KMT2A Partial Tandem Duplication

**Semantic type:** Cell or Molecular Dysfunction

**Definition:** A chromosomal rearrangement where exons 5 through 11 or 5 through 12 of the MLL gene are duplicated and inserted upstream of exon 4 of the gene. This duplication results in transcripts and proteins that have the N-terminal region, which contains the AT hook DNA-binding motifs, and the transcriptional repression domain duplicated. This mutation is associated with myelodysplastic syndrome (MDS) and susceptibility of MDS progression to acute myeloid leukemia.

**Synonyms:** - KMT2A PTD - KMT2A Partial-Tandem Duplication - KMT2A-PTD - MLL PTD - MLL Partial Tandem Duplication - MLL-PTD - Partial Tandem Duplication of MLL