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MLL (KMT2A) Breakapart

Catalogue Numbers
LPH 013 (10 tests)
LPH 013-S (5 tests)

Rearrangement of the MLL (KMT2A: lysine (K)-specific methyltransferase 2A) gene on chromosome 11q23.3 can be detected in the leukaemic cells of approximately 85% of infants with B-ALL1,2,3. They can also be found in 3% of de novo and 10% of therapy related AML cases4. Translocations involving the MLL gene are generally associated with increased risk of treatment failure5.

In infant ALL, the most frequent of these translocations is the t(4;11)(q21;q23.3) translocation involving MLL and the AFF1 (AF4) gene on chromosome 46,7. A poor outcome for infants with ALL is strongly associated with the presence of this rearrangement in particular6. The discovery that a single YAC spanned breakpoints in four of the more common translocations led to the naming of the candidate gene MLL (Myeloid/Lymphoid or Mixed Lineage Leukaemia). The gene has homology with a drosophila gene ('trithorax'), which is highly conserved in humans and gives rise to a protein that can be folded to give six zinc finger domains and is a developmental regulator. The zinc finger domains are translocated to the AFF1, MLLT3 and MLLT1 genes on the partner chromosomes in the aforementioned t(4;11), t(9;11)(p22;q23.3) and t(11;19)(q23.3;p13.3) translocations, respectively. Each of the genes involved in these translocations have been shown to have high sequence homology. There have been over 85 recurrent translocations involving the MLL gene reported, with 66 partner genes so far identified8.


1. Rubnitz et al., Blood 1994;84(2):570-3

2. Secker-Walker et al., Leukaemia 1998;12(5):840-4

3. Rowley, Annu Rev Genet 1998;32:495-519

4. Grossman et al., Leukemia 28 March 2013; doi10.1038/leu.2013.90

5. Pui and Evans, New Engl J Med 1998;339(9):605-15

6. Felix and Lange, Oncologist 1999;4(3):225-40

7. Heerema et al., Leukemia 1999;13(5):679-86

8. Huret JL. KMT2A (myeloid/lymphoid or mixed lineage leukemia). Atlas Genet Cytogenet Oncol Haematol. October2005

Microscope Images

MLL (KMT2A) 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.