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Génigree familiale suggestive du syndrome de Peutz-Jeghers (PJS): l'un des (a) membres de la famille...

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IDRF-PEUTZ-JEGHERS-FAMILY-HISTORY-SUSPICION
TypeSignal d’alerte
Étatreviewed 2026-05-18 | pending_clinical_signoff
MaladiesDIS-BREAST DIS-CERVICAL DIS-CRC DIS-GASTRIC DIS-OVARIAN DIS-PDAC
SourcesSRC-NCCN-COLON-2025 SRC-NCCN-GENETIC-FAMILIAL-CRC-2025

Origine du drapeau rouge

DéfinitionFamily pedigree suggestive of Peutz-Jeghers syndrome (PJS): any of (a) a family member with a known pathogenic STK11 / LKB1 variant; (b) classic Peutz-Jeghers clinical phenotype in proband or relative — characteristic mucocutaneous melanin pigmentation (peri-oral, buccal mucosa, perianal, digital tips) together with at least one characteristic Peutz-Jeghers GI hamartomatous polyp (small bowel, colon, or stomach); (c) a first-degree relative with a clinical PJS diagnosis and a personal or family history of small-bowel intussusception requiring intervention (the classic PJS childhood presentation, often the index acute event leading to diagnosis). No current personal cancer diagnosis in the individual at risk. Prevention-persona RedFlag (§20 ratification 2026-05-18, v0.2-B hereditary pilot — additional).
Direction cliniqueenquêter
Catégorieautres

Logique de déclenchement

{
  "any_of": [
    {
      "finding": "family_stk11_known_pathogenic_variant",
      "value": true
    },
    {
      "finding": "family_classic_peutz_jeghers_phenotype",
      "value": true
    },
    {
      "finding": "family_first_degree_peutz_jeghers_with_intussusception_history",
      "value": true
    }
  ],
  "type": "lab_value"
}

Notes

v0.2-B hereditary pilot — Peutz-Jeghers syndrome. Fires on pedigree- based suspicion of PJS in an asymptomatic individual (no current cancer diagnosis). Engine routes to PreventionPlan recommending: (a) genetic counseling + germline STK11 panel testing via IND-PEUTZ-JEGHERS-SUSPICION-PREVENTION-GENETIC-COUNSELING (standard) (b) empirical multi-organ Peutz-Jeghers surveillance for patients declining testing via IND-PEUTZ-JEGHERS-SUSPICION-PREVENTION- ENHANCED-SURVEILLANCE (alternative). Triggers correspond to established PJS clinical and pedigree criteria. WHO / NCCN diagnostic criteria for PJS: (i) ≥2 PJS-type hamartomatous polyps confirmed histologically; (ii) any number of PJS polyps + family history of PJS; (iii) characteristic mucocutaneous pigmentation + family history of PJS; (iv) characteristic mucocutaneous pigmentation + any PJS polyp. The pedigree-suspicion triggers in this RF map to those criteria from the "asymptomatic relative" perspective. STUB pending two-Clinical-Co-Lead signoff per CHARTER §6.1 dev-mode exemption. Source-set TODO: dedicated PJS surveillance source — ACG Clinical Guideline on Genetic Testing and Management of Hereditary Gastrointestinal Cancer Synd...

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Indication

Signal d’alerte