Confirmed germline pathogenic / likely-pathogenic variant in DICER1 (RNase III endonuclea...

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

ID	`RF-DICER1-CONFIRMED-CARRIER`
Тип	Тривожна ознака
Статус	переглянуто 2026-05-19 \| очікує клінічного підпису
Хвороби	`DIS-OVARIAN` `DIS-SOFT-TISSUE-SARCOMA` `DIS-WILMS`
Джерела	`SRC-NCCN-GENETIC-FAMILIAL-BREAST-OVARIAN-2025` `SRC-NCCN-OVARIAN-2025` `SRC-SCHULTZ-DICER1-2018` `SRC-STEWART-DICER1-REVIEW-2019`

Походження тривожної ознаки

Визначення	Confirmed germline pathogenic / likely-pathogenic variant in DICER1 (RNase III endonuclease essential for miRNA biogenesis). Autosomal- dominant; moderate-to-high penetrance for a characteristic tumor spectrum that combines rare childhood + adolescent + young-adult cancers. Cancer spectrum: pleuropulmonary blastoma (PPB, ~5-10% lifetime risk, most distinctive — childhood-onset pulmonary cystic / solid lesion progression Type I → II → III), Sertoli-Leydig cell tumor of the ovary (~6-15% lifetime in female carriers, adolescent / young adult), multinodular goiter (~75% lifetime, often presenting age 5-20), cystic nephroma (~5-10% childhood), embryonal rhabdomyo- sarcoma of cervix / urinary tract, pinealoblastoma + pituitary blastoma, nasal chondromesenchymal hamartoma. ~1 in 10,000 population frequency; recognition often follows family clustering of multiple tumor types. Patient has confir...
Клінічний напрям	investigate
Категорія	other

Логіка спрацьовування

{
  "any_of": [
    {
      "finding": "germline_dicer1_pathogenic_variant_confirmed",
      "value": true
    },
    {
      "finding": "germline_dicer1_likely_pathogenic_variant",
      "value": true
    },
    {
      "finding": "dicer1_syndrome_clinical_criteria_met",
      "value": true
    }
  ],
  "type": "lab_value"
}

Нотатки

Prevention-persona RedFlag for DICER1 confirmed-carrier cohort. Pediatric surveillance per International PPB Registry / IDSDB recommendations: - Chest CT q4-6 mo from birth to age 3, q6-12 mo to age 8. - Abdominal US q3-6 mo from birth to age 8. - Thyroid US baseline by age 8 + q3-5 y. - Pelvic US in female carriers from menarche. - Brain MRI baseline + symptom-driven. Surgery curative for PPB Type I when detected early; advanced PPB Type III (solid component) very aggressive. Risk-reducing oophorectomy not endorsed for Sertoli-Leydig prevention. STUB pending two-Co-Lead signoff per CHARTER §6.1 dev-mode.

Де використовується

Indications

IND-DICER1-CARRIER-PREVENTION-OBSERVATION - IND-DICER1-CARRIER-PREVENTION-OBSERVATION
IND-DICER1-CARRIER-PREVENTION-SURVEILLANCE - IND-DICER1-CARRIER-PREVENTION-SURVEILLANCE

Sources

SRC-STEWART-DICER1-REVIEW-2019 - Neoplasm Risk Among Individuals With a Pathogenic Germline Variant in DICER1