XL ETV6 consists of an orange-labeled probe hybridizing proximal to the ETV6 gene region at 12p13.2 and a green-labeled probe hybridizing distal to the ETV6 gene region at 12p13.2.

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.

The ETV6 gene, located on 12p13.2, is involved in numerous translocations found in myeloid and lymphoid malignancies. Two mechanisms are common: fusion to a tyrosine kinase resulting in a constitutively active tyrosine kinase and fusions to transcription factors driving aberrant expression of target genes. The frequent translocation t(12;21)(p13;q22) results in the formation of the chimeric transcription factor ETV6-RUNX1 which can be identified in about 25% of childhood B-cell acute lymphoblastic leukemia (B-ALL) cases. ETV6-RUNX1 causes expansion of B-cell precursors with impaired ability of differentiation to mature B-cells. Another important aberration is t(5;12)(q33;p13), found in chronic myelomonocytic leukemia (CML) and myeloproliferative diseases, resulting in the fusion of ETV6 with the receptor tyrosine kinase PDGFRB. The resulting oncogene is sensitive to the kinase inhibitor imatinib. t(7;12)(q36;p13) can be identified in pediatric acute myeloid leukemia (AML) and acute lymphoblastic leukemia (ALL) and is resulting in the fusion gene MNX1-ETV6.

Besides hematological malignancies, ETV6 is also involved in the development of the pediatric congenital mesoblastic nephroma and fibrosarcoma. t(12;15)(p13;q25) fuses ETV6 to the tyrosin receptor kinase NTRK3 resulting in the ETV6-NTRK3 fusion gene, a constitutively active tyrosine kinase.

Clinical Applications

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

XL ETV6 hybridized to lymphocytes. One normal interphase and metaphase are shown.

• Lierman and Cools (2007) Haematologica 92:145-147
• Adem et al (2001) Mod Pathol 14:1246-1251
• Naiel et al (2013) Cancers 5:281-295

• 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.