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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 product consists of a 156kb probe, labelled in red, located centromeric to the AML1 (RUNX1) gene, including the CLIC6 gene and a green probe, covering a 169kb region including the telomeric end of the AML1 (RUNX1) gene and extending beyond the D21S1921 marker.

Probe Information

The AML1 (RUNX1) gene is the most frequent target of chromosomal rearrangements observed in human acute leukaemia.

The most common rearrangements are the TEL/AML1 and AML1/ETO fusions. The TEL(ETV6)/AML1 fusion is brought about by the t(12;21)(p13;q22) translocation, observed in around 21% of childhood B-ALL cases1, whilst the AML1/ETO(RUNX1T1) fusion is the result of the t(8;21)(q21;q22) translocation observed in ~40% of AML M2 cases and 5-12% of AML cases overall2. Both of these rearrangements provide for a favourable outcome3,4.

The AML1 gene is also rearranged in many other rare translocations, with partners including chromosomes 1, 2, 3, 4, 6, 9, 16, 20 and X. The Cytocell AML1 breakapart product has been designed to allow the detection of rearrangements regardless of the partner gene.

Rearrangements of AML1 are not restricted to translocations. Using FISH, amplifications of chromosome 21 (iAMP21), including the AML1 gene, have also been found in childhood ALL5,6. These amplifications have been associated with poor outcome7.

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. Huret JL. t(8;21)(q22;q22). Atlas Genet Cytogenet Oncol Haematol. September 1997

3. Shurtleff et al., Leukemia. 1995 Dec;9(12):1985-9

4. Cho et al., Korean J Intern Med. 2003 Mar;18(1):13-20

5. Niini T, Haematologica 2000;85(4):362-6

6. Harewood et al., Leukemia. 2003 Mar;17(3):547-53

7. Robinson HM et al., Leukemia 2003;17(11):2249-50

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.