One of the relatively frequently observed translocations (around 10 %) in AML and ALL involves the genes KMT2A (previously known as MLL) and MLLT1 (aka ENL) at 11q23 and 19p13. The KMT2A / MLLT1 translocation results in the generation of fusion protein that retains the MLL N-terminus, including both an A-T hook domain and a region similar to mammalian DNA methyltransferase. There are several breakpoints within the MLLT1 gene described, without clear differences in clinicohematologic features. The KMT2A / MLLT1 Fusion probe is optimized to detect translocations involving the KMT2A and MLLT1 gene regions at 11q23 and 19p13 in a dual-color, fusion assay on metaphase/interphase spreads, blood smears and bone marrow cells in a dual-color, fusion assay.
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