XL ETV6 BA 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 extending into the 5´gene region.

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 (ETS variant gene 6) located on 12p13.2 codes for a transcription factor which is involved in a variety of rearrangements. Several potential mechanisms of ETV6-mediated leukemogenesis are discussed including deletions and translocations. Numerous translocations and partner genes have been identified so far. The mechanisms well described are 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. The t(5;12)(q33;p13) translocation fuses ETV6 to the receptor tyrosine kinase PDGFRB (ETV6::PDGFRB). The t(9;12)(q34;p13) ETV6::ABL1 has been included in the 5th edition of the WHO Classification of Haematolymphoid Tumours in the disease type myeloid/lymphoid neoplasms with eosinophilia and tyrosine kinase gene fusions (MLN-TK). The study by Haferlach et al confirms the variety of ETV6 rearrangements in acute myeloid leukemia (AML), myelodysplastic neoplasms (MDS), and MPNs, which have been shown to be associated with other genetic events. The recurrent translocation 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.

XL ETV6 BA is a further developed version of XL ETV6 (D-5073-100-OG), featuring a new, partially ETV6 gene covering design, extending into the 5´-region of the ETV6 gene.

Clinical Applications

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

• Haferlach et al (2012) Genes Chromosomes Cancer 51(4):328-337
• De Braekeleer et al (2012) Leukemia Research 36:945-961
• Naiel et al (2013) Cancers 5:281-295
• Khoury et al (2022) Leukemia 36:1703–1719

• 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.