Rb-NET Challenges 2024

Rb-NET Challenges 2024 webinar summary

November 22^nd 2024 – 12:00 GMT

The rapid-fire case presentations during the Rb-NET Challenges 2024 Webinar included a diverse range of retinoblastoma cases, showcasing complex management decisions and treatments. Here’s a summary of the cases presented:

Case by Duangnate Rojanaporn (Thailand)

Presentation: Floaters in a mom of a child with retinoblastoma. On examination – amelanotic retinal tumor.

Key Decision: Diagnostic dilemma, FNAB was not performed because it was suspicious for retinoblastoma. Chemotherapy (IAC and IViT topotecan) was the correct approach.

Outcome: Tumor regression and eye conservation.

Case by Franco Benvenuto (Argentina)

Presentation: Group D retinoblastoma in one eye and Group E which was enucleated in the other.

Key Decision: Intra-arterial chemotherapy followed by intra-vitreous topotecan.

Outcome: Improvement in retinal seeds and fluid after multiple cycles.

Case by Nathalie Cassoux (France)

Presentation: Unilateral Group E.

Key Decision: Primary enucleation.

Outcome: Pathology confirmed massive choroidal and optic nerve invasion; adjuvant chemotherapy initiated but brain became involved.

Case by Esther Majaliwa (Tanzania)

Presentation: Bilateral retinoblastoma. One eye enucleated. Remaining eye – multiple relapses over years with poor response to systemic chemotherapy.

Key Decision: Referral abroad for intra-arterial chemotherapy.

Outcome: Only eye saved.

Case by Vikas Khetan (USA)

Presentation: Advanced retinoblastoma with optic nerve involvement.

Key Decision: Persistent optic nerve thickening despite repeated systemic chemotherapy. Orbital surgery to expose involved optic nerve followed by enucleation, radiotherapy and adjuvant chemotherapy.

Outcome: Child survived (long follow-up).

Eva Biewald, Sophia Göricke, Saskia Ting, and Petra Ketteler (Essen, Germany)

• Multidiscipline team (MDT) meeting: Rare MYCN-amplified retinoblastoma subtype in a 3.5-month-old infant.
• Management: Immediate enucleation confirmed the subtype through histopathology and genetic testing. Discussions centered on staging, intervals for surveillance, and adjuvant therapy considerations.

Keynote Presentation – Brenda Gallie (Canada):

• Discussed the discovery of MYCN-amplified RB1-proficient retinoblastoma<, a rare subtype without RB1mutations.
• Highlighted the importance of genetic profiling, with insights into historical research collaborations and clinical applications.
• Noted the significance of identifying this variant for personalized patient counselling and management.

Themes and Takeaways

• Genetic Profiling: Integral for diagnosis and guiding therapy in atypical retinoblastoma cases.
• International Collaboration: Critical for addressing complex cases, especially in resource-limited regions.
• Advances in Treatment: Emphasis on tailored approaches such as IAC, intravitreal injections, and adjuvant therapies.
• Cases reinforced the value of international knowledge sharing in addressing complex retinoblastoma challenges.

This session highlighted both the global challenges and breakthroughs in retinoblastoma management, advancing the understanding and care for patients.