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Confirmado germline patogênica / provável patogénica variante no RET proto-oncogene — MEN...

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IDRF-MEN2-CONFIRMED-CARRIER
TipoSinal de alerta
Estadoreviewed 2026-05-18 | pending_clinical_signoff
DoençasDIS-MTC DIS-PHEOCHROMOCYTOMA
FontesSRC-ATA-THYROID-2015 SRC-NCCN-BCELL-2025 SRC-NCCN-THYROID-2025

Origem da bandeira vermelha

DefiniçãoConfirmed germline pathogenic / likely-pathogenic variant in the RET proto-oncogene — MEN2A or MEN2B by mutation class. Patient has had germline RET testing returned positive; the pedigree-suspicion question is settled. No current personal cancer diagnosis in the carrier being assessed (current cancer diagnosis routes to treatment-track plan with RET-class status recorded). Mandates prophylactic thyroidectomy timed by RET class (HST e.g. M918T → infancy; high-risk e.g. C634 → age ≤5; moderate-risk → age 5-10) plus lifelong pheochromocytoma + parathyroid surveillance. Prevention-persona RedFlag (§20, v0.2-B confirmed-carrier surveillance pathway — distinct from RF-MEN2-FAMILY-HISTORY-SUSPICION which fires before testing).
Direcção clínicainvestigar
CategoriaOutros

Lógica de Desencadeamento

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

Notas

v0.2-B confirmed-carrier surveillance pathway — MEN2. Fires on documented germline RET pathogenic variant positivity in an asymptomatic individual. Engine routes to PreventionPlan recommending: (a) IND-MEN2-CARRIER-SURVEILLANCE (standard) — ATA-class-driven prophylactic thyroidectomy timing + calcitonin q6mo + plasma / urine metanephrines q1y from age 8-16 (RET-class-dependent) + PTH/Ca q1y in MEN2A class. (b) IND-MEN2-CARRIER-INTENSIFIED (aggressive) — earlier thyroidectomy + bilateral adrenalectomy discussion if bilateral pheochromocytoma emerges + cortical-sparing surgery option to preserve glucocorticoid function. STUB pending two-Clinical-Co-Lead signoff per CHARTER §6.1 dev-mode exemption. Lifetime tumor risk in confirmed RET carriers (Wells et al. ATA 2015): - MTC: near-100% penetrance; age of onset by RET class (MEN2B M918T infancy-toddlerhood; classic MEN2A C634 childhood-adolescence; moderate-risk RET adulthood) - Pheochromocytoma: ~50% in MEN2A and MEN2B; preferentially bilateral / adrenal medullary; emerges after MTC (age 30s-40s) - Primary hyperparathyroidism: ~20-30% in MEN2A only (absent in MEN2B); multi-glandular hyperplasia - Mucosal neuromas + marfanoid + corneal...

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