XL CBFB

Break Apart Probe

Order Number
D-5092-100-OG
Package Size
100 µl (10 Tests)
Labels
  
Chromosome
16

Description

XL CBFB

XL CBFB consists of an orange-labeled probe hybridizing proximal to the CBFB gene region at 16q21-22 and a green-labeled probe hybridizing distal to the CBFB gene region at 16q22.

Probe maps are created in accordance with the intended purpose of the product. Solid colored bars do not necessarily indicate that the probe fully covers the indicated genomic region. Therefore, caution is advised when interpreting results generated through off-label use. Probe map details based on UCSC Genome Browser GRCh37/hg19. Map components not to scale. Further information is available on request.

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Clinical Details

Several recurrent balanced translocations and inversions, and their variants, are recognized in the WHO category acute myelogenous leukemia (AML) with recurrent genetic abnormalities. Furthermore, several cytogenetic abnormalities are considered sufficient to establish the WHO diagnosis of AML with myelodysplasia-related features if 20% or more blood or marrow blasts are present.

The inv(16) and related t(16;16) are found in 10% of all cases of de novo AML. In these rearrangements, the core binding factor b (CBFB) gene on 16q22 is fused to the smooth muscle myosin heavy chain gene (MYH11) on 16p13. This cytogenetic group is usually associated with high complete remission rates and a relatively favorable outcome, especially when treated with repetitive cycles of high-dose cytarabine as consolidation therapy.

Clinical Applications

  • Acute Myelogenous Leukemia (AML)
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Images

XL CBFB

XL CBFB hybridized to bone marrow cells. One metaphase with split signals in one chromosome is shown, indicating a chromosome break in the CBFB locus.

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Expected Patterns

Expected Pattern 1

Normal Cell:
Two green-orange colocalization/fusion signals (2GO).

Expected Pattern 2

Aberrant Cell (typical results):
One green-orange colocalization/fusion signal (1GO), one separate green (1G) and orange (1O) signal each resulting from a chromosome break in the relevant locus.

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Literature

  • Doehner et al (2010) Blood 115:453-474
  • Froehling et al (2002) J Clin Oncol 20:2480-2485
  • Arber et al (2016) Blood 127:2391-2405

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