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AML1/ETO (RUNX1/RUNX1T1) Translocation, Dual Fusion

Applications
haematology
Catalogue Numbers
LPH 026-S (5 tests)
LPH 026 (10 tests)

Probe Specification

  • AML1, 21q22.12, Red
  • ETO, 8q21.3, Green

The AML1 component consists of a 156kb probe, labelled in red, located centromeric to the AML1 (RUNX1) gene that spans the CLIC6 gene and a 169kb probe covering part of the AML1 (RUNX1) gene, including markers SHGC-87606 and D21S1921. The ETO (RUNX1T1) component, labelled in green, consists of a 151kb probe covering the centromeric part of the gene and the flanking region and a 194kb probe covering the telomeric part of the gene and the flanking region.

Probe Information

The RUNX1 (RUNX family transcription factor 1) gene at 21q22.12 is fused with the RUNX1T1 (RUNX1 partner transcriptional co-repressor 1) gene at Ensembl location 8q21.3, in the t(8;21)(q22;q22) translocation, found most commonly in patients with acute myeloid leukaemia (AML) FAB (French-American-British classification) type M2.

AML with a RUNX1-RUNX1T1 fusion resulting from a t(8;21)(q22;q22) translocation is a recognised disease entity according to the World Health Organization (WHO) classification of myeloid neoplasms and acute leukemia1. The translocation is observed in 10%-22% of patients with AML FAB type M2 and 5%-10% of AML cases overall, most commonly in children and young adults2 and is a good prognostic indicator3,4,5. The t(8;21) breakpoint mainly occurs in the intron between exons 5 and 6 just before the transactivation domain and fusion protein created contains the DNA-binding domain of RUNX1 fused to the transcription factor RUNX1T12.

In addition to the reciprocal t(8;21) translocation creating the RUNX1- RUNX1T1 fusion, variant translocations have also been reported. These variant rearrangements may be cryptic and easily overlooked by G-banding; however, FISH can indicate the presence of such rearrangements2.

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.

References

  1. Swerdlow et al., (eds,) WHO Classification of Tumours of Haematopoietic and Lymphoid Tissue, Lyon, France, 4th edition, IARC,2017
  2. Reikvam H, et al., J Biomed Biotechnol. 2011; 2011:104631
  3. Grimwade et al., Blood 2001;98(5):1312-1320
  4. Harrison et al., Journal of Clinical Oncology 2010;28(16):2674-2681
  5. Grimwade et al., Blood 2010;116(3):354-365
  6. Arsham, MS., Barch, MJ. and Lawce HJ. (eds.) (2017) The AGT Cytogenetics Laboratory Manual. New Jersey: John Wiley & Sons Inc.
  7. 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.
  8. 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

AML1 ETO Translocation Dual Fusion magnified
Area of Interest*
AML

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.