XL JAK2 BA

Break Apart Probe

Order Number
D-5098-100-OG
Package Size
100 µl
Labels
  
Chromosome
9

Description

XL JAK2 BA

The XL JAK2 BA is designed as a break apart probe with two probes juxtaposed and differently labeled. An orange labeled probe hybridizes proximal, and a green labeled probe hybridizes distal to the breakpoint in 9p24.

Clinical Details

Patients with clinical characteristics of CML lacking a BCR/ABL fusion gene are usually
referred to as having atypical CML. Most commonly diverse tyrosine kinase genes 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)

Images

XL JAK2 BA

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

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.

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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