Retinoblastoma
Deterministic view of the source YAML entity. Clinical authority remains with the cited source IDs and reviewer sign-off state.
| ID | DIS-RETINOBLASTOMA |
|---|---|
| Type | Disease |
| Aliases | Hereditary retinoblastomaPediatric retinoblastomaRBSporadic retinoblastomaTrilateral retinoblastomaРетинобластома |
| Status | reviewed 2026-05-18 | pending_clinical_signoff |
| Diseases | None declared |
| Sources | 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 |
Notes
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.
Used By
Actionability
BMA-RB1-GERMLINE-RETINOBLASTOMA- RB1 germline pathogenic variants cause heritable retinoblastoma (~40% of retinoblastoma c...
Disease
DIS-PINEOBLASTOMA- Pineoblastoma