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Variante patogénica/ probable patogénica confirmada de la línea germinal en RUNX1 (Plaqueta familiar...

Vista determinista de la entidad fuente YAML. La autoridad clínica sigue con los ID de fuente citados y estado de firma del revisor.

IDRF-RUNX1-CONFIRMED-CARRIER
TipoSeñal de alerta
Situaciónreviewed 2026-05-20 | pending_clinical_signoff
EnfermedadesDIS-AML DIS-MDS-HR DIS-T-ALL
FuentesSRC-ELN-AML-2022 SRC-ESMO-MDS-2021 SRC-NCCN-AML-2025

Origen de la bandera roja

DefiniciónConfirmed germline pathogenic / likely-pathogenic variant in RUNX1 (Familial Platelet Disorder with predisposition to AML / MDS — FPD/AML, OMIM 601399). Patient has had germline panel testing returned positive, often confirmed on buccal / fibroblast tissue to avoid somatic-clone contamination of blood. The carrier presents at baseline with mild-to- moderate thrombocytopenia (platelet count 80-130 x10⁹/L typically, occasionally normal) and a functional platelet aggregation defect (deficient dense-granule release; aspirin-like in vitro phenotype) — the bleeding burden ranges from asymptomatic to clinically significant in surgical / obstetric contexts. Lifetime risk of myeloid malignancy (MDS or AML) is ~35-45% in classic FPD/AML pedigrees and somatic RUNX1 second hits, ASXL1 + monosomy-7 + del(5q) clonal events typically precede frank AML. T-cell lymphoid leukemia risk (~5% lifetime) and...
Dirección clínicainvestigación
Categoríaotros

Lógica de activación

{
  "any_of": [
    {
      "finding": "germline_runx1_pathogenic_variant_confirmed",
      "value": true
    },
    {
      "finding": "familial_platelet_disorder_runx1_clinical_criteria_met",
      "value": true
    }
  ],
  "type": "lab_value"
}

Notas

Wave P confirmed-carrier surveillance pathway — germline RUNX1 (FPD/AML). Fires on documented germline RUNX1 pathogenic variant positivity OR documented FPD/AML clinical criteria (inherited thrombocytopenia + dense-granule release defect + family history of AML / MDS / T-ALL). Engine routes to PreventionPlan recommending: (a) IND-RUNX1-CARRIER-SURVEILLANCE (standard) — CBC + smear q3-6 months lifelong from carrier confirmation; baseline + post-clinical-change BMA with myeloid NGS panel + cytogenetics; molecular monitoring (ASXL1, BCOR, monosomy-7 emergence) annually; cascade testing to first-degree relatives with documented buccal / fibroblast germline confirmation. (b) IND-RUNX1-CARRIER-INTENSIFIED (aggressive) — standard protocol PLUS HLA typing on cohort + sibling early; q3-month CBC + smear (instead of q6); BMA every 1-2 years even without provoked indication; preemptive transplant-team consultation; explicit donor-screening protocol (sibling donor must be RUNX1-tested first, NOT used if a carrier — donor-derived leukemia documented in FPD/AML). STUB pending two-Clinical-Co-Lead signoff per CHARTER §6.1 dev-mode exemption. Penetrance reference: Owen et al. Blood 2008; Schmit e...

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