KMT2A/EPS15 Fusion Gene

**Semantic type:** Gene or Genome

**Definition:** A fusion gene that results from a chromosomal translocation t(1;11)(p32;q23) that fuses the KMT2A gene with variable breakpoints across exons 6-10, upstream of exon 2, or rarely exons 1 or 12 of the EPS15 gene. This chromosomal rearrangement is associated with acute lymphoblastic leukemia (ALL), biphenotypic acute leukemia (BAL), acute myeloid leukemia (AML) and myelodysplastic syndrome (MDS).

**Synonyms:** - KMT2A-EPS15 Fusion Gene - KMT2A::EPS15 Fusion Gene - MLL-AF1p Fusion Gene - MLL-EPS15 Fusion Gene - MLL/AF1p Fusion Gene - MLL/EPS15 Fusion Gene