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Confirmed germline pathogenic / likely-pathogenic variant in the PTEN gene (Cowden syndro...

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

IDRF-COWDEN-CONFIRMED-CARRIER
ТипТривожна ознака
Статуспереглянуто 2026-05-18 | очікує клінічного підпису
ХворобиDIS-BREAST DIS-CRC DIS-ENDOMETRIAL DIS-RCC DIS-THYROID-PAPILLARY
ДжерелаSRC-NCCN-BCELL-2025 SRC-NCCN-BREAST-2025 SRC-NCCN-GENETIC-FAMILIAL-BREAST-OVARIAN-2025

Походження тривожної ознаки

ВизначенняConfirmed germline pathogenic / likely-pathogenic variant in the PTEN gene (Cowden syndrome / PTEN hamartoma tumor syndrome, PHTS). Patient has had germline PTEN testing returned positive; the pedigree-suspicion question is settled. No current personal cancer diagnosis in the carrier being assessed. Mandates multi-organ surveillance for the Cowden-spectrum cancers (breast — ~85% lifetime; endometrial — ~28%; thyroid — ~35%; renal — ~34%; colorectal — ~9%; melanoma — ~6%) with protocols starting variously between diagnosis and age 40 depending on organ. Prevention-persona RedFlag (§20, v0.2-B confirmed-carrier surveillance pathway — distinct from RF-COWDEN-FAMILY-HISTORY-SUSPICION which fires before testing).
Клінічний напрямinvestigate
Категоріяother

Логіка спрацьовування

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

Нотатки

v0.2-B confirmed-carrier surveillance pathway — Cowden / PHTS. Fires on documented germline PTEN pathogenic variant positivity in an asymptomatic individual. Engine routes to PreventionPlan recommending: (a) IND-COWDEN-CARRIER-SURVEILLANCE (standard) — annual breast mammography + MRI from age 30 (women); annual thyroid US from diagnosis; endometrial sampling / TVUS q1y from age 35-40 (women); colonoscopy from age 35 then per-finding; annual skin exam; renal US or MRI q1-2y from age 40. (b) IND-COWDEN-CARRIER-INTENSIFIED (aggressive) — standard protocol PLUS risk-reducing mastectomy / hysterectomy discussion post-childbearing. STUB pending two-Clinical-Co-Lead signoff per CHARTER §6.1 dev-mode exemption. Source-set TODO: Tan et al. Lifetime cancer risks in PHTS, Clin Cancer Res 2012 — v0.2-B authoring backlog new SRC entity. Lifetime cancer risk in confirmed PTEN carriers (Tan et al. Clin Cancer Res 2012; NCCN Genetic / Familial High-Risk Breast Ovarian): - Breast (women): ~85% lifetime; often early-onset (40s) and bilateral - Endometrial: ~28% lifetime; often early-onset (under 50) - Thyroid (predominantly follicular, also papillary and Hürthle): ~35% lifetime; multinodular goiter...

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Algorithms

Indications

Тривожна ознака