• Test Code:
    4206
  • Department:
    Hematological Malignancies
  • Test Synonyms:
    KIT (cKIT) Mutation Screening for Acute Myelogenous Leukemia (exons 8 & 17)
  • CPT Code(s):
    81404
Background:

Oncogenic KIT gene mutations are present in a subset of acute myelogenous leukemias with inv16 or a translocation involving AML-1 (e.g. t[8;21]).1,2 The mutations occur most commonly in exons 17 and 8 of the KIT gene, but the relative frequency varies somewhat among different studies. Cases with exon 17 mutations have a significantly worse prognosis. 

Methodology:

DNA is extracted and purified from either fresh marrow aspirate or paraffin-embedded tissue. KIT gene exons 8 and 17 are screened by a combination of real-time PCR and high resolution melting curve analysis. All suspected mutations are confirmed by direct DNA sequencing.   It should be noted that samples in which the tumor cells represent less than 30% of the total cell population may yield false negative results

Specimen Requirements:

Paraffin blocks or unstained slides:

    • A paraffin block, or
    • 10 unstained sections of tumor (4-5 microns) (15 sections for small biopsies

    • Due to DNA damage, decalcified specimens are not recommended.

Contact Client Services for shipping materials and procedures at (855) 535-1522.

Blood or bone marrow:

    • 2-10 mL Yellow (ACD) or purple (EDTA) tube (unspun)
    • Bone marrow aspirates or cores are acceptable if received in the lab within 24 hours (room temperature) or 4 days (refrigerated; never frozen).
    • Frozen cell pellets of bone marrow-derived leukocytes (without red blood cells) are also acceptable.

Deliver to lab at shipping address above within 24 hours of collection;  if sample cannot arrive within 24 hours, refrigerate until sample can be transported. 

A REQUISITION FORM MUST ACCOMPANY ALL SAMPLES.  Please include detailed clinical information.

Test Performed (Days):

Mon – Fri

Turn Around Time:

7-10 days

Shipment Sensitivity Requirements:

  • Package and ship specimen to remain cool during transit, but not frozen, unless shipping frozen pellets.
  • Please the use the cold pack provided in the KDL shipping kit.
  • Ship the specimen via overnight express, using the FedEx priority overnight label provided. 
  • Contact Client Services for shipping materials and procedures at (855) 535-1522.

References:

  1. Cairoli R, Beghini A, Grillo G, Nadali G, Elice F, Ripamonti CB, Colapietro P, Nichelatti M, Pezzetti L, Lunghi M, Cuneo A, Viola A, Ferrara F, Lazzarino M, Rodeghiero F, Pizzolo G, Larizza L, Morra E   Prognostic impact of c-KIT mutations in core binding factor leukemias: an Italian retrospective study. Blood. 2006 May 1;107(9):3463-8.
  2. Paschka P, Marcucci G, Ruppert AS, Mrozek K, Chen H, Kittles RA, Vukosavljevic T, Perrotti D, Vardiman JW, Carroll AJ, Kolitz JE, Larson RA, Bloomfield CD; Cancer and Leukemia Group B. Adverse prognostic significance of KIT mutations in adult acute myeloid leukemia with inv(16) and t(8;21): a Cancer and Leukemia Group B Study. J Clin Oncol. 2006 Aug 20;24(24):3904-11.

Additional Info:

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