Preferred Label : KMT2A/EPS15 Fusion Gene;
NCIt synonyms : KMT2A-EPS15 Fusion Gene; MLL-AF1p Fusion Gene; MLL/AF1p Fusion Gene; MLL/EPS15 Fusion Gene; KMT2A::EPS15 Fusion Gene; MLL-EPS15 Fusion Gene;
NCIt 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).;
NCIt note : The KMT2A/EPS15 fusion gene can also result from two complex (three way) translocations,
t(1;11;4)(p32;q23q13;p16) and t(1;11;10)(p32;q23;q24) and can be associated with complex
karyotypes, including trisomy 8, trisomy 21, monosomy 7, del(5q) or del(7q).;
Origin ID : C212134;
concept_is_in_subset
- gene_encodes_gene_product
- related_to_genetic_biomarker
