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Family pedigree suggestive of Cowden syndrome / PTEN hamartoma tumor syndrome (PHTS): any...

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IDRF-COWDEN-FAMILY-HISTORY-SUSPICION
TypeSignal d’alerte
Étatreviewed 2026-05-18 | pending_clinical_signoff
MaladiesDIS-BREAST DIS-CRC DIS-ENDOMETRIAL DIS-RCC DIS-THYROID-PAPILLARY
SourcesSRC-NCCN-BREAST-2025 SRC-NCCN-GENETIC-FAMILIAL-BREAST-OVARIAN-2025

Origine du drapeau rouge

DéfinitionFamily pedigree suggestive of Cowden syndrome / PTEN hamartoma tumor syndrome (PHTS): any of (a) a family member with a known pathogenic PTEN variant; (b) Cowden clinical diagnostic criteria met in the proband or in a family member per revised Cleveland Clinic / NCCN framework — macrocephaly (≥97th percentile, occipitofrontal circumference ≥58 cm in adult women / ≥60 cm in adult men) plus characteristic mucocutaneous findings (multiple trichilemmomas, acral keratoses, papillomatous papules) or characteristic GI hamartomatous polyps, or multi-organ involvement spanning breast (early-onset / bilateral), endometrial (especially under 50), follicular thyroid pathology, and characteristic CNS lesions; (c) a proband or family member with Lhermitte-Duclos disease (adult- onset dysplastic cerebellar gangliocytoma) — pathognomonic for Cowden and a stand-alone diagnostic criterion. No current per...
Direction cliniqueenquêter
Catégorieautres

Logique de déclenchement

{
  "any_of": [
    {
      "finding": "family_pten_known_pathogenic_variant",
      "value": true
    },
    {
      "finding": "family_cowden_clinical_diagnostic_criteria_met",
      "value": true
    },
    {
      "finding": "family_proband_lhermitte_duclos_dysplastic_gangliocytoma",
      "value": true
    }
  ],
  "type": "lab_value"
}

Notes

v0.2-B hereditary pilot — Cowden syndrome / PTEN hamartoma tumor syndrome. Fires on pedigree-based suspicion of Cowden in an asymptomatic individual (no current cancer diagnosis). Engine routes to PreventionPlan recommending: (a) genetic counseling + germline PTEN panel testing via IND-COWDEN-SUSPICION-PREVENTION-GENETIC-COUNSELING (standard) (b) empirical multi-organ Cowden-style surveillance for patients declining testing via IND-COWDEN-SUSPICION-PREVENTION- ENHANCED-SURVEILLANCE (alternative). Triggers correspond to established Cowden suspicion criteria. The Cleveland Clinic / NCCN scoring system is the most-cited clinical framework: a Cleveland Clinic Cowden score that incorporates pathognomonic / major / minor criteria with weighted scoring is the practical tool used to recommend germline PTEN testing. Lhermitte- Duclos disease — adult-onset dysplastic gangliocytoma — is pathognomonic and stand-alone diagnostic. STUB pending two-Clinical-Co-Lead signoff per CHARTER §6.1 dev-mode exemption. Source-set TODO: NCCN Genetic/Familial High-Risk: Breast, Ovarian, Pancreatic (covers Cowden surveillance) is currently cited via SRC-NCCN-GENETIC-FAMILIAL-BREAST-OVARIAN-2025; dedicated PT...

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Indication

Signal d’alerte