The t(4;11) KMT2A / AFF1 is the most frequently (approximately 66% according to Meyer et al.) observed translocation involving the KMT2A gene resulting in ALL. The KMT2A / AFF1 translocation results in the generation of fusion proteins KMT2A / AFF1 and AFF1 / KMT2A; both seem to have leukemogenic properties. Furthermore, MECOM (3q26) is one of the targets of the KMT2A oncoproteins, which increased expression correlates with unfavorable prognosis in Acute Myeloid Leukemia. The KMT2A / AFF1 t(4;11) Fusion FISH probe is optimized to detect translocations involving the KMT2A (previously known as MLL) and AFF1 gene regions at 4q21-22 and 11q23 in a dual-color, fusion assay on metaphase/interphase spreads, blood smears and bone marrow cells.
Harrison CJ et al, 2010, Br J Haem, 151; 132-142.Arai S et al, 2011, Blood, 117; 6304-6314 Meyer C et al, 2009, Leukemia, 23; 1490-1499.