E2A/PBX1 Translocation, Dual Fusion
- E2A, 19p13.3, Green
- PBX1, 1q23.3, Red
The E2A probe, labelled in green, contains two probes (110kb and 146kb) that cover the 3’ end of the E2A (TCF3) gene and flanking region and a 321kb probe that covers a region 5’ (centromeric) to the gene. The PBX1 probe, labelled in red, contains two probes (147kb and 110kb) that map within the PBX1 gene and a 117kb probe that maps 3’ (telomeric) to the gene.
The E2A (TCF3) gene is involved in recurrent rearrangements in childhood Acute Lymphoblastic Leukaemia (ALL)1. Two known partner genes are the Pre-B-cell Leukaemia Homeobox 1 gene (PBX1, chromosome 1q23.3) and the Hepatic Leukaemia Factor gene (HLF, chromosome 17q22), which become fused to E2A as a result of translocations, forming the E2A/PBX12and E2A/HLF fusion proteins, respectively3.
The 2011 Acute Lymphoblastic Leukaemia Best Practice Guidelines state that “when TCF3 ‘breakapart’ FISH identifies a rearrangement, it is important to distinguish between t(17;19)(q22;p13) and t(1;19)(q23;p13), the former translocation being associated with adverse prognosis”4.
Cytocell provides a range of probes that allow flexibility in screening for E2A (TCF3) rearrangements: the E2A (TCF3) Breakapart probe (LPH 019), the E2A/PBX1 Translocation, Dual Fusion probe (LPH 079) and the E2A/PBX1/HLF Translocation, Dual Fusion probe (LPH 080), a 3 colour probe that allows both E2A/PBX1 and E2A/HLF fusions to be detected.
In our hands, Cytocell FISH probes, have proven to be of the highest quality with bright, easy to interpret signals, thus providing confidence in our results. Cytocell’s customer support is outstanding, as their staff are extremely knowledgeable and truly care about their customers and their customers’ needs. Jennie Thurston, Director of Cytogenetics at Carolinas Pathology Group
1. LeBrun. Front Biosci. 2003 May 1;8:s206-22
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. Professional Guidelines for Clinical Cytogenetics: ACUTE LYMPHOBLASTIC LEUKAEMIA BEST PRACTICEGUIDELINES (2011) V1.00. www.cytogenetics.org.uk
- 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.