Confirmado germinal patogênica / provável patogénica variante na NF1 OU cumprimento de NIH/Be...

Visão determinística da entidade fonte YAML. A autoridade clínica permanece com os IDs de fonte citados e estado de assinatura do revisor.

ID	`RF-NF1-CONFIRMED-CARRIER`
Tipo	Sinal de alerta
Estado	reviewed 2026-05-19 \| pending_clinical_signoff
Doenças	`DIS-BREAST` `DIS-GLIOMA-LOW-GRADE` `DIS-SOFT-TISSUE-SARCOMA`
Fontes	`SRC-NCCN-BREAST-2025` `SRC-NCCN-GENETIC-FAMILIAL-BREAST-OVARIAN-2025`

Origem da bandeira vermelha

Definição	Confirmed germline pathogenic / likely-pathogenic variant in NF1 OR fulfillment of NIH/Bethesda clinical diagnostic criteria for neurofibromatosis type 1 (≥2 of: ≥6 café-au-lait macules >5 mm pre-pubertal or >15 mm post-pubertal, ≥2 neurofibromas or 1 plexiform neurofibroma, axillary/inguinal freckling, optic pathway glioma, ≥2 Lisch nodules, distinctive osseous lesion, FDR with NF1). NF1 is an autosomal-dominant tumor-predisposition syndrome with ~1 in 3000 prevalence — most common single-gene cancer predisposition syndrome. Cancer spectrum: optic pathway glioma (children, ~15-20%), other CNS gliomas (low- and high-grade across the lifespan, ~5-15% adult prevalence), malignant peripheral nerve sheath tumor (MPNST, ~10-15% lifetime, malignant transformation of plexiform neurofibroma — major life-limiting complication), breast cancer in women (lifetime ~18% by age 50, ~50% by age 70 — co...
Direcção clínica	investigar
Categoria	Outros

Lógica de Desencadeamento

{
  "any_of": [
    {
      "finding": "germline_nf1_pathogenic_variant_confirmed",
      "value": true
    },
    {
      "finding": "nih_nf1_clinical_diagnostic_criteria_met",
      "value": true
    },
    {
      "finding": "germline_nf1_likely_pathogenic_variant",
      "value": true
    }
  ],
  "type": "lab_value"
}

Notas

Prevention-persona RedFlag for NF1 confirmed-carrier / clinical- diagnostic-criteria-met cohort. Multi-organ surveillance: pediatric ophthalmology q6-12mo to age 8 (optic glioma); whole-body MRI for MPNST surveillance + symptom-driven biopsy of growing/painful/ neurologically-symptomatic plexiform neurofibromas; women: annual mammography from age 30, MRI from age 30-50. STUB pending two-Co- Lead signoff per CHARTER §6.1 dev-mode.

Usado por

Indicação

IND-NF1-CARRIER-PREVENTION-OBSERVATION - IND-NF1-CARRIER-PREVENTION-OBSERVATION
IND-NF1-CARRIER-PREVENTION-SURVEILLANCE - IND-NF1-CARRIER-PREVENTION-SURVEILLANCE
IND-NF1-SUSPICION-PREVENTION-TESTING - IND-NF1-SUSPICION-PREVENTION-TESTING

Sinal de alerta

RF-NF1-FAMILY-HISTORY-SUSPICION - Patrão pedigree familiar sugestivo do estado portador da linhagem NF1 em um ind...