XL BCR/ABL1/ASS

Deletion/Dual Fusion Probe

Order Number
D-5082-100-TC
Package Size
100 µl
Labels
   
Chromosomes
922

Description

XL BCR/ABL1/ASS

The XL BCR/ABL1/ASS probe is specific for the t(9;22). The orange labeled probe hybridizes to an extended region at the ABL1 locus on 9q34 and a green labeled probe hybridizes specifically to extended regions at the BCR gene on 22q11. A blue (aqua) labeled probe hybridizing to the ASS1 (formerly ASS) region is added to analyse deletions at 9q34 which can be associated with t(9;22).

Clinical Details

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 treatments in patients receiving tyrosine kinase inhibitors.

Clinical Applications

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

Images

XL BCR/ABL1/ASS

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

Expected Patterns

Expected Pattern 1

Normal Cell:
Two blue-orange (2BO) fusion signals and two separate green signals (2G).

Expected Pattern 2

Aberrant Cell (typical results):
One blue-orange (1BO), one green (1G), one blue-green-orange (1BGO) and one green-orange (1GO) fusion signal.

Expected Pattern 3

Aberrant Cell (typical results):
One blue-orange (1BO), two green (2G), and one green-orange (1GO) fusion signal, indicating a deletion at 9q34 in addition to a t(9;22).

Literature

  • 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

Downloads

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