XL JAK2 BA

Break Apart Probe

Order Number
D-5098-100-OG
Package Size
100 µl (10 Tests)
Labels
  
Chromosome
9

Description

XL JAK2 BA

XL JAK2 BA consists of an orange-labeled probe hybridizing proximal to the JAK2 gene region at 9p24 and a green-labeled probe hybridizing distal to the JAK2 gene region at 9p24.

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

Patients with clinical characteristics of chronic myelogenous leukemia (CML) lacking a BCR/ABL fusion gene are usually referred to as having atypical CML. Most commonly, diverse tyrosine kinase genes such as the receptors FGFR1, PDGFRA, or PDGFRB are involved. In addition, the Janus (tyrosine) kinases (JAK) can be deregulated in leukemia/lymphoma by copy number alterations, mutations and chromosomal translocations.

Chromosomal translocations targeting JAK2 are rare but recurrent abnormalities in myeloproliferative neoplasms, acute myeloid leukemia, acute lymphoblastic leukemia and lymphoma. In cell line models and primary patient material, it could be shown that treatment with ruxolitinib has significant activity against JAK2 activated by gene rearrangement and presents evidence for potential activity against cells with JAK2 amplification.

Clinical Applications

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

XL JAK2 BA

XL JAK2 BA hybridized to lymphocytes. Two normal interphases are shown.

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Expected Patterns

Expected Pattern 1

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

Expected Pattern 2

Aberrant Cell (typical results):
One green (1G), one orange (1O), and one green-orange (1GO) fusion signal, indicating a chromosome break in the JAK2 locus.

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Literature

  • Bousquet et al (2005) Oncogene 24:7248-7252
  • Chase et al (2012) Haematologica 93:404-408
  • Ehrentraut et al (2013) PLOSone 8:e53767

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