XL BCR/ABL1/ASS consists of an aqua-labeled probe hybridizing to the ASS1 gene region at 9q34.1, an orange-labeled probe hybridizing to the ABL1 gene region at 9q34.1 and a green-labeled probe hybridizing to the BCR gene region at 22q11.2.

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.

Chronic myelogenous leukemia (CML) is genetically characterized by the presence of the reciprocal translocation t(9;22)(q34;q11), resulting in a BCR/ABL1 gene fusion on the derivative chromosome 22, called the Philadelphia (Ph) chromosome. The same translocation can also be found in acute myeloid leukemia (AML) and acute lymphocytic leukemia (ALL) with some variation in the breakpoint region. Glivec^® (imatinib mesylate) treatment targeting the BCR/ABL1 active tyrosine kinase has become a major drug in treating CML, gastrointestinal stromal tumors, and other cancers.

Deletions at the t(9;22) breakpoint regions, found in 5% of CML patients with a Ph translocation, have been associated with resistance to treatment in patients receiving tyrosine kinase inhibitors.

Clinical Applications

• Chronic Myelogenous Leukemia and Myeloproliferative Neoplasms (CML/MPN)
• Acute Lymphoblastic Leukemia (ALL)
• Acute Myelogenous Leukemia (AML)

XL BCR/ABL1/ASS hybridized to lymphocytes. One normal metaphase is shown.

• Dewald et al (1998) Blood 91:3357-3365
• DeMelo et al (2008) Canc Genet Cytogenet 182:111-115
• Luatti et al (2012) Blood 120:761-767

• 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.