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.

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)

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

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

• 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.