Myeloproliferative neoplasm laboratory findings

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Mohamad Alkateb, MBBCh [2] Shyam Patel [3]

Overview

Laboratory findings associated with the diagnosis of myeloproliferative neoplasm include leukocytosis, thrombocytopenia, and anemia.

Laboratory Findings

Laboratory findings associated with myeloproliferative neoplasm include:

• Complete blood count

• Increased granulocytes of all types
• Increased basophils and eosinophils
• Thrombocytopenia or thrombocythemia
• Anemia or polycythemia

• Blood chemistry

• The following blood levels may be elevated:

• Blood urea nitrogen (BUN)
• Creatinine
• Phosphate
• Lactate dehydrogenase (LDH)
• Alanine aminotransferase (ALT)
• Aspartate transaminase (AST)
• Uric acid

• Bleeding and clotting factors

• The following blood parameters may be elevated:

• Prothrombin time (PT) or international normalized ratio (INR)
• Partial thromboplastin time (PTT)
• D-dimer

• Flow cytometry

• Flow cytometry helps determine the type of cells that are present.

• Cytogenetics or karyotyping

• Chromosome changes that may occur in some people with leukemia include:

• Translocations
• Inversions
• Loss or gain of a chromosome number

• Fluorescent in situ hybridization (FISH)

• Similar to cytogenetics, but more specific for particular chromosomal translocations

• Polymerase chain reaction

• Helpful to detect specific abnormalities in blood or bone marrow cells. Abnormalities can be found even if very few leukemia cells are present in a tissue sample.

• Neutrophil alkaline phosphatase level
• Vitamin B12 (or B12 binding capacity)
• Erythropoietin level
• Molecular testing for JAK2, CALR, and 'MPL mutations

Gallery

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  Representative Philadelphia negative metaphase bone marrow cell with a t(9;12)(q34;p13) translocation. (a) G-banded karyotype; (b) FISH analysis demonstrates lack of BCR-ABL1 fusion but reveals a small third signal from the ABL1 probe (arrow) and; (c) The ETV6 split signal (arrowed in red) on der(9)t(9;12) from the break-apart FISH probe shows the gene rearrangement and confirms G banding results. The red/green fusion signal marks the normal gene.