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Variante pathogène/pathogène probable confirmée dans le CDKN2A (p16/INK4a) — gène-sp...

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IDRF-CDKN2A-SPECIFIC-PDAC-CARRIER
TypeSignal d’alerte
Étatreviewed 2026-05-20 | pending_clinical_signoff
MaladiesDIS-MELANOMA DIS-PDAC
SourcesSRC-CANTO-CAPS-2018 SRC-CAPS-CONSORTIUM-PANCREATIC-2020 SRC-NCCN-GENETIC-FAMILIAL-BREAST-OVARIAN-2025

Origine du drapeau rouge

DéfinitionConfirmed germline pathogenic / likely-pathogenic variant in CDKN2A (p16/INK4a) — gene-specific variant of the broader Familial Atypical Multiple Mole Melanoma (FAMMM) phenotype. Distinguishing clinical feature: pancreatic ductal adenocarcinoma (PDAC) signal — lifetime PDAC risk ~17% in p16-Leiden cohort (Netherlands founder variant), up to ~58% in some CDKN2A-3′-UTR variant families. Melanoma signal also present (~70-80% lifetime), often multiple primary melanomas + atypical mole syndrome. Some families show pleomorphic glial brain tumors. Distinct from existing RF-FAMMM-CONFIRMED-CARRIER which covers broader FAMMM phenotype without specific PDAC routing — this RF anchors the gene-specific multi-organ surveillance pathway including pancreatic surveillance per CAPS Consortium criteria. Patient has confirmed positive germline test; no current personal cancer diagnosis in the carrier bein...
Direction cliniqueenquêter
Catégorieautres

Logique de déclenchement

{
  "any_of": [
    {
      "finding": "cdkn2a_p16_leiden_confirmed",
      "value": true
    },
    {
      "finding": "cdkn2a_with_pdac_family_history",
      "value": true
    }
  ],
  "type": "lab_value"
}

Notes

Prevention-persona RedFlag for CDKN2A-specific carriers (gene-specific RF vs the broader FAMMM RF). Pancreatic surveillance per CAPS Consortium 2018/2020: alternating EUS + abdominal MRI/MRCP every 12 months from age 40 OR 10 years before earliest PDAC in family (whichever earlier). Melanoma surveillance: annual full-body skin examination + dermoscopy from age 10-12; mapping photography for multiple atypical moles. Patient should know aggressive sun protection + lifelong CDKN2A-specific cohort. STUB pending two-Co- Lead signoff per CHARTER §6.1 dev-mode.

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