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AML1 (RUNX1) Breakapart

Catalogue Numbers
LPH 027-S (5 tests)
LPH 027 (10 tests)

Probe Specification

  • AML1, 21q22.12, Red
  • AML1, 21q22.12, Green

The AML1 probe mix consists of a 156kb probe, labelled in red, centromeric to the AML1 (RUNX1) gene that spans the CLIC6 gene and a 169kb probe, labelled in green, covering part of the AML1 (RUNX1) gene, including markers SHGC-87606 and D21S1921.

Probe Information

The RUNX1 (RUNX family transcription factor 1) gene at 21q22.12 is one of the most frequent targets of chromosomal rearrangements observed in human acute leukaemia.

The most common rearrangements are the ETV6-RUNX1 and RUNX1-RUNX1T1 fusions. The ETV6-RUNX1 fusion is brought about by the t(12;21)(p13;q22) translocation, observed in around 21% of childhood B-cell acute lymphoblastic leukaemia (ALL) cases1, whilst the RUNX1- RUNX1T1 fusion is the result of the t(8;21)(q22;q22) translocation observed in 10-22% of patients with acute myeloid leukaemia (AML) FAB (French-American-British classification) type M2 and 5-10% of AML cases overall2,3. Both these rearrangements are considered good prognostic indicators in these diseases4,5.

The RUNX1 gene is also rearranged in many other rarer translocations, with partners including chromosomes 1, 2, 3, 4, 5, 6, 7, 9, 10, 14, 15, 16, 17, 18, 19, 20 and X6. This breakapart probe has been designed to allow the detection of rearrangements regardless of the partner gene.

Rearrangements of RUNX1 are not restricted to translocations. Using FISH, amplifications of chromosome 21 (iAMP21), including the RUNX1 gene, have also been found in childhood ALL7,8. These amplifications have been associated with poorer outcome9.

The quality of the products we have received from Cytocell have been excellent. The FISH probes they provide to us give intense, strong signals and are a pleasure to count. What has really stood out however has been the level of support and assistance provided by Cytocell’s application specialists. The team worked very closely alongside our own during the adoption of this product and spent many hours with us perfecting the technique, going above and beyond what I would expect during the transition period. Source BioScience absolutely demand high quality products and service to be able to deliver our results with confidence, and that is what we have received from Cytocell. Neil Ryan, Laboratory Operations Manager at Source BioScience


  1. Jamil A et al., Cancer Genet Cytogenet 2000;122(2):73-8
  2. Swerdlow et al., (eds,) WHO Classification of Tumours of Haematopoietic and Lymphoid Tissue, Lyon, France, 4th edition, IARC,2017
  3. Reikvam H, et al., J Biomed Biotechnol. 2011; 2011:104631.
  4. Shurtleff et al., Leukemia. 1995 Dec;9(12):1985-9
  5. Cho et al., Korean J Intern Med. 2003 Mar;18(1):13-20
  6. De Braekeleer et al., Anticancer Research 2009;29(4):1031-1038
  7. Niini T, Haematologica 2000;85(4):362-6
  8. Harewood et al., Leukemia. 2003 Mar;17(3):547-53
  9. Robinson HM et al., Leukemia 2003;17(11):2249-50
  10. Arsham, MS., Barch, MJ. and Lawce HJ. (eds.) (2017) The AGT Cytogenetics Laboratory Manual. New Jersey: John Wiley & Sons Inc.
  11. 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.
  12. 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

AML (RUNX1) Breakapart magnified
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.