One of the relatively frequently observed translocations in AML involves the genes KMT2A and MLLT4 (previously known as AF6) at 11q23 and 6q27. The KMT2A / MLLT4 translocation results in the generation of fusion protein that retains the KMT2A N-terminus, including both an A-T hook domain and a region similar to mammalian DNA methyltransferase. The breakpoint region of the MLLT4 gene is located within intron 1 and downstream of the initiation codon. The KMT2A / MLLT4 t(6;11) Fusion FISH probe is optimized to detect translocations involving the KMT2A (previously known as MLL) and MLLT4 gene regions at 11q23 and 6q27 in a dual-color, fusion assay on metaphase/interphase spreads, blood smears and bone marrow cells.
Mitterbauer-Hohdanner G et al, 2004, Eur J Clin Invest, 34; 12-24.
Meyer C et al, 2009, Leukemia, 23; 1490-1499.