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FLT3 mutation analysis

FLT3

Test Synonym:

FLT3 gene, ITD mutation, D835, D836 missense mutations

CPT Code:

83891 - Isolation or extraction of highly purified nucleic acid
83898 x2 - Amplification of patient nucleic acid, singleprimer pair, each primer pair
83892 - Enzymatic digestion
83909 x3 -Separation and identification by capillary electrophoresis
83912-26 - interpretation and report

Turnaround Time:

Reported within 3 days

Methodology:

Polymerase chain reaction and capillary gel electrophoresis

Specimen Requirements:

  • 5mL (min. 3mL) EDTA or ACD whole blood
  • 3mL (min. 1mL) EDTA or ACD bone marow

    • Causes for Rejection:

  • Improper specimen labeling
  • Insufficient sample volume
  • Clotted specimen
  • Specimen older than 7 days

    • Specimen Stability:

    18°-25° C for 72 hrs; 4° C for up to 7 days

    Storage and Handling:

    Ship at ambient temperature; cool in summer (do not allow ice pack to directly contact sample)

    Reference Range:

    Internal tandem duplication (ITD) or missense (D835) mutations detected / not detected

    Indication:

    The most frequent genetic alteration reported in acute myeloid leukemia (AML) is activating mutation of the transmembrane receptor tyrosine kinase 3 gene or FLT3.1 Acquired FLT3 mutations occur in ~30% of adult AML, ~20% of pediatric AML, and to a lesser extent (less than 5%) in acute lymphoid leukemia (ALL) and myelodysplastic syndrome (MDS). 2, 3, 4, 5 To identify evidence of FLT3 mutations,

    Molecular Pathology Laboratory Network Inc. (MPLN) offers the FLT3 assay as a screening for all acute leukemia patients.
    The FLT3 screening test simultaneously detects internal tandem duplication (ITD) and missense (D835) mutations in the FLT3 gene. FLT3 mutations are associated with a poor prognosis and overall survival in patients with AML, ALL and MDS who receive conventional chemotherapy.1, 6

    References:

    1. Kiyoi, H, and Naoe, T. (2006) Biology, clinical relevance, and molecularly targeted therapy in acute leukemia with FLT3 mutation. Int J Hematol 83(4):301-308.
    2. Gilliland, DG, and Griffin, JD. (2002) The roles of FLT3 in hematopoiesis and leukemia. Blood 100(5):1532-1542.
    3. Kiyoi, H, et al., (2005) Clinical significance of FLT3 in leukemia. Int J Hematol 82(2):85-92.
    4. Meshinchi, S. et al., (2006) Clinical implications of FLT3 mutation in pediatric AML. Blood 108(12):3654-3661.
    5. Yamamoto, Y, et al. (2001). Activating mutation of D835 within the activation loop of FLT3 in human hematologic malignancies. Blood 97(8):2434-2439.
    6. Fohling, S, et al., (2005) Genetics of myeloid malignancies: pathogenetic and clinical implications. J Clin Oncol 23(26): 6285-6295.