KMT2A/CREBBP Fusion Gene

**Semantic type:** Gene or Genome

**Definition:** A fusion gene that results from a chromosomal translocation t(11;16)(q23;p13) that fuses various sites within the breakpoint cluster region (BCR) encompassing exons 8-14 of the KMT2A gene upstream of exon 4 of the CREBBP gene. This chromosomal rearrangement is associated with myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML) with MDS-related cytogenetic abnormality.

**Synonyms:** - KMT2A-CREBBP Fusion Gene - KMT2A::CREBBP Fusion Gene - MLL-CBP Fusion Gene - MLL-CREBBP Fusion Gene - MLL/CBP Fusion Gene - MLL/CREBBP Fusion Gene