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Confirmado la variante patógena de la gérmena / patogénica probable en el proto-oncogene MET...

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IDRF-HPRC-CONFIRMED-CARRIER
TipoSeñal de alerta
Situaciónreviewed 2026-05-18 | pending_clinical_signoff
EnfermedadesDIS-RCC
FuentesSRC-NCCN-BCELL-2025

Origen de la bandera roja

DefiniciónConfirmed germline pathogenic / likely-pathogenic variant in the MET proto-oncogene — Hereditary Papillary Renal Cancer (HPRC), autosomal dominant type-1-papillary RCC predisposition. Patient has had germline MET testing returned positive; the pedigree-suspicion question is settled. No current personal cancer diagnosis in the carrier being assessed. Mandates structured renal surveillance with annual abdominal MRI from age 30 (or 10 years before youngest family RCC). HPRC tumors are typically bilateral, multifocal, indolent type-1 papillary — less aggressive than HLRCC (FH-driven type-2 papillary) — enabling active surveillance for sub-3-cm lesions and nephron-sparing surgery as the dominant interventional strategy. Prevention-persona RedFlag (§20, v0.2-B confirmed-carrier surveillance pathway — distinct from RF-HPRC-FAMILY-HISTORY-SUSPICION which fires before testing).
Dirección clínicainvestigación
Categoríaotros

Lógica de activación

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

Notas

v0.2-B confirmed-carrier surveillance pathway — HPRC / MET. Fires on documented germline MET pathogenic variant positivity. Engine routes to PreventionPlan recommending: (a) IND-HPRC-CARRIER-SURVEILLANCE (standard) — annual abdominal MRI from age 30 (or 10 years before youngest family RCC); nephron-sparing surgery threshold ≥3 cm; active surveillance permissible for smaller lesions (HPRC-RCC less aggressive than HLRCC type-2-papillary). (b) IND-HPRC-CARRIER-INTENSIFIED (aggressive) — earlier surveillance initiation + lower surgical threshold for atypical / rapidly growing lesions. STUB pending two-Clinical-Co-Lead signoff per CHARTER §6.1 dev-mode exemption. Source-set TODO: dedicated HPRC surveillance source — Schmidt et al. JNCI; Linehan / Marston Linehan group recommendations — v0.2-B authoring backlog new SRC entities. Clinical features of confirmed MET carriers (Schmidt et al. 1997; NCI Urologic Oncology Branch experience): - Bilateral, multifocal type-1 papillary RCC; lifetime risk approaches 100% with extended follow-up - Indolent biology — many tumors enlarge slowly; metastatic potential lower than HLRCC type-2-papillary - Surveillance modality preference: MRI (radiation-s...

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