TEL/AML1 (ETV6/RUNX1) Translocation, Dual Fusion
The TEL (or ETV6 - Erythroblastosis Variant Gene 6 translocation, ETS) / AML1 (or RUNX1 - Runt-Related Transcription Factor 1) fusion is brought about by the cytogenetically invisible t(12;21) translocation.
This is the most common rearrangement in childhood B-ALL and has been detected using FISH in around 17% of cases1, compared to a pick-up rate of 0.05% by conventional cytogenetics2. The translocation is associated with a favourable outcome and has been associated with late relapse3. TEL has also been shown to be deleted in some children with ALL with loss of heterozygosity (LOH) of chromosome 12p12-13 and this deletion is often associated with a TEL/AML1 translocation4. Both the TEL and AML1 genes encode transcription factors and TEL has been shown to be required for proper transcription during haematopoiesis within the bone marrow5.
1. Jamil et al., Cancer Genet Cytogenet 2000;122(2):73-8
2. Borkhardt et al., Blood. 1997 Jul 15;90(2):571-7
3. Mosad et al., Journal of Hematology & Oncology 2008;1:17
4. Raynaud et al., Blood 1996;87(7):2891-9
5. Wang et al., Genes Dev. 1998 Aug 1;12(15):2392-402
- 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.