ESR1-Ligan-bindende-dominäre Mutation (D538G, Y537S/N/C, L536H, E380Q) wurde in ~30-40%...

Deterministische Ansicht der Quelle YAML Entität. Klinische Autorität bleibt mit den zitierten Quell-IDs und Rezensenten Sign-off Zustand.

ID	`RF-BREAST-ESR1-MUT-ACTIONABLE`
Art	Warnhinweis
Status	reviewed 2026-04-27 \| pending_clinical_signoff
Erkrankungen	`DIS-BREAST`
Quellen	`SRC-EMERALD-BIDARD-2022` `SRC-ESMO-BREAST-METASTATIC-2024` `SRC-NCCN-BREAST-2025`

Ursprung der Roten Flagge

Begriffsbestimmung	ESR1 ligand-binding-domain mutation (D538G, Y537S/N/C, L536H, E380Q) acquired in ~30-40% of HR+/HER2- metastatic breast cancers progressing on aromatase inhibitor. Predictive for elacestrant (oral SERD; EMERALD — mPFS 3.8 vs 1.9 mo in ESR1-mut subgroup) post-AI.
Klinische Richtung	Intensivierung
Kategorie	high-risk-biology
Schaltet Algorithmus	ALGO-BREAST-HR-POS-2L

Logik auslösen

{
  "any_of": [
    {
      "finding": "esr1_mutation",
      "value": true
    },
    {
      "finding": "esr1_status",
      "value": "mutated"
    },
    {
      "finding": "esr1_lbd",
      "value": "positive"
    }
  ],
  "type": "biomarker"
}

Anmerkungen

Test on ctDNA at progression on AI ± CDK4/6i (preferred — high concordance, polyclonal mutations common in tissue). Y537S confers more aggressive biology than D538G in some series. ESR1-WT post-AI patients did not benefit from elacestrant in EMERALD — fulvestrant + capivasertib / alpelisib alternative. Other oral SERDs (camizestrant, giredestrant, imlunestrant) and PROTACs in phase-3 development.

Verwendet von

Algorithmen

ALGO-BREAST-HR-POS-2L - ALGO-BREAST-HR-POS-2L

Kapitel des Handbuchs

HB-BREAST-HR-POS-HER2-NEG-1L - HR+/HER2- metastasierter Brustkrebs:

Warnhinweis

RF-BREAST-ESR1-Y537S-D538G-CANDIDATE - ESR1-Ligan-Bindungs-Domain-Hotspot Y537S oder D538G — die beiden dominierenden Hotspots (~70% der...