Nucleophosmin (NPM1) Mutation Analysis

CPT CODE:

  • "HPGDE, DNA Extraction"
  • 83891
  •  
  • "Nucleophosmin (NPM1) Mutation Analysis"
  • 83898/Amplification, target, each nucleic acid sequence
  • 83909/Separation and identification by high-resolution technique
  •  

    USEFUL FOR:

    As a prognostic indicator in patients with newly diagnosed AML with normal karyotype and no FLT3 mutation.

    SPECIMEN REQUIRED:

    Submit only 1 of the following specimens:
    BloodDraw blood in a lavender-top (EDTA) tube(s) or a yellow-top (ACD [solution B]) tube(s), and send 3 mL of EDTA or ACD (solution B) whole blood in original VACUTAINER(S). Invert several times to mix blood. Forward unprocessed whole blood promptly at ambient temperature.Note:    1. The following information is required on request form for                  processing:                 A. Pertinent clinical history                 B. Clinical or morphologic suspicion                 C. Draw date                 D. Specimen source (blood)             2. Label specimen appropriately (blood).           3. If ordering electronically, please complete and submit                 a "MayoConnect Additional Test Information Form"                 (Supply T357) with the specimen. If not ordering electronically,                  please complete and submit "Hematopathology/Molecular                  Oncology Request Form" (Supply T241) with the specimen.
    Bone MarrowPlace 2 mL of bone marrow in a lavender-top (EDTA) tube(s) or a yellow-top (ACD [solution B]) tube(s) and send in originalVACUTAINER(S). Invert several times to mix bone marrow.Forward unprocessed bone marrow promptly at ambient temperature.Note:    1. The following information is required on request form for                  processing:                 A. Pertinent clinical history                 B. Clinical or morphologic suspicion                 C. Collection date                 D. Specimen source (bone marrow)             2. Label specimen appropriately (bone marrow).           3. If ordering electronically, please complete and submit                 a "MayoConnect Additional Test Information Form"                 (Supply T357) with the specimen. If not ordering electronically,                  please complete and submit "Hematopathology/Molecular                  Oncology Request Form" (Supply T241) with the specimen.
    Extracted DNA from Blood or Bone marrowSubmit specimen in a 1.5 mL to 2 mL tube with indication of volumeand concentration of the DNA.Note:    1. The following information is required on request form

    TRANSPORT TEMPERATURE:

    Ambient\Refrig OK\Frozen NO

    CLINICAL INFORMATION:

    Acute myelogenous leukemia (AML) is a heterogenous group of neoplasms. While cytogenetic aberrations detected at the time of diagnosis are the most commonly used prognostic feature, approximately 20% of AML cases show a normal karyotype, which is considered an intermediate-risk feature. Within this group, FLT3 mutations are considered indicators of poor prognosis. However, in the absence of a FLT3 mutation, the presence of a nucleophosmin (NPM1) mutation is associated with good prognosis. Thus, in patients with newly diagnosed AML, those with normal karyotype, no FLT3 mutation, and a NPM1 mutation are considered to have a better prognosis than patients in the same group with neoplasms lacking a NPM1 mutation.

    CLINICAL INTERPRETATION:

    The assay will be interpreted as positive or negative for the NPM1 mutation. In patients with newly diagnosed AML, a normal karyotype, and no FLT3 mutation, the presence of NPM1 mutation is an indicator of good prognosis.

    REFERENCE VALUES:

    An interpretive report will be provided