Cavitary retinoblastoma with MYCN amplification

Area of Science:

• Oncology
• Ophthalmology
• Genetics

Background:

• MYCN amplification is a known oncogenic driver in a subset of retinoblastoma tumors, often associated with RB1 gene alterations.
• Retinoblastoma tumors with MYCN amplification typically present with aggressive features and a poor prognosis, frequently necessitating enucleation.
• Cavitary retinoblastomas are generally well-differentiated and associated with a favorable prognosis.

Observation:

• A 3-month-old girl presented with unilateral cavitary retinoblastoma.
• The tumor initially responded to intra-arterial chemotherapy but recurred.
• Post-enucleation, the tumor showed MYCN amplification but lacked RB1 variants.

Findings:

• This is the first reported case of MYCN-amplified retinoblastoma presenting as a cavitary tumor.
• The presence of MYCN amplification in a cavitary subtype challenges typical prognostic indicators.
• The absence of RB1 variants in this MYCN-amplified tumor suggests alternative oncogenic pathways.

Implications:

• This case expands the understanding of retinoblastoma heterogeneity and oncogenesis.
• It underscores the need for comprehensive genetic profiling in retinoblastoma, regardless of tumor morphology.
• Further research is warranted to explore the clinical behavior and therapeutic strategies for MYCN-amplified cavitary retinoblastoma.