" /> KMT2A Partial Tandem Duplication - CISMeF





Preferred Label : KMT2A Partial Tandem Duplication;

NCIt synonyms : Partial Tandem Duplication of MLL; MLL-PTD; KMT2A-PTD;

NCIt related terms : MLL Partial Tandem Duplication;

NCIt 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.;

PubMed : 15774615; 8275471;

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04/05/2025


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