E2A (TCF3) Breakapart
Translocations involving the E2A (TCF3: Transcription Factor 3) gene are some of the most common rearrangements in childhood B-ALL, specifically B-cell precursor ALL1.
The two main partner genes are PBX1 and HLF (on chromosomes 1 and 17 respectively) which become fused to E2A as a result of the t(1;19) and t(17;19) translocations, forming the E2A/PBX1 and E2A/HLF fusion proteins. Other translocation partners have also been detected.
The t(1;19) is the most common E2A rearrangement, being present in around 5% of B-ALL and 20% of pre B-ALL2, whilst the t(17;19) is present in around 1% of all ALL cases3. Both are historically associated with a poor outcome, though treatment therapies have overcome this in the case of the t(1;19)4. Detection of the t(1;19) is best carried out using molecular methods, such as FISH, as the fusion has been shown to be missed in 20 to 25% of patients by standard cytogenetics5. Similarly, other E2A translocations have been shown to be cytogenetically cryptic6.
1. Barber et al., Genes Chromosomes Cancer. 2007 May;46(5):478-86
2. Alonso CN. t(1;19)(q23;p13) TCF3/PBX1. Atlas Genet Cytogenet Oncol Haematol. July 2012
3. Viguié F . t(17;19)(q22;p13). Atlas Genet Cytogenet Oncol Haematol. May 1999
4. Felice et al., Leuk Lymphoma. 2011 Jul;52(7):1215-21
5. Izraeli et al., Leukemia 1993;7(5):671-8
6. Huret JL. TCF3 (transcription factor 3 (E2A immunoglobulin enhancer binding factors E12/E47)). Atlas GenetCytogenet Oncol Haematol. January 2012
- 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.