Retinoblastoma
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| ID | DIS-RETINOBLASTOMA |
|---|---|
| Tipo | Doença |
| Alegais | Retinoblastoma hereditárioRetinoblastoma pediátricoRBRetinoblastoma esporádicoRetinoblastoma trilateralРетинобластома |
| Estado | reviewed 2026-05-18 | pending_clinical_signoff |
| Doenças | Nenhuma declaração |
| Fontes | SRC-COG SRC-NCCN-PEDIATRIC-SARCOMA |
Informational support. All recommendations must be verified by a qualified oncologist. Engineering checks are not clinical validation or treatment approval.
| icd_o_3_morphology | 9510/3 |
|---|---|
| icd_o_3_topography | ["C69.2"] |
| icd_10 | C69.2 |
| who_classification | WHO Eye Tumours 5th ed (2024): Retinoblastoma |
Notas
Most common pediatric ocular malignancy. Germline RB1 testing mandatory at diagnosis — drives sibling cascade screening, lifetime second-primary surveillance (osteosarcoma, soft-tissue sarcomas, melanoma; ~50% lifetime risk of second cancer in germline carriers), and treatment choice (avoid external-beam RT in germline carriers because of post-RT sarcoma risk in field). Treatment: intra-arterial melphalan chemo (Group A-B-C eyes) is modern standard with high eye-salvage rates; enucleation for Group D-E or RT-induced cataract / glaucoma; systemic chemo (carboplatin + etoposide + vincristine) for bilateral / disseminated disease.
Usado por
Relevância terapêutica
BMA-RB1-GERMLINE-RETINOBLASTOMA- As variantes patogênicas da linha germinal RB1 causam retinoblastoma herdado (~40% do retinoblastoma c...
Doença
DIS-PINEOBLASTOMA- Pineoblastoma