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Myeloproliferative Disorder (MPD )Profile

BCR/ABL 9q34 t(9;22), +8, del 13q14.3, del 20q12

F MPD

Test Synonym:

MPD

Associations:

Myeloproliferative disorder

CPT Code:

88367x6 – Morphometric analysis, in situ hybridization, automated
88368x6 – Morphometric analysis, in situ hybridization, manual

Turnaround Time:

2-4 days

Methodology:

Fluorescence in situ Hybridization (FISH)

Specimen Requirements:

  • 2.0 ml (min. 1.0 ml) peripheral blood in sodium heparin preferred, EDTA accepted
  • 1.0 ml (min. 0.5 ml) bone marrow in sodium heparin preferred, EDTA accepted
  • 5 mm3 fresh tissue in MPLN RPMI media
  • 3.0 ml (min. 2.0ml) FNA in MPLN RPMI media
  • 10% neutral buffered formalin fixed paraffin embedded tissue

    • Causes for Rejection:

    Clotted specimen; specimens exposed to extreme temperature; anticoagulant toxic to cells; insufficient number of cells; improper fixative

    Specimen Stability:

  • Peripheral blood and bone marrow stable at 18-25°C for 72 hours
  • Fresh tissue or FNA stable at 2-8°C for 72 hours

    • Storage and Handling:

    • Whole blood and bone marrow ship ambient

    • Fresh tissue, FNA or paraffin embedded tissue ship in a Styrofoam container with an ice pack (do not allow ice pack to directly contact sample)

    Reference Range:

    See report

    Indication:

    A group of pre-leukemic diseases, myeloproliferative disorders are characterized by a clonal expansion of one or more lineages of the myelo-erythroid series of which polycythaemia vera, essential thrombocythaemia and idiopathic myelofibrosis are the main malignant diseases formed.  30--40% of patients with polycythaemia vera and idiopathic myelofibrosis have chromosomal abnormalities and these indicate a poor prognosis, while patients with essential thrombocythaemia rarely have chromosomal abnormalities. Acquired changes seen at diagnosis include del(20q), del(13q), trisomy 8 and 9 and duplication of segments of 1q.

    The V617F mutation in the JAK2 gene has also been found in ~97% of patients with polycythemia vera, ~57% of patients with essential thrombocythemia and ~50% of patients with myelofibrosis. JAK2 is offered as a reflex test in "Philadelphia negative" (t[9;22]) chronic myeloproliferative disorders.

    References:

    1. Anthony J. Bench et al. 2001. Myeloproliferative disorders Best Practice & Research Clinical Haematology, Volume 14,:3, 531-551
    2. Baxter EJ et al. (2005). Acquired mutation of the tyrosine kinase JAK2 in human myeloproliferative disorders.  Lancet 365:1054-1061