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Family pedigree suggestive of Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC) syn...

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

IDRF-HLRCC-FAMILY-HISTORY-SUSPICION
TipoSeñal de alerta
Situaciónreviewed 2026-05-18 | pending_clinical_signoff
EnfermedadesDIS-RCC
FuentesSRC-ESMO-RCC-2024 SRC-NCCN-KIDNEY-2025

Origen de la bandera roja

DefiniciónFamily pedigree suggestive of Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC) syndrome, caused by germline pathogenic variants in fumarate hydratase (FH): any of (a) a family member with a known pathogenic FH gene variant; (b) family history of cutaneous leiomyomas (pathognomonic for HLRCC) and/or multiple uterine leiomyomas with early onset (under 30) in female relatives; (c) family history of papillary type-2 / FH-deficient renal cell carcinoma — aggressive HLRCC-associated histology characterised by prominent eosinophilic nucleoli and perinucleolar halos (so-called "viral inclusion-like" nucleoli). No current personal cancer diagnosis in the individual at risk. Prevention-persona RedFlag (§20 ratification 2026-05-18, v0.2-B hereditary pilot starter).
Dirección clínicainvestigación
Categoríaotros

Lógica de activación

{
  "any_of": [
    {
      "finding": "family_fh_known_pathogenic_variant",
      "value": true
    },
    {
      "finding": "family_cutaneous_leiomyomas_or_uterine_leiomyomas_early_onset",
      "value": true
    },
    {
      "finding": "family_papillary_type_2_rcc",
      "value": true
    }
  ],
  "type": "lab_value"
}

Notas

v0.2-B hereditary pilot — HLRCC. Fires on pedigree-based suspicion of HLRCC syndrome in an asymptomatic individual (no current cancer diagnosis). Engine routes to PreventionPlan recommending: (a) genetic counseling + germline FH gene panel testing (modern renal-cancer hereditary panels include FH, VHL, FLCN, MET, BAP1, SDHB/C/D for differential) via IND-HLRCC-SUSPICION-PREVENTION-GENETIC-COUNSELING (standard) (b) empirical annual abdominal MRI surveillance for patients declining testing via IND-HLRCC-SUSPICION-PREVENTION-ENHANCED- SURVEILLANCE (alternative). Triggers correspond to established HLRCC-suspicion criteria. Cutaneous leiomyomas are pathognomonic (firm, painful, often multiple, characteristic histology — well-circumscribed intradermal fascicles of smooth-muscle cells). Multiple early-onset uterine leiomyomas plus family history of cutaneous leiomyomas or papillary type-2 RCC strongly suggest HLRCC. Papillary type-2 RCC in HLRCC is notably more aggressive than sporadic papillary type-2 — can metastasize from very small primary tumors, justifying the aggressive low-threshold surveillance protocol below. STUB pending two-Clinical-Co-Lead signoff per CHARTER §6.1 dev-mode ex...

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