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AML1 (RUNX1) Breakapart

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

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.

References

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*
ALL, 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.