Table 1 The most common KMT2A fusion partners in AML patients
Official Symbol | Known As | Chromosome | Exons Count | Function | Frequency in KMT2A-r AML Cases |
|---|---|---|---|---|---|
MLLT3 | AF9, YEATS3 | 9p21.3 | 12 | Functions as a signaling hub that regulates transcription through dynamic recruitment of cofactors in normal hematopoiesis and in acute leukemia. | 30% |
MLLT10 | AF10 | 10p12.31 | 30 | A transcription factor that interacts directly with DNA, the histone complex, and other transcription factors through its domains | 19% |
ELL | MEN; ELL1; PPP1R68; C19orf17 | 19p13.11 | 15 | Stimulating the rate of RNA polymerase II transcription by suppressing transient pausing of the polymerase at multiple sites along the DNA, essentially allowing for smoother and faster elongation during the transcription process | 10% |
AFDN | AF6; MLLT4; MLL-AF6; l-afadin | 6q27 | 35 | A complex modulator of cellular processes implicated in cancer progression, including signal transduction, migration, invasion, and apoptosis. | 8% |
MLLT1 | ENL; LTG19; YEATS1 | 19p13.3 | 15 | A critical component of the super-elongation complex (SEC) that regulates mRNA elongation by RNA polymerase II (RNAPII) during transcription, and hence regulates RNA expression | 4% |
MLLT11 | AF1Q | 1q21.3 | 2 | Transcriptional regulation and chromatin remodeling. | 2% |