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TEL/AML1 (ETV6/RUNX1) Translocation, Dual Fusion

Applications
haematology
Catalogue Numbers
LPH 012-S (5 tests)
LPH 012 (10 tests)

Probe Specification

  • TEL, 12p13.2, Red
  • AML1, 21q22.12, Green

The TEL probe mix, labelled in red, contains a probe covering a 180kb region between the markers D12S845 and D12S89 and a second probe centromeric to the TEL (ETV6) gene, extending 168kb from the marker D12S1898. For AML1, there are two probes, labelled in green, one covering a 156kb region centromeric to the AML1 (RUNX1) gene, including the CLIC6 gene and a second probe covering a 169kb region, including the markers D21S1895 and D21S1921.

Probe Information

The cytogenetically-cryptic t(12;21)(p13;q22) translocation between ETV6 (ets variant 6) at 12p13 and RUNX1, (RUNX family transcription factor 1) at 21q22, results in the ETV6-RUNX1 chimeric fusion gene1.

The ETV6 and RUNX1 genes both encode transcription factors; ETV6 has been shown to be required for proper transcription during haematopoiesis within the bone marrow1,2. The ETV6-RUNX1 protein converts RUNX1 to a transcriptional repressor and causes overexpression of the erythropoietin receptor (EPOR) and activation of downstream JAK-STAT signaling1.

B-lymphoblastic leukaemia/lymphomas with t(12;21)(p13;q22) translocations form a recognised disease entity according to the World Health Organization (WHO) classification of myeloid neoplasms and acute leukaemia. This is the most common sub-group of childhood B-ALL accounting for about 25% of cases3. As the t(12;21)(p13;q22) translocation is cytogenetically-cryptic, FISH is an important diagnostic tool for this leukaemia4.

B-ALL with ETV6-RUNX1 is considered to have a favourable outcome with cure rates more than 90%3. Late relapses have been reported; these have been attributed to the presence of persistent preleukaemic clones that survived chemotherapy3,5.

ETV6 has also been shown to be deleted in some children with ALL, with loss of heterozygosity (LOH) of chromosome 12p12-13; these deletions often seen in the presence of ETV6-RUNX1 translocations6.

I am grateful for the excellent products I receive from Cytocell at a reasonable price, but more importantly the superb customer support.  The speed in which I receive answers or suggestions makes my life as a director much easier and allows me to focus on patient care.  The quality and consistency of Cytocell’s probes means I can trust the results, and my clients get their results in a timely manner. Dr. Theresa C. Brown, Director, Cytogenetics Laboratory, Hayward Genetics Center, Tulane University School of Medicine

References

  1. Mullighan, The Journal of Clinical 1. Investigation 2012;122(12):3407-3415
  2. Wang et al., Genes Dev 1998;12(15):2392-2402
  3. Swerdlow et al., (eds,) WHO Classification of Tumours of Haematopoietic and Lymphoid Tissue, Lyon, France, 4th edition, IARC,2017
  4. Borkhardt et al., Blood. 1997;90(2):571-577
  5. Mosad et al., Journal of Haematology & Oncology 2008;1:17
  6. Raynaud et al., Blood 1996;87(7):2891-2899
  7. Arsham, MS., Barch, MJ. and Lawce HJ. (eds.) (2017) The AGT Cytogenetics Laboratory Manual. New Jersey: John Wiley & Sons Inc.
  8. Mascarello JT, Hirsch B, Kearney HM, et al. Section E9 of the American College of Medical Genetics technical standards and guidelines: fluorescence in situ hybridization. Genet Med. 2011;13(7):667-675.
  9. Wiktor AE, Dyke DLV, Stupca PJ, Ketterling RP, Thorland EC, Shearer BM, Fink SR, Stockero KJ, Majorowicz JR, Dewald GW. Preclinical validation of fluorescence in situ hybridization assays for clinical practice. Genetics in Medicine. 2006;8(1):16–23.

Microscope Images

TEL AML1 (ETV6 RUNX1) Translocation Dual Fusion magnified
Area of Interest*
ALL

Disclaimer

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.