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.

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)

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.

• 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

• Utility and performance of bacterial artificial chromosomes-on-beads assays in chromosome analysis of clinical prenatal samples, products of conception and blood samples.
• A child with multiple congenital anomalies due to partial trisomy 7q22.1 → qter resulting from a maternally inherited balanced translocation: a case report and review of literature.
• Distinct roles of ATM and ATR in the regulation of ARP8 phosphorylation to prevent chromosome translocations.
• Heterogeneous MYCN amplification in neuroblastoma: a SIOP Europe Neuroblastoma Study.
• Immense random colocalization, revealed by automated high content image cytometry, seriously questions FISH as gold standard for detecting EML4-ALK fusion.
• Fluorescence in situ hybridisation assays designed for del(7q) detection uncover more complex rearrangements in myeloid leukaemia cell lines
• Detection of t(7;12)(q36;p13) in paediatric leukaemia using dual colour fluorescence in situ hybridisation.
• A rare case of t(11;22) in a mantle cell lymphoma like B-cell neoplasiaresulting in a fusion of IGL and CCND1: case report.
• Genomic DNA-chip hybridization in t(11;14)-positive mantle cell lymphomas shows a high frequency of aberrations and allows a refined characterization of consensus regions.