Laboratory Findings Associated with Myeloproliferative Neoplasms (MPNs)

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The page below is a sample from the LabCE course Myeloproliferative Neoplasms. Access the complete course and earn ASCLS P.A.C.E.-approved continuing education credits by subscribing online.

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Laboratory Findings Associated with Myeloproliferative Neoplasms (MPNs)

Table 2 below summarizes the laboratory findings that are often associated with the myeloproliferative neoplasms discussed in this course.
Table 2.MPN Laboratory Findings.
Disorder
Peripheral Blood Abnormalities
Bone Marrow Abnormalities
Possible Genetic Abnormalities
Comments
Chronic myeloid leukemia (CML)
Three phases:
  • Chronic
  • Accelerated
  • Blast
Chronic phase
  • WBC count may be over 100 x 109/L with left shift
  • Increased platelet count
  • Reduced RBC count; moderate anemia
  • Blasts <20%
  • Low LAP* score
Accelerated phase
  • Nonresponsive, very high (>1000 x 109/L) or low (<100 x 109/L) platelet count
  • Steadily increasing WBC count
  • >20% basophils
Blast phase
  • >20% blasts
  • High myeloid:erythroid ratio (50:1)
  • <20% blasts during chronic phase
  • Dysplastic development of megakaryocytes or granulocytes during accelerated phase
  • Fibrosis during the blast phase
  • Philadelphia chromosome
  • BCR-ABL1 fusion gene
  • Development of additional genetic abnormalities during accelerated phase
Serum uric acid and lactate dehydrogenase are often increased due to the rapid cell turnover.
CML is associated with an eventual transformation into acute myelogenous leukemia (AML) or acute lymphoblastic leukemia (ALL).

Chronic neutrophilic leukemia (CNL)
  • Elevated neutrophil count (80% or more of WBCs)
  • <10% immature granulocytes
  • <1% blasts
  • Hypercellular
  • Dysplasia and fibrosis usually not present
  • CSF3RT618I or other activating CSF3R mutation
  • Diagnosis is still permitted in the absence of this mutation if neutrophilia is present for three months with no identifiable cause or if another clonal finding is identified.
CSF3R encodes the receptor for colony-stimulating factor 3, a cytokine that controls the production, differentiation, and function of granulocytes.
Chronic eosinophilic leukemia (CEL)
  • WBC count >30 x 109/L
  • 30-70% of WBCs are eosinophils
  • Fibrosis is common
  • Increased eosinophils
  • No single or specific genetic abnormality has been identified
Rare subtype of hypereosinophilic syndrome.
To make a diagnosis of CEL, there should be evidence for clonality of the eosinophils or an increase in blasts in the blood or bone marrow.
Essential thrombocytosis (ET)
  • Platelet count typically >600 x 109/L, often >1000 x 109/L
  • Giant, bizarre platelets
  • Platelet clumps
  • Megakaryocytes
  • WBC and RBC counts may also be elevated
  • Hypercellular
  • Overproliferation of megakaryocytes
  • Giant megakaryocytes
  • Clusters of megakaryocytes
  • Other dysplastic megakaryocytic changes
  • JAK2(V617F) mutation in about half of cases
  • CALR and MPL mutations are also major findings
Other findings include:
  • Normal or slightly increased thrombopoietin
  • Usually normal prothrombin time (PT) and activated partial thromboplastin time (aPTT)
  • Platelet aggregation: abnormal with adenosine diphosphate, epinephrine, and collagen
  • Increased serum cobalamin, uric acid, LD, acid phosphatase

Primary myelofibrosis (PMF)
  • Immature WBCs
  • Immature RBCs
  • Abnormal RBC morphology: Teardrop cells
  • Normocellular or hypocellular
  • Moderate to marked fibrosis
  • JAK2(V617F) mutation in about 60% of cases
  • MPL and CALR are mutations also found
Extramedullary hematopoiesis occurs due to fibrin hindering normal functioning of the bone marrow.
    Splenomegaly is a common and important finding.
    Bone marrow aspiration may be unsuccessful ("dry tap") due to fibrous tissue blocking access to blood in the bone marrow cavity.
      Polycythemia vera (PV)
      • RBC count >6.0 x 1012/L
      • Hemoglobin >16.5 g/dL (males); >16.0g/dL (females)
      • Hematocrit >52% (males); >48% (females)
      • WBC count >12.0 x 109/L
      • Platelet count >450 x 109/L
      • Hypercellularity
      • Prominent erythroid, granulocytic, and megakaryocytic proliferation
      • Bone marrow morphology is a major diagnostic criterion along with JAK2(V617F) or exon 12 mutation.
      A patient may still be diagnosed with PV if the patient meets the previously established hemoglobin threshold of 18.5 g/dL in men or 16.5 g/dL in women and shows a JAK2 mutation, as well as a decreased serum erythropoietin level.
        Myeloproliferative neoplasm, unclassifiable (MPN-u)
        • WBC and platelet counts typically increased
        • RBC counts variable
        • Increased megakaryocyte proliferation
        • Variable hypercellularity in granulocytic or erythrocytic cell lines
        • Increasing bone marrow fibrosis can occur with the progression of the disease
        • No defined cytogenetic abnormalities
        MPN-u may actually be a very early stage or a very late transformational stage of one of the other MPNs listed above.
          *leukocyte alkaline phosphatase