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El paciente tiene una variante patógena de la línea germinal confirmada en SMARCB1 (cromosoma 22q11.2) o SM...

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

IDRF-RHABDOID-PREDISPOSITION-CONFIRMED-CARRIER
TipoSeñal de alerta
Situaciónreviewed 2026-05-19 | pending_clinical_signoff
EnfermedadesDIS-GLIOMA-LOW-GRADE
FuentesSRC-FOULKES-RHABDOID-2017 SRC-NCCN-CNS-2025 SRC-NCCN-GENETIC-FAMILIAL-BREAST-OVARIAN-2025

Origen de la bandera roja

DefiniciónPatient has a confirmed germline pathogenic variant in SMARCB1 (chromosome 22q11.2) or SMARCA4 (chromosome 19p13.2), defining rhabdoid tumor predisposition syndrome type 1 (RTPS1) or type 2 (RTPS2) respectively. Autosomal-dominant inheritance with near-100% penetrance for early-childhood disease in classic SMARCB1 cases. Cancer spectrum: atypical teratoid/rhabdoid tumor (ATRT) of the CNS with infancy peak, extracranial malignant rhabdoid tumor (MRT) of kidney / liver / soft tissue, small cell carcinoma of the ovary hypercalcemic type (SCCOHT — SMARCA4 specifically), and schwannomatosis in adolescent / adult survivors. The risk window is extremely narrow (peak ATRT incidence in the first 2 years of life) so high-cadence early surveillance is non-negotiable. Prevention-persona confirmed-carrier RedFlag (§20).
Dirección clínicainvestigación
Categoríaotros

Lógica de activación

{
  "any_of": [
    {
      "finding": "germline_smarcb1_pathogenic_confirmed",
      "value": true
    },
    {
      "finding": "germline_smarca4_pathogenic_confirmed",
      "value": true
    }
  ],
  "type": "lab_value"
}

Notas

Prevention-persona Rhabdoid Tumor Predisposition Syndrome confirmed-carrier RedFlag (pediatric cancer predisposition Wave M). Engine routes to PreventionPlan for ATRT / MRT / (SMARCA4: SCCOHT) surveillance: brain MRI q3mo from infancy through age 4 then q6mo through age 5, whole-body MRI q3-6mo through age 5. SMARCA4 carriers additionally surveilled for SCCOHT (transvaginal US + pelvic exam starting menarche). Disease anchor DIS-GLIOMA-LOW-GRADE used as closest CNS anchor available in KB — ATRT is a distinct embryonal CNS entity, noted in rationale of paired Indications. STUB pending two-Clinical-Co-Lead signoff per CHARTER §6.1 dev-mode.

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