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Myeloproliferative Neoplasms

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Laboratory Tests

  • Complete blood count (CBC) with differential and blood smear

CBCs and differentials are common tests and may be used to help diagnose and monitor MPNs. They are routine tests that count the number and relative proportion of each of the different types of cells in a blood sample. Along with blood smears, they also provide information about the size, shape, and relative maturity of the blood cells present in a person's blood at that moment.

CBCs and differentials can be used to detect WBC, RBC, and platelet increases, decreases, and abnormalities. They can help determine the severity of these changes (i.e., increases, decreases), diagnose their cause, monitor the course of a disease, and monitor the response to treatment.

    • With polycythemia vera, increased RBCs, platelets, and sometimes WBCs may be seen.
    • With myelofibrosis, immature granulocytes, misshapen teardrop-shaped red blood cells, and immature nucleated red blood cells are often seen, and WBC and RBC numbers are often decreased.
    • With thrombocythemia, greatly increased numbers of platelets are seen along with abnormally large or giant platelets and platelet clumps.

Irregularities in cell counts may be due to MPNs, but they may also be due to a variety of other temporary or chronic conditions. Other testing is usually done to confirm or rule out the diagnosis of an MPN.

  • Bone marrow aspiration/biopsy

If a bone marrow disorder is suspected, a healthcare practitioner may order a bone marrow aspiration or biopsy to collect a small sample of marrow. When a specialist (a pathologist, oncologist, or hematologist) examines the bone and fluid portion of the bone marrow sample under the microscope, the type, number and appearance of various cells can be assessed and, if present, overgrowth of certain types of cells, fibrosis, and tumors can be determined. Most bone marrow disorders can be revealed during this examination, but further testing may be necessary to confirm a diagnosis.

  • Cytogenetic analysis involves microscopic examination of chromosomes in a blood or bone marrow sample. It may be used to look for chromosomal abnormalities associated with chronic myeloid (myelogenous) leukemia.
  • Molecular testing for certain genetic mutations associated with MPNs is an important tool for diagnosis and guiding treatment.
    • BCR-ABL mutation test—a translocation in the BCR/ABL1 gene, present on the Philadelphia (Ph') chromosome, is associated with chronic myeloid (myelogenous) leukemia.
    • JAK2 test—mutations are associated with polycythemia vera, essential thrombocythemia, and primary myelofibrosis.
    • MPL test— mutations are associated with essential thrombocythemia and primary myelofibrosis.
    • CALR test--mutations are associated with essential thrombocythemia and primary myelofibrosis.

Other tests that sometimes are ordered include:

  • Arterial blood gases (ABGs). This test measures the amount of gases in the blood from an artery and may be done when polycythemia vera is suspected. Low levels of oxygen are associated with secondary polycythemia.
  • Erythropoietin is a hormone that stimulates the bone marrow to produce RBCs. Very low or absent erythropoietin levels are associated with primary polycythemia. Normal or high levels are associated with secondary polycythemia.

Non-laboratory Tests
X-rays and other imaging scans are sometimes used to look for signs of disease, such as masses of cells in the chest, spleen, or liver.

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