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Confirmed germline pathogenic / likely-pathogenic variant in the STK11 (LKB1) gene — Peut...

Детермінований перегляд YAML-сутності з джерельної бази. Клінічний авторитет лишається за вказаними source ID та статусом клінічного sign-off.

IDRF-PEUTZ-JEGHERS-CONFIRMED-CARRIER
ТипТривожна ознака
Статуспереглянуто 2026-05-18 | очікує клінічного підпису
ХворобиDIS-BREAST DIS-CERVICAL DIS-CRC DIS-GASTRIC DIS-OVARIAN DIS-PDAC
ДжерелаSRC-ESMO-CRC-2024 SRC-NCCN-COLON-2025 SRC-NCCN-GENETIC-FAMILIAL-CRC-2025

Походження тривожної ознаки

ВизначенняConfirmed germline pathogenic / likely-pathogenic variant in the STK11 (LKB1) gene — Peutz-Jeghers syndrome (PJS). Patient has had germline STK11 testing returned positive; the pedigree-suspicion question is settled. No current personal cancer diagnosis in the carrier being assessed (current cancer routes to treatment-track plan with PJS status recorded). Mandates structured multi-organ surveillance from childhood given small-bowel intussusception risk (~50% by age 20 in untreated PJS) and the highest hereditary small-bowel-cancer and pancreatic-cancer risks of any syndrome. Prevention-persona RedFlag (§20, v0.2-B confirmed-carrier surveillance pathway — distinct from RF-PEUTZ-JEGHERS-FAMILY-HISTORY-SUSPICION which fires before testing).
Клінічний напрямinvestigate
Категоріяother

Логіка спрацьовування

{
  "any_of": [
    {
      "finding": "germline_stk11_pathogenic_variant_confirmed",
      "value": true
    }
  ],
  "type": "lab_value"
}

Нотатки

v0.2-B confirmed-carrier surveillance pathway — Peutz-Jeghers / STK11. Fires on documented germline STK11 pathogenic variant positivity. Engine routes to PreventionPlan recommending: (a) IND-PEUTZ-JEGHERS-CARRIER-SURVEILLANCE (standard) — small-bowel VCE / MR enterography q2-3y from age 8-10; colonoscopy q2-3y from age 18; EGD q2-3y from age 8-10; breast MRI from age 30 (women); pancreatic EUS / MRI q1-2y from age 30-35; cervical Pap with adenoma-malignum awareness; testicular exam (men). (b) IND-PEUTZ-JEGHERS-CARRIER-INTENSIFIED (aggressive) — standard PLUS earlier pancreatic surveillance initiation + breast risk- reducing options discussion. STUB pending two-Clinical-Co-Lead signoff per CHARTER §6.1 dev-mode exemption. Lifetime cancer risk in confirmed STK11 carriers (Hearle et al. Clin Cancer Res 2006; ACG 2015): - Colorectal: ~39% lifetime - Pancreatic adenocarcinoma: ~11-36% lifetime (highest hereditary pancreatic-cancer risk of any syndrome) - Breast (women): ~32-54% lifetime (comparable to BRCA1/2) - Gastric: ~29% lifetime - Small-bowel adenocarcinoma: ~13% lifetime (highest hereditary) - Ovarian SCTAT (women): ~8-21% - Cervical adenoma malignum (minimal-deviation adenocarc...

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Indications

Тривожна ознака