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Chronic Lymphocytic Leukemia (CLL) Profile

p53 del 17p13.1, ATM del 11q22.3, del 13q14.3/ del 13q34, +12, MYB del 6q

F CLL

Test Synonym:

CLL

Associations:

Chronic Lymphocytic Leukemia

CPT Code:

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

Turnaround Time:

3 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:

    Leukemias are a diverse group of diseases that are often characterized by multiple genetic aberrations distributed across the genome. In some cases, the same genetic aberrations are shared by different types of leukemia. Fluorescence in situ hybridization has improved the detection of genomic aberrations in chronic lymphocytic leukemia. Chromosomal aberrations are detected in approximately 82% of patients. The most frequent changes are deletion 13q (55%), deletion 11q (18%), trisomy 12 (16 %), deletion 17p (7%) and deletion 6q (6%). FISH can detect these abnormalities in either interphase or metaphase cells.

    References:

    1. Dohner et al. (2000). NEJM 343:1910
    2. Montserrat. (2002) The Hematology Journal 3:7
    3. Pettitt, A.R., et al. (2001) Blood 98 (3): 814-822.
    4. Stilgenbauer, S., et al. (2002):Leukemia 16 (6) 993-1007