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Confirmed germline pathogenic / likely-pathogenic variant in FLCN (folliculin) — Birt-Hog...

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

IDRF-BHD-FLCN-CONFIRMED-CARRIER
TipoSeñal de alerta
Situaciónreviewed 2026-05-20 | pending_clinical_signoff
EnfermedadesDIS-RCC
FuentesSRC-NCCN-GENETIC-FAMILIAL-BREAST-OVARIAN-2025

Origen de la bandera roja

DefiniciónConfirmed germline pathogenic / likely-pathogenic variant in FLCN (folliculin) — Birt-Hogg-Dubé syndrome (BHD). Autosomal-dominant. Classic clinical triad: fibrofolliculomas (skin papules of face/neck/ upper trunk, often dermatologic presenting feature), pulmonary cysts + spontaneous pneumothorax (cumulative lifetime pneumothorax ~30-40%; imaging shows multiple basal/subpleural cysts), and renal cell carcinoma (~16-32% lifetime risk; characteristic chromophobe + hybrid oncocytic + clear-cell histologies; bilateral + multifocal common; often presents younger — 40s-50s — than sporadic RCC). FLCN encodes folliculin, an mTOR pathway regulator; loss-of-function variants cause BHD. Patient has confirmed positive germline test; no current personal cancer diagnosis in the carrier being assessed. Prevention-persona RedFlag (§20, v0.3 rare-hereditary expansion Wave P2).
Dirección clínicainvestigación
Categoríaotros

Lógica de activación

{
  "any_of": [
    {
      "finding": "germline_flcn_pathogenic_variant_confirmed",
      "value": true
    },
    {
      "finding": "birt_hogg_dube_clinical_criteria_met",
      "value": true
    },
    {
      "finding": "bhd_fibrofolliculoma_phenotype_documented",
      "value": true
    }
  ],
  "type": "lab_value"
}

Notas

Prevention-persona RedFlag for BHD/FLCN confirmed carriers. Multi- organ surveillance: abdominal MRI q2-3y from age 20 for RCC (avoid radiation; many BHD lesions are hybrid oncocytic + slow-growing); chest HRCT baseline + symptom-driven (spontaneous pneumothorax triggers high-resolution imaging); dermatology q1y for skin surveillance. Nephron-sparing surgery (partial nephrectomy) preferred for ≤3cm renal lesions given multifocal/bilateral disease pattern. STUB pending two-Co-Lead signoff per CHARTER §6.1 dev-mode.

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