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Variante pathogène/pathogène probable confirmée chez DICER1 (RNase III endonucléa...

Vue déterministe de l'entité source de la LJAM. L'autorité clinique demeure avec les ID de la source cités et l'état d'approbation de l ́examinateur.

IDRF-DICER1-CONFIRMED-CARRIER
TypeSignal d’alerte
Étatreviewed 2026-05-19 | pending_clinical_signoff
MaladiesDIS-OVARIAN DIS-SOFT-TISSUE-SARCOMA DIS-WILMS
SourcesSRC-NCCN-GENETIC-FAMILIAL-BREAST-OVARIAN-2025 SRC-NCCN-OVARIAN-2025 SRC-SCHULTZ-DICER1-2018 SRC-STEWART-DICER1-REVIEW-2019

Origine du drapeau rouge

DéfinitionConfirmed 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...
Direction cliniqueenquêter
Catégorieautres

Logique de déclenchement

{
  "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"
}

Notes

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.

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