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Rearranjo KMT2A (fusão MLL)

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IDBIO-KMT2A-REARRANGEMENT
TipoBiomarcador
Alegais
Rearranjo 11q23Rearranjo do KMT2AKMT2A-rFusão MLLRearranjo MLLПеребудова KMT2A (фузія MLL)
Estadoreviewed 2026-04-30 | pending_clinical_signoff
DoençasDIS-AML DIS-B-ALL
FontesSRC-ELN-AML-2022 SRC-NCCN-AML-2025

Fatos de biomarcadores

Tipo de biomarcadorgene_fusion
Detalhes da mutação{"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)"}
Medição
MétodoCariotipo + FISH (Sonda de separação KMT2A) no diagnóstico; RT-PCR / RNA-NGS para identificação de parceiros de fusão
Unidadescategorical (positive | negative); fusion partner reported when known
Biomarcadores relacionadosBIO-NPM1

Notas

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).

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