Patient has a confirmed germline pathogenic variant in SMARCB1 (chromosome 22q11.2) or SM...

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

ID	`RF-RHABDOID-PREDISPOSITION-CONFIRMED-CARRIER`
Тип	Тривожна ознака
Статус	переглянуто 2026-05-19 \| очікує клінічного підпису
Хвороби	`DIS-GLIOMA-LOW-GRADE`
Джерела	`SRC-FOULKES-RHABDOID-2017` `SRC-NCCN-CNS-2025` `SRC-NCCN-GENETIC-FAMILIAL-BREAST-OVARIAN-2025`

Походження тривожної ознаки

Визначення	Patient has a confirmed germline pathogenic variant in SMARCB1 (chromosome 22q11.2) or SMARCA4 (chromosome 19p13.2), defining rhabdoid tumor predisposition syndrome type 1 (RTPS1) or type 2 (RTPS2) respectively. Autosomal-dominant inheritance with near-100% penetrance for early-childhood disease in classic SMARCB1 cases. Cancer spectrum: atypical teratoid/rhabdoid tumor (ATRT) of the CNS with infancy peak, extracranial malignant rhabdoid tumor (MRT) of kidney / liver / soft tissue, small cell carcinoma of the ovary hypercalcemic type (SCCOHT — SMARCA4 specifically), and schwannomatosis in adolescent / adult survivors. The risk window is extremely narrow (peak ATRT incidence in the first 2 years of life) so high-cadence early surveillance is non-negotiable. Prevention-persona confirmed-carrier RedFlag (§20).
Клінічний напрям	investigate
Категорія	other

Логіка спрацьовування

{
  "any_of": [
    {
      "finding": "germline_smarcb1_pathogenic_confirmed",
      "value": true
    },
    {
      "finding": "germline_smarca4_pathogenic_confirmed",
      "value": true
    }
  ],
  "type": "lab_value"
}

Нотатки

Prevention-persona Rhabdoid Tumor Predisposition Syndrome confirmed-carrier RedFlag (pediatric cancer predisposition Wave M). Engine routes to PreventionPlan for ATRT / MRT / (SMARCA4: SCCOHT) surveillance: brain MRI q3mo from infancy through age 4 then q6mo through age 5, whole-body MRI q3-6mo through age 5. SMARCA4 carriers additionally surveilled for SCCOHT (transvaginal US + pelvic exam starting menarche). Disease anchor DIS-GLIOMA-LOW-GRADE used as closest CNS anchor available in KB — ATRT is a distinct embryonal CNS entity, noted in rationale of paired Indications. STUB pending two-Clinical-Co-Lead signoff per CHARTER §6.1 dev-mode.

Де використовується

Indications

IND-RHABDOID-PREDISPOSITION-CARRIER-INTENSIFIED - IND-RHABDOID-PREDISPOSITION-CARRIER-INTENSIFIED
IND-RHABDOID-PREDISPOSITION-CARRIER-SURVEILLANCE - IND-RHABDOID-PREDISPOSITION-CARRIER-SURVEILLANCE