ZytoLight ® SPEC ETV6/RUNX1 Dual Color Dual Fusion Probe

 The ZytoLight ® SPEC ETV6/RUNX1 Dual Color Dual Fusion Probe is designed for the detection of the specific translocation involving the chromosomal region 12p13.2 harboring the ETV6 (ETS variant gene 6, a.k.a. TEL) gene and the chromosomal region 21q22.12 harboring the RUNX1 (runt-related transcription factor 1, a.k.a. AML1) gene. The balanced chromosomal translocation t(12;21)(p13.2;q22.1), which leads to ETV6/RUNX1 fusion, represents the most frequent genetic rearrangement in initial childhood B-cell precursor (BCP) acute lymphoblastic leukemia (ALL) (19-27%) and has been associated with good prognosis. The ETV6/RUNX1 fusion protein, comprising a putative repressor domain of ETV6, a member of the ETS family of transcription factors, fused to RUNX1, the DNA-binding subunit of the RUNX1/CBF beta transcription factor complex, acts as a trans-dominant repressor of RUNX1 regulated target genes involved in hematopoiesis. Three secondary aberrations in ETV6/ RUNX1 positive ALL have been found to negatively influence the clinical course: deletion of the second non-translocated ETV6 allele, gains of the RUNX1 gene, and duplication of the derivative chromosome 21. Detection of t(12;21) by Fluorescence in situ Hybridization enables the simultaneous identification of the most common secondary changes and thus provides additional information about the possible outcome of the disease in patients with ALL