XL ABL1 BA

Break Apart Probe

Order Number
D-5148-100-OG
Package Size
100 µl (10 Tests)
Labels
  
Chromosome
9
Regulatory Status
IVDD

IVDR Certification

MetaSystems Probes has already certified a large part of its portfolio, according to IVDR. For organizational reasons, we currently provide only the IVDD product.

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Product Description

XL ABL1 BA

XL ABL1 BA consists of a green-labeled probe hybridizing proximal to the ABL1 gene region at 9q34.1 and an orange-labeled probe hybridizing distal to the ABL1 gene region at 9q34.1.

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

Acute lymphoblastic leukemia (ALL) is the most common malignancy in children with a prevalence of approximately 1:1500. Children with Down syndrome have a 10- to 20-fold increased risk of developing acute leukemia (B-cell precursor-ALL, acute myeloid leukemia, and particularly acute megakaryoblastic leukemia).
In 2017, the WHO recognized BCR-ABL1-like ALL, a subtype of B-lymphoblastic leukemia/lymphoma, as a new entity. BCR-ABL1-like ALL, also known as Philadelphia chromosome (Ph)-like ALL, is found in 10-20% of childhood and in 20-30% of all adult B-cell dependent ALL cases. BCR-ABL1-like ALL is characterized by a gene expression profile sharing significant overlap with that of Ph-positive (Ph+) ALL. In contrast to Ph+ ALL, defined by the presence of the BCR-ABL1 fusion resulting from t(9;22)(q34;q11), BCR-ABL1-like cases include a variety of genomic alterations enhancing kinase and cytokine receptor signaling.
Prominent genes involved in the pathogenesis of BCR-ABL1-like ALL are CRLF2, EPOR, JAK2, ABL1, ABL2, CSF1R and PDGFRB. The already known heterogenous 5' fusion partners of ABL1 are CENPC, ETV6, FOXP1, LSM14A, NUP153, NUP214, RANBP2, RCSD1, SFPQ, SNX1, SNX2, SPTAN1 and ZMIZ1. The kinase domain of ABL1 is present in all identified chimeric fusion proteins.

Clinical Applications

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

XL ABL1 BA

XL ABL1 BA hybridized to lymphocytes. Two normal interphases and one metaphase are shown.

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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

  • Tasian et al (2017) Blood 130:2064-2072
  • Conant and Czuchlewski (2019) Int J Lab Hematol 41 Suppl 1:126-130
  • Jain and Abraham (2019) Arch Pathol Lab Med:doi:10.5858/arpa.2019-0194-RA

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News

IVDR Certification

MetaSystems Probes has received IVDR certification for our initial 26 fluorescence in situ hybridization (FISH) probes from the notified body, BSI. Achieving this milestone was not without its challenges, and we are delighted to have accomplished IVDR certification for this probe set at an early stage.

IVDR Certification

New Probes Catalog is Online!

 

MetaSystems Probes is pleased to announce the new catalog including new and innovative products and supporting information. A PDF version of the new catalog is available for download here.

New Probes Catalog is Online!