RB1 germline pathogenic variants cause heritable retinoblastoma (~40% of retinoblastoma c...
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| ID | BMA-RB1-GERMLINE-RETINOBLASTOMA |
|---|---|
| Type | Pertinence thérapeutique |
| État | reviewed 2026-05-18 | pending_clinical_signoff | actionability review required |
| Maladies | DIS-RETINOBLASTOMA |
| Sources | SRC-NCCN-PEDIATRIC-SARCOMA |
Faits relatifs à l ' action en justice
| Biomarqueur | BIO-RB1-GERMLINE |
|---|---|
| Variante | RB1 germline pathogenic (heritable retinoblastoma) |
| Maladie | DIS-RETINOBLASTOMA |
| Niveau ESCAT | IIA |
| Combinaisons recommandées | pediatric ocular oncology referral immediately on positive RB1 result or family history, EUA pediatric ophthalmology q2-4 weeks newborn-12 mo, lengthening to q3mo / q6mo / annual, intra-arterial chemotherapy (melphalan ± topotecan ± carboplatin) — focal vision-sparing therapy where appropriate, systemic chemotherapy (vincristine + carboplatin + etoposide) for advanced disease per COG, avoid external-beam radiation when feasible (secondary-cancer risk in RB1 carriers), lifelong secondary-cancer surveillance (annual dermatology, low-threshold imaging for bone pain in adolescence) |
| Contre-indiqué en monothérapie | external-beam radiation therapy — relative contraindication in RB1 germline carriers due to secondary-cancer induction; prefer brachytherapy / intra-arterial chemotherapy / enucleation |
| Résumé des faits | RB1 germline pathogenic variants cause heritable retinoblastoma (~40% of retinoblastoma cases) — bilateral / multifocal disease in 80% of carriers, median age at diagnosis ~12 months. Carriers face lifetime ~50% risk of secondary primary cancers (osteosarcoma, soft-tissue sarcoma, melanoma, lung, bladder); cumulative risk markedly elevated after external-beam radiation therapy (EBRT) — modern protocols avoid EBRT to mitigate. Confirmed-carrier surveillance protocol (per COG / Children's Oncology Group + International Retinoblastoma Consortium): pediatric ophthalmology with EUA (examination under anesthesia) starting in newborn period — every 2-4 weeks until age 1, then progressive lengthening to monthly → q3mo → q6mo through age 7, annual through adolescence. Cascade testing to all first-degree relatives mandatory. Lifelong secondary-cancer surveillance: annual skin exam, attentiveness to bone pain (osteosarcoma in adolescence/young adulthood), avoidance of unnecessary diagnostic ionizing radiation. ESCAT IIA. |
Notes
STUB — Wave A+B germline expansion. Linked Indication: none (no retinoblastoma-specific surveillance Indication exists yet). Two-Clinical- Co-Lead signoff queued. Pediatric ocular oncology is highly subspecialized; ophthalmology-genetics-oncology MDT is required at a designated center. Cascade testing of siblings before birth (cord-blood / amniotic-fluid) enables immediate post-natal screening protocol activation.
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