KMT2A rearrangement (MLL fusion)
Deterministic view of the source YAML entity. Clinical authority remains with the cited source IDs and reviewer sign-off state.
| ID | BIO-KMT2A-REARRANGEMENT |
|---|---|
| Type | Biomarker |
| Aliases | 11q23 rearrangementKMT2A rearrangementKMT2A-rMLL fusionMLL rearrangementПеребудова KMT2A (фузія MLL) |
| Status | reviewed 2026-04-30 | pending_clinical_signoff |
| Diseases | None declared |
| Sources | SRC-ELN-AML-2022 SRC-NCCN-AML-2025 |
Biomarker Facts
| Biomarker type | gene_fusion |
|---|---|
| Mutation details | {"functional_impact": "Aberrant transcriptional activation of HOX-A cluster (HOXA9 / MEIS1) via menin-MLL complex; leukemogenic", "gene": "KMT2A", "partners": ["MLLT3 (AF9, t(9;11))", "MLLT1 (ENL, t(11;19))", "AFDN (AF6, t(6;11))", "ELL, t(11;19)", "AFF1 (AF4, t(4;11))", "MLLT10 (AF10)"], "variant_type": "chromosomal rearrangement (typically 11q23 translocation)"} |
| Measurement | MethodKaryotype + FISH (KMT2A break-apart probe) at diagnosis; RT-PCR / RNA-NGS for fusion partner identification Unitscategorical (positive | negative); fusion partner reported when known |
| Related biomarkers | BIO-NPM1 |
Notes
KMT2A rearrangements occur in ~5-10% of adult AML and ~70% of infant ALL/AML; ELN-2022 classifies as adverse risk in AML. Mechanism: KMT2A fusion proteins recruit menin to drive HOXA / MEIS1 expression — menin-MLL interaction is the therapeutic target. Revumenib (menin inhibitor; AUGMENT-101 phase 1/2) FDA-approved Nov 2024 for relapsed/ refractory KMT2A-rearranged acute leukemia (≥1 prior line). ORR ~63% with CR/CRh ~23% in KMT2A-r AML. Differentiation syndrome (~16%) and QTc prolongation are signature AEs. Ziftomenib is alternative menin inhibitor in late-phase trials. Common partners: AF9 (t(9;11)) and AF4 (t(4;11)) — diagnostic karyotype + FISH break-apart probe is standard; fusion partner identification by RT-PCR or RNA-NGS informs prognosis (some partners higher risk than others).
Used By
Actionability
BMA-KMT2A-REARR-AML- Revumenib (SNDX-5613), an oral menin inhibitor, is FDA-approved (Nov 2024) for relapsed/r...BMA-KMT2A-REARR-B-ALL- Revumenib (menin inhibitor) FDA-approved (Nov 2024) for relapsed/refractory KMT2A-rearran...