AML1/ETO (RUNX1/RUNX1T1) Translocation, Dual Fusion
- AML1, 21q22.12, Red
- ETO, 8q21.3, Green
The AML1 probe mix, labelled in red, consists of a 156kb probe centromeric to the AML1 (RUNX1) gene, including the CLIC6 gene and a 169kb probe covering the telomeric end of the AML1 (RUNX1) gene and extending beyond the marker D21S1921. The ETO probe mix, labelled in green, consists of the two probes, 151kb and 194kb, on either side of the ETO (RUNX1T1) gene.
AML1 (RUNX1 - Runt related Transcription Factor 1) is fused with ETO (RUNX1T1) in the t(8;21)(q21;q22) translocation, found most commonly in AML M2 patients and less frequently in subgroups M1 and M41.
Overall, 7% of AML cases demonstrate the abnormality, the majority of which are de novo1. Additional abnormalities occur in around 80% of cases - these may be loss of a sex chromosome, del(9q), trisomy 8 or monosomy 71. Three-way variants of this rearrangement, along with the t(3;21) (AML1/EVI1, also known as RUNX1/MECOM) show that juxtaposition of AML1 to the derivative chromosome is consistent and therefore the critical part of the rearrangement2,3.
AML1 is the most common target for translocations in acute myeloid leukaemia. The breakpoint mainly occurs in the intron between exons 5 and 6 just before the transactivation domain. The fusion proteins created contain the DNA-binding domain of AML1 fused to the transcription factors ETO or EVI1 (on chromosomes 8 and 3 respectively)1. These abnormalities can give rise to tumourigenic growth through a number of different mechanisms.
Not only do Cytocell offer an extensive range of high-quality FISH probes, the customer support is also excellent — providing fast access to all the probes I need. The probes are highly consistent with bright signals allowing easy scoring of results. Dr Eric Crawford, Senior Director, Genetics Associates Inc.
1. Huret JL. t(8;21)(q22;q22). Atlas Genet Cytogenet Oncol Haematol. September 1997
2. Nucifora G et al., Blood 1995;86(1):1-14
3. Heim and Mitelman, Willey-Liss, Inc. 1995
- Area of Interest*
This product is intended to be used on Carnoy’s solution (3:1 methanol/acetic acid) fixed haematological samples.
*Disease information supported by the literature and is not a reflection of the intended purpose of this product.