Confirmed germline pathogenic / likely-pathogenic variant in NF2 (neurofibromin 2 / merli...

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

ID	`RF-NF2-SCHWANNOMATOSIS-CARRIER`
Тип	Тривожна ознака
Статус	переглянуто 2026-05-20 \| очікує клінічного підпису
Хвороби	`DIS-GLIOMA-LOW-GRADE`
Джерела	`SRC-NCCN-CNS-2025` `SRC-NCCN-GENETIC-FAMILIAL-BREAST-OVARIAN-2025`

Походження тривожної ознаки

Визначення	Confirmed germline pathogenic / likely-pathogenic variant in NF2 (neurofibromin 2 / merlin / Moesin-Ezrin-Radixin-like protein), OR a confirmed germline SMARCB1 schwannomatosis-spectrum variant (typically missense / splice / non-truncating in the carboxy- terminal domain — DISTINCT from N-terminal truncating SMARCB1 variants causing rhabdoid tumor predisposition syndrome / RTPS), OR fulfilment of the revised Manchester / Baser clinical diagnostic criteria for NF2-related schwannomatosis. NF2-related schwannomatosis (renamed from neurofibromatosis type 2 in 2022 international consensus, Plotkin et al. Genet Med 2022) is an autosomal-dominant tumor-suppressor syndrome whose hallmark is bilateral vestibular schwannoma (~95% of NF2 patients by adulthood) + cranial / spinal schwannomas + meningioma (~60% — often multiple; cumulative risk drives morbidity) + spinal ependymoma (~30% — often in...
Клінічний напрям	investigate
Категорія	other

Логіка спрацьовування

{
  "any_of": [
    {
      "finding": "germline_nf2_pathogenic_variant_confirmed",
      "value": true
    },
    {
      "finding": "nf2_clinical_diagnostic_criteria_met",
      "value": true
    },
    {
      "finding": "germline_smarcb1_schwannomatosis_variant",
      "value": true
    }
  ],
  "type": "lab_value"
}

Нотатки

Gene-specific NF2-related schwannomatosis + SMARCB1-schwannomatosis confirmed-carrier RF — CRITICAL severity. Fires on documented germline NF2 pathogenic variant, OR germline SMARCB1 schwannomatosis- spectrum variant (distinct from N-terminal truncating RTPS variants), OR fulfilment of revised Manchester / Baser clinical criteria. DISEASE-ANCHOR LIMITATION: DIS-GLIOMA-LOW-GRADE is used as the best-available approximation in v0.3 KB — the actual NF2 tumor spectrum (vestibular schwannoma + meningioma + spinal ependymoma) has no dedicated DIS-* entities yet. Flagged for v0.4 cleanup when DIS-VESTIBULAR-SCHWANNOMA / DIS-MENINGIOMA / DIS-EPENDYMOMA entities land. The indication-level rationale narrates the actual NF2 tumor spectrum + surveillance / treatment specifics — disease-anchor inaccuracy does not propagate into the clinical content. Engine routes to PreventionPlan: (a) IND-NF2-CARRIER-SURVEILLANCE (standard) — brain MRI with thin- cut internal-auditory-canal sequences q1-2y from age 10 (or baseline at diagnosis if older); whole-spine MRI q3-5y for intramedullary / extramedullary schwannomas + ependymomas; audiology + speech-discrimination annually; ophthalmology q1-2y for juven...

Де використовується

Indications

IND-NF2-CARRIER-INTENSIFIED - IND-NF2-CARRIER-INTENSIFIED
IND-NF2-CARRIER-SURVEILLANCE - IND-NF2-CARRIER-SURVEILLANCE