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AML with core-binding-factor (CBF) cytogenetics: t(8;21)(q22;q22.1) with RUNX1::RUNX1T1 f...

Deterministic view of the source YAML entity. Clinical authority remains with the cited source IDs and reviewer sign-off state.

IDRF-AML-CORE-BINDING-FACTOR-FAVORABLE
TypeRed flag
Statusreviewed 2026-04-27 | pending_clinical_signoff
DiseasesDIS-AML
SourcesSRC-ELN-AML-2022 SRC-ESMO-AML-2020 SRC-NCCN-AML-2025

Red Flag Origin

DefinitionAML with core-binding-factor (CBF) cytogenetics: t(8;21)(q22;q22.1) with RUNX1::RUNX1T1 fusion OR inv(16)(p13.1q22) / t(16;16)(p13.1;q22) with CBFB::MYH11 fusion. ~10-15% of de novo adult AML, ~25% of pediatric AML. ELN 2022 favorable risk; standard 7+3 induction + 3-4 cycles HiDAC consolidation is curative-intent in CR1 (5-year OS 60-75%); upfront alloHCT is NOT recommended in CR1 default. Adding gemtuzumab ozogamicin to induction (ALFA-0701, AML-19) further improves OS specifically in CBF AML (HR 0.69). c-KIT mutations (D816, exon-8) co-occur in ~25% of CBF AML and may downgrade favorability — warrant MRD-directed approach.
Clinical directionde-escalate
Categoryhigh-risk-biology
Shifts algorithmALGO-AML-1L

Trigger Logic

{
  "any_of": [
    {
      "finding": "t_8_21",
      "value": true
    },
    {
      "finding": "inv_16",
      "value": true
    },
    {
      "finding": "t_16_16",
      "value": true
    },
    {
      "finding": "runx1_runx1t1_fusion",
      "value": "positive"
    },
    {
      "finding": "cbfb_myh11_fusion",
      "value": "positive"
    },
    {
      "finding": "core_binding_factor",
      "value": "positive"
    },
    {
      "finding": "aml_eln_risk",
      "value": "favorable"
    }
  ],
  "type": "biomarker"
}

Notes

De-escalate direction reflects "do NOT add upfront alloHCT" — CBF AML receives curative chemo (7+3 ± GO + HiDAC × 3-4) without transplant in CR1; alloHCT reserved for MRD-positive after consolidation OR relapse. KIT D816 mutation (~15-25% of CBF AML) is associated with higher relapse risk — some centers add midostaurin or dasatinib (PETHEMA-CETLAM 2018), though c-KIT-targeted therapy not yet ELN-2022 standard. MRD by RT-qPCR for the fusion transcript is sensitive (10⁻⁵) and predictive: >3-log reduction by end of consolidation = molecular CR; persistent positivity → consider alloHCT or salvage. Co-firing with RF-AML-FLT3- ACTIONABLE (rare in CBF) or RF-AML-MEASURABLE-RESIDUAL-DISEASE: latter takes priority and shifts to alloHCT routing despite CBF favorability.

Used By

Algorithms