Bilateral Retinoblastoma with Germline RB1 Mutation or Family History — What to Do When Standard Chemotherapy Did Not Achieve Complete Tumor Regression
This protocol addresses patients with bilateral retinoblastoma, a confirmed germline RB1 mutation, or a family history of retinoblastoma, who do not have high-risk features (no extraocular extension, choroidal invasion, or optic nerve involvement), but whose tumors failed to reach the endpoint of complete regression on first-line systemic treatment.
Previous Treatment — Why This Protocol Is Needed
First-line management in this population consisted of standard-dose intravenous chemotherapy (IVC) — most commonly a three-drug regimen including vincristine, etoposide, and carboplatin — given over 6 to 9 consecutive monthly cycles and combined with focal consolidation therapy. The required endpoint was complete regression of the tumor, with flat scars and fully regressed tumors. When that goal is not reached, escalation to this next step is indicated.
Next-Line Approach (Partial Overview)
Management at this line centres on globe salvage strategies, with the specific intervention selected according to the nature and location of residual or recurrent disease — in particular the type and distribution of any vitreous or subretinal seeds. Options involve chemotherapy delivered by specialised locoregional routes as well as focal ablative techniques. The complete decision algorithm, including which approach applies to each presentation, is available in the full structured protocol.
Treatment Goal
Control and resolution of vitreous and subretinal seeds, with durable tumor regression.
References
DOI: 10.4103/ijo.IJO_721_20
- Current indications for IVC include patients with bilateral disease, confirmed germline mutation, family history of retinoblastoma, or cases with suspected optic nerve or choroidal invasion.
- Current indications for IvitC include the presence of refractory or recurrent vitreous seeds following other treatments.
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