factors. "Myeloproliferative Neoplasms (MPNs) is kind of the overarching title of these diseases and the therapy really depends on what the condition specifically is," Dr. Phillips explained.
In some instances, patients may be able to take a "watch and wait" approach to treatment, but in others, treatment will be necessary as soon as possible.
Chronic Myelogenous Leukemia (CML)
In chronic myelogenous leukemia, the bone marrow is producing too many white blood cells. This is caused by an abnormal gene called BCR-ABL.
"If you have chronic myelogenous leukemia (CML), which is a type of myeloproliferative neoplasms, you are going to be on a therapy that targets the Philadelphia chromosome, which is the genetic mutation of CML. You will be on the pill (oral) formulation of therapy probably for years, if not longer," Dr. Phillips explained.
Treatment options are chosen based on the stage of disease progression and include the following:
- Tyrosine kinase inhibitors, like imatinib (Gleevec )
- Interferon alpha
- Chemotherapy
- Bone Marrow Transplant
Polycythemia Vera (PV)
In polycythemia vera, the bone marrow produces excessive red blood cells or multiple types of blood cells. "Patients with polycythemia vera might need to undergo what we call a phlebotomy. This means they might need to have blood draws every month to make sure that their hemoglobin is not too high to prevent them from getting strokes. They might be on a medication called hydroxyurea, which lowers overall blood counts," Dr. Phillips added.
Other treatment options you doctor may suggest include the following:
- Low dose aspirin
- Interferon alfa
- Rutoxlitinib (Jakafi )
Essential Thrombocythemia (ET)
Essential Thrombocythemia is categorized by the overproduction of the blood cells called platelets. This can cause the blood to become more viscous or thick, which could disrupt your body's normal clotting process.
Treatment options for this subtype of MPN includes low dose aspirin, hydroxyurea, anagrelide, or interferon alfa. Dr. Phillips notes that patients with essential thrombocythemia will most likely need to be on therapy to lower blood counts.
However, if a patient is younger (typically under 60 years old) and has an acceptable blood count and no symptoms, a watchful waiting approach may be taken.
"On the spectrum of the MPNs, essential thrombocythemia is probably the least aggressive of all subtypes," Dr. Ghaith Abu-Zeinah, an instructor in Medicine at Weill Cornell Medical College and an Assistant Attending Physician at the New York-Presbyterian Hospital, told SurvivorNet.
Primary Myelofibrosis (PMF)
Primary myelofibrosis is characterized by the build-up of scar tissue within the bone marrow. This makes it difficult for your bone marrow to normally produce enough healthy blood cells.
Patients with myelofibrosis, if they are displaying signs of anemia (like fatigue or dizziness), may be treated with a steroid or erythropoietic growth factors. Patients experiencing a multitude of symptoms may be given a more advanced targeted therapy, like ruxolitinib (Jakafi ), fedratinib (Inrebic ), or a handful of other treatments.
Chronic Neutrophilic Leukemia (CNL) & Chronic Eosinophilic Leukemia (CEL)
Chronic neutrophilic leukemia is characterized by the overproduction of neutrophils. Neutrophils are a type of white blood cell that help the body fight invaders, like infections and viruses.
Chronic eosinophilic leukemia, on the other hand, is characterized by the overproductions of eosinophils, which are a different type of white blood cell.
Treatment for chronic neutrophilic leukemia and chronic eosinophilic leukemia may involve a bone marrow transplant, immunotherapy, or enrollment into a clinical trial. CNL may also be treated with traditional chemotherapy.
Moving Forward Questions to Ask Your Doctor
- What type of myeloproliferative neoplasm do I have?
- What tests need to be performed to diagnose my condition?
- What treatment options are available for me?
- How do I know if my treatment is working? If I do not have any symptoms, do I need to be started on medication?
- Should I get a second option regarding my diagnosis?
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